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Sample records for ependimoma infantil tratamiento

  1. Ependimoma myxopapilar sacro gigante con osteolisis

    PubMed Central

    Ajler, Pablo; Landriel, Federico; Goldschmidt, Ezequiel; Campero, Álvaro; Yampolsky, Claudio

    2014-01-01

    Objetivo: la presentación de un caso de una paciente con un ependimoma sacro con extensa infiltración y destrucción ósea local. Descripción del caso: una mujer de 53 años acudió a la consulta por dolor lumbosacro y alteraciones sensitivas perineales y esfinterianas. La imágenes por Resonancia Magnética (IRM) y la Tomografía Axial Computada (TAC) mostraron una lesión expansiva gigante a nivel S2-S4 con extensa osteólisis e invasión de tejidos adyacentes. Se realizó una exéresis tumoral completa con mejoría del estatus funcional. La anatomía patológica informó ependimoma mixopapilar. Discusión: la extensión de la resección quirúrgica es el mejor predictor de buen pronóstico. El tratamiento radiante se reserva como opción adyuvante para las resecciones incompletas y recidiva tumoral. La quimioterapia sólo debería utilizarse en casos en que la cirugía y la radioterapia estén contraindicadas. Conclusión: Los ependimomas mixopapilares sacros con destrucción ósea y presentación intra y extradural son muy infrecuentes y deben ser tenidos en cuenta entre los diagnósticos diferenciales preoperatorios. Su resección total, siempre que sea posible, es la mejor alternativa terapéutica. PMID:25165615

  2. Infantile haemangioma.

    PubMed

    Léauté-Labrèze, Christine; Harper, John I; Hoeger, Peter H

    2017-07-01

    With a prevalence of 4·5%, infantile haemangiomas are the most common benign tumours of infancy, arising in the first few weeks of life and exhibiting a characteristic sequence of growth and spontaneous involution. Most infantile haemangiomas do not require therapy. However, to identify at-risk haemangiomas, close follow-up is crucial in the first weeks of life; 80% of all haemangiomas reach their final size by 3 months of age. The main indications for treatment are life-threatening infantile haemangioma (causing heart failure or respiratory distress), tumours posing functional risks (eg, visual obstruction, amblyopia, or feeding difficulties), ulceration, and severe anatomic distortion, especially on the face. Oral propranolol is now the first-line treatment, which should be administered as early as possible to avoid potential complications. Haemangioma shrinkage is rapidly observed with oral propranolol, but a minimum of 6 months of therapy is recommended. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Infantile colic.

    PubMed

    Lucassen, Peter

    2007-07-01

    Infantile colic causes one in six families (17%) with children to consult a health professional. One systematic review of 15 community-based studies found a wide variation in prevalence, which depended on study design and method of recording. We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for infantile colic? We searched: Medline, Embase, The Cochrane Library and other important databases up to January 2007 (BMJ Clinical evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 23 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: advice to increase carrying, advice to reduce stimulation, casein hydrolysate milk, cranial osteopathy, crib vibrator device, focused counselling, gripe water, infant massage, low-lactose milk, simethicone, soya-based infant feeds, spinal manipulation, whey hydrolysate milk.

  4. Infantile spasms.

    PubMed

    Kossoff, Eric H

    2010-03-01

    Infantile spasms (West syndrome) is an epilepsy condition affecting 1 in 2000 infants. Perhaps no more worrisome neurologic disorder exists because of its frequent association with delayed development and cognition at such a young age. Despite its existence in the literature since 1841, proven therapies are limited because of efficacy, tolerability, at times even availability. In this review, the clinical features, electroencephalogram (EEG) findings (hypsarrhythmia), prognostic factors, and myriad of treatment options for this condition will be discussed. Guidelines, surveys, and practice parameters have judged adrenocorticotropin hormone and vigabatrin to be the most proven treatments, with the latter indicated for tuberous sclerosis. However, potentially helpful therapies with fewer side effects have recently emerged including high-dose oral prednisolone, ketogenic diet, and topiramate. Additionally, advances in the past several years include the creation of viable animal models for testing new treatments. At no other time since its first description in 1841 has the field of infantile spasms research been so rapidly changing. For the thousands of infants faced with this potentially devastating disorder, there is no time like the present.

  5. Infantile reflexes (image)

    MedlinePlus

    Infantile reflexes are tested and observed by medical professionals to evaluate neurological function and development. Absent or ... reflex is normally lost, or redevelopment of an infantile reflex in an older child or adult may ...

  6. Infantilizing Autism.

    PubMed Central

    Stevenson, Jennifer L.; Harp, Bev; Gernsbacher, Morton Ann

    2014-01-01

    When members of the public envision the disability of autism, they most likely envision a child, rather than an adult. In this empirically based essay, three authors, one of whom is an autistic self-advocate, analyzed the role played by parents, charitable organizations, the popular media, and the news industry in infantilizing autism. Parents portrayed the face of autism to be that of a child 95% of the time on the homepages of regional and local support organizations. Nine of the top 12 autism charitable organizations restricted descriptions of autism to child-referential discourse. Characters depicted as autistic were children in 90% of fictional books and 68% of narrative films and television programs. The news industry featured autistic children four times as often as they featured autistic adults in contemporary news articles. The cyclical interaction between parent-driven autism societies, autism fundraising charities, popular media, and contemporary news silences adult self-advocates by denying their very existence. Society's overwhelming proclivity for depicting autism as a disability of childhood poses a formidable barrier to the dignity and well-being of autistic people of all ages. PMID:25520546

  7. Propranolol for infantile hemangiomas.

    PubMed

    Bagazgoitia, Lorea; Torrelo, Antonio; Gutiérrez, Juan Carlos López; Hernández-Martín, Angela; Luna, Paula; Gutiérrez, Marta; Baño, Antonio; Tamariz, Amalia; Larralde, Margarita; Alvarez, Roser; Pardo, Nuria; Baselga, Eulalia

    2011-01-01

    Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy-one infants with infantile hemangiomas were treated with oral propranolol, 1 mg/kg/12 hours, for at least 12 weeks. A photograph based severity scoring assessment was performed by five observers to evaluate efficacy, utilizing a scoring system of 10 as the original infantile hemangioma before treatment and 0 as completely normal skin. The mean of the five independent measurements was used in the analysis. Propranolol was a rapid and effective treatment for infantile hemangiomas at 4 weeks (p < 0.001), at 8 weeks (p < 0.001 compared to the 4 wks value), at 12 weeks (p < 0.05 compared to the 8 wks value), and thereafter up to 32 weeks (p < 0.01 compared to the 16 wks value). The response of infantile hemangiomas to propranolol was similar regardless of sex, age at onset of treatment, type of involvement (segmental and nonsegmental), facial segments affected, special locations (eyelid, nasal tip, and parotid region), ulceration, and depth of infantile hemangiomas. Very few side effects were reported; mainly agitated sleep in 10 of 71 patients. In the series of patients in this study, oral propranolol 2 mg/kg/day was a well-tolerated and effective treatment for infantile hemangiomas. Prospective studies are needed to establish the exact role of propranolol in the treatment of infantile hemangiomas. © 2011 Wiley Periodicals, Inc.

  8. Histidinemia and Infantile Autism

    ERIC Educational Resources Information Center

    Kotsopoulos, S.; Kutty, K. M.

    1979-01-01

    The article presents a case history of a boy with both infantile autism and histidenia (an inborn error of amino acid metabolism), and discusses the possible relationship between the two conditions. (DLS)

  9. Acute infantile motor unit disorder. Infantile botulism?

    PubMed

    Clay, S A; Ramseyer, J C; Fishman, L S; Sedgwick, R P

    1977-04-01

    Eight infants with an acute reversible motor unit disorder are described, including two infants from whom Clostridum botulinum type A was isolated from stool specimens. The clinical spectrum includes constipation, cranial nerve deficits, pupillary involvement, and generalized hypotonic weakness. There were no deaths, and all infants have had complete clinical recovery. A characteristic electromyographic (EMG) pattern was present in part until clinical recovery. This distinctive pattern consisted of brief, small, abundant for power exerted motor unit potentials. This EMG pattern in the context of the clinical syndrome may well be diagnostic for acute infantile motor unit disorder.

  10. Hyperlexia in Infantile Autism.

    ERIC Educational Resources Information Center

    Whitehouse, Dennis; Harris, James C.

    1984-01-01

    Followup of 20 boys (from 7-17 years old) diagnosed with infantile autism revealed Ss' compulsion to decode written materials without comprehension of its meaning. Major differences in intelligence and verbal and nonverbal abilities were noted. It is suggested that the presence of hyperlexia may identify a subgroup of autistic children. (Author/CL)

  11. Social Class and Infantile Autism.

    ERIC Educational Resources Information Center

    Gillberg, Christopher; Schaumann, Helen

    1982-01-01

    Twenty infantile autistic children (mean age 10.6 years) were compared with 50 seven-year-old Swedish children with regard to social class. The distributions of social class were almost identical in the infantile autism group and in the random group. (Author/SW)

  12. Infantile perianal protrusion.

    PubMed

    Ferrari, Bruno; Taliercio, Vanina; Luna, Paula; Eugenia, Maria; Larralde, Margarita

    2014-12-14

    Infantile perianal protrusion is characterized by a skin fold located in the perianal area. It is a relatively recent reported condition and affects both infants and prepubertal children with a clear female predominance. Three types are recognized: constitutional/congenital, acquired, and associated with lichen sclerosus et atrophicus. We report eleven new cases, three of whom have the defect in locations that have been reported only once before. We would like to increase the awareness of this condition to avoid erroneous diagnostic and therapeutic procedures.

  13. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma.

  14. Genetics Home Reference: infantile systemic hyalinosis

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions infantile systemic hyalinosis infantile systemic ...

  15. Infantile osteopetrosis with superimposed rickets.

    PubMed

    Gonen, Korcan Aysun; Yazici, Zeynep; Gokalp, Gokhan; Ucar, Ayse Kalyoncu

    2013-01-01

    Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

  16. [Central infantile hypotonia syndrome].

    PubMed

    Lesný, I; Prosková, M; Lehovský, M

    1989-04-14

    Czechoslovak child neurologists devoted much attention to central infantile hypotonic syndrome (CIHS) in a series of investigations conducted in 1959-1986. They found that it is a developmental syndrome caused by affection of the immature brain, and later, at the age of 3-5 years, it disappears or transforms into other syndromes: most frequently cerebellar syndromes and developmental disintegrations (disintegration of the development of the CNS and medium-grade mental retardation). These groups overlap only little. From the hypotonic syndrome also the spastic syndrome or minor cerebral syndromes may develop. CIHS has, similarly as some other manifestations of CNS affections, multiple causes. One of them is most probably a defect of or lack of development of facilitating pathways of gamma fibres from the cerebellum or possibly from the reticular formation of the brain stem to the spinal cord; another probable cause is longer immaturity of the afferent system (which leads finally to developmental disintegration). It may be assumed that the facilitating systems of pathways develop later and are thus more immature and therefore more vulnerable. According to the latest information it seems that in CIHS also the muscular component participates as prenatal cerebral affections can cause myopathy with hypotonia.

  17. Infantile spasms: treatment challenges.

    PubMed

    Watemberg, Nathan

    2012-08-01

    Infantile spasms (IS) represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram (elimination of hypsarrhythmia) are mandatory to prevent cognitive deterioration in previously healthy infants, or to preserve neurocognitive function among those neurologically affected prior to onset of IS. Traditionally, this epilepsy syndrome has been considered a "catastrophic" epilepsy, not only for its frequent refractoriness, but mostly due to its effect on cognition. Nevertheless, a change of attitude among pediatric epileptologists is probably warranted, as enough evidence and clinical experience demonstrate that early, aggressive therapy, especially with adrenocorticotropic hormone (ACTH), may not only lead to cessation of spasms, but often leads to the cure of infants with idiopathic/cryptogenic IS. Some ACTH protocols such as that prescribed in Israel (tetracosactide ACTH) appear to be highly efficacious in guarantying a good or even excellent prognosis in idiopathic IS. Moreover, oral prednisolone is a promising and much less expensive alternative to IM ACTH. Vigabatrin does have a role as a first-line agent, especially for tuberous sclerosis patients, but evidence supports hormonal therapy as the initial treatment. The role of pyridoxine and the ketogenic diet still needs to be established; given the efficacy of a much shorter tetracosactide ACTH protocol, there may be no need for the long-term diet, despite its efficacy. Finally, a very promising drug has been developed (CP-115) that may altogether replace the current therapeutic regimens in the near future.

  18. Infantile amnesia: a neurogenic hypothesis.

    PubMed

    Josselyn, Sheena A; Frankland, Paul W

    2012-08-16

    In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits.

  19. Infantile Hemangioma: A Brief Review

    PubMed Central

    BOTA, MADALINA; POPA, GHEORGHE; BLAG, CRISTINA; TATARU, ALEXANDRU

    2015-01-01

    Infantile hemangiomas as frequent infancy tumors have been a controversial issue of medical scientists worldwide. Their clinical aspects are various and their physiopathology is yet to be fully understood. Numerous publications outline the characteristics, causes, evolution possibilities and therapeutic approaches. Deciding whether to treat or not is the main question of this kind of pathology. Hemangiomas that have complications or can cause irreversible damage need therapy. This is a brief review of up-to-date information regarding the presentation of infantile hemangiomas and target-therapies. PMID:26528043

  20. Perinatal risk factors and infantile autism.

    PubMed

    Maimburg, R D; Vaeth, M

    2006-10-01

    Suboptimal conditions during pregnancy and birth have been suggested as a cause of infantile autism. We have studied the association between obstetric factors and infantile autism. A population-based, matched case-control study of infantile autism. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals (CI). The risk of infantile autism was increased for mothers aged >35 years, with foreign citizenship, and mothers who used medicine during pregnancy. A higher risk of infantile autism was seen among children with low birth weight and with congenital malformations. Birth interventions, pathological cardiotocography, green amnion fluid and acidosis during delivery were not associated with increased risk for infantile autism. Our findings suggest that suboptimal birth conditions are not an independent risk factor for infantile autism. A high prevalence of low birth weight and birth defects among autism cases seems to explain the suboptimal birth outcome.

  1. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  2. Biology of Infantile Hemangioma

    PubMed Central

    Itinteang, Tinte; Withers, Aaron H. J.; Davis, Paul F.; Tan, Swee T.

    2014-01-01

    Infantile hemangioma (IH), the most common tumor of infancy, is characterized by an initial proliferation during infancy followed by spontaneous involution over the next 5–10 years, often leaving a fibro-fatty residuum. IH is traditionally considered a tumor of the microvasculature. However, recent data show the critical role of stem cells in the biology of IH with emerging evidence suggesting an embryonic developmental anomaly due to aberrant proliferation and differentiation of a hemogenic endothelium with a neural crest phenotype that possesses the capacity for endothelial, hematopoietic, mesenchymal, and neuronal differentiation. Current evidence suggests a putative placental chorionic mesenchymal core cell embolic origin of IH during the first trimester. This review outlines the emerging role of stem cells and their interplay with the cytokine niche that promotes a post-natal environment conducive for vasculogenesis involving VEGFR-2 and its ligand VEGF-A and the IGF-2 ligand in promoting cellular proliferation, and the TRAIL-OPG anti-apoptotic pathway in preventing cellular apoptosis in IH. The discovery of the role of the renin–angiotensin system in the biology of IH provides a plausible explanation for the programed biologic behavior and the β-blocker-induced accelerated involution of this enigmatic condition. This crucially involves the vasoactive peptide, angiotensin II, that promotes cellular proliferation in IH predominantly via its action on the ATIIR2 isoform. The role of the RAS in the biology of IH is further supported by the effect of captopril, an ACE inhibitor, in inducing accelerated involution of IH. The discovery of the critical role of RAS in IH represents a novel and fascinating paradigm shift in the understanding of human development, IH, and other tumors in general. PMID:25593962

  3. [Spanish consensus on infantile haemangioma].

    PubMed

    Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

    2016-11-01

    Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  5. Perioperative considerations in infantile neuroaxonal dystrophy.

    PubMed

    Sinskey, Jina L; Holzman, Robert S

    2017-03-01

    Infantile neuroaxonal dystrophy is a rare neurological disorder that is universally fatal with life expectancy under 10 years. A 10-year-old boy with infantile neuroaxonal dystrophy and severe neuromuscular scoliosis underwent posterior spinal fusion following halo traction. He was successfully extubated to bilevel positive airway pressure on postoperative day 3 and discharged home on postoperative day 11. Infantile neuroaxonal dystrophy presents several perioperative challenges including concerns for difficult intubation and respiratory dysfunction. © 2017 John Wiley & Sons Ltd.

  6. Conjunctival biopsy in infantile neuroaxonal dystrophy.

    PubMed

    Ferreira, R C; Mierau, G W; Bateman, J B

    1997-02-01

    To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy. We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease. On the basis of "spheroid" inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy. Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test.

  7. Infantile masturbation and paroxysmal disorders.

    PubMed

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  8. Propranolol-resistant infantile haemangiomas.

    PubMed

    Caussé, S; Aubert, H; Saint-Jean, M; Puzenat, E; Bursztejn, A-C; Eschard, C; Mahé, E; Maruani, A; Mazereeuw-Hautier, J; Dreyfus, I; Miquel, J; Chiaverini, C; Boccara, O; Hadj-Rabia, S; Stalder, J-F; Barbarot, S

    2013-07-01

    Propranolol is now widely used to treat severe infantile haemangiomas (IHs). Very few cases of propranolol-resistant IH (PRIH) are mentioned in the literature. To describe the characteristics of PRIHs. A national, multicentre, retrospective, observational study was conducted from February 2011 to December 2011. All patients with PRIH evaluated by the members of the Groupe de Recherche Clinique en Dermatologie Pédiatrique from 1 January 2007 to 1 December 2011 were eligible. Among 1130 patients treated with propranolol for infantile haemangioma, 10 (0.9%) had PRIHs. Haemangioma propranolol resistance was observed at all ages during early childhood and at any proliferation stage. PRIH is a rare phenomenon that raises questions and merits further investigation. © 2013 British Association of Dermatologists.

  9. [Infantile cortical hyperostosis: Case report].

    PubMed

    Rodríguez, Mónica; Martínez, Luz Elena; Cortés, José; de Uña, Armando; Vega, Valentina; Acosta, Mario

    Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent. To present the case of a 4-month child with clinical and radiological symptoms compatible with Infantile Cortical Hyperostosis. A 4-month old male who presented with crying and irritability associated with swelling of the face, arms and legs was admitted to the Emergency Room of National Institute of Pediatrics. Bilateral mandibular swelling extending to periauricular region was observed, with no signs of inflammation. X-ray studies showed a periosteal reaction in the jaw, left femur and tibia, and radius bilateral. Clinical observation combined with analgesics and antipyretics was the only medical intervention. Four to six months after discharge from hospital, the symptoms disappeared, confirming the good prognosis of this condition. Infantile cortical hyperostosis is a collagenopathy, which must be considered as a differential diagnosis in acute bone inflammatory processes, irritability and fever. It is important to understand and identify this disease and clinical-radiological correlation is remarkable. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Infantile colic, facts and fiction

    PubMed Central

    2012-01-01

    Infantile colic is one of the major challenges of parenthood. It is one of the common reasons parents seek medical advice during their child’s first 3 months of life. It is defined as paroxysms of crying lasting more than 3 hours a day, occurring more than 3 days in any week for 3 weeks in a healthy baby aged 2 weeks to 4 months. Colic is a poorly understood phenomenon affecting up to 30% of babies, underlying organic causes of excessive crying account for less than 5%. Laboratory tests and radiological examinations are unnecessary if the infant is gaining weight normally and has a normal physical examination. Treatment is limited and drug treatment has no role in management. Probiotics are now emerging as promising agents in the treatment of infantile colic. Alternative medicine (Herbal tea, fennel, glucose and massage therapy) have not proved to be consistently helpful and some might even be dangerous. In conclusion infantile colic is a common cause of maternal distress and family disturbance, the cornerstone of management remains reassurance of parents regarding the benign and self-limiting nature of the illness. There is a critical need for more evidence based treatment protocols. PMID:22823993

  11. Infantile spasms: A prognostic evaluation

    PubMed Central

    Iype, Mary; Saradakutty, Geetha; Kunju, Puthuvathra Abdul Mohammed; Mohan, Devi; Nair, Muttathu Krishnapanicker Chandrasekharan; George, Babu; Ahamed, Shahanaz M.

    2016-01-01

    Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging. PMID:27293335

  12. Practice Parameter: Medical Treatment of Infantile Spasms

    PubMed Central

    Mackay, M.T.; Weiss, S.K.; Adams-Webber, T.; Ashwal, S.; Stephens, D.; Ballaban-Gill, K.; Baram, T.Z.; Duchowny, M.; Hirtz, D.; Pellock, J.M.; Shields, W.D.; Shinnar, S.; Wyllie, E.; Snead, O.C.

    2010-01-01

    Objective To determine the current best practice for treatment of infantile spasms in children. Methods Database searches of MEDLINE from 1966 and EMBASE from 1980 and searches of reference lists of retrieved articles were performed. Inclusion criteria were the documented presence of infantile spasms and hypsarrhythmia. Outcome measures included complete cessation of spasms, resolution of hypsarrhythmia, relapse rate, developmental outcome, and presence or absence of epilepsy or an epileptiform EEG. One hundred fifty-nine articles were selected for detailed review. Recommendations were based on a four-tiered classification scheme. Results Adrenocorticotropic hormone (ACTH) is probably effective for the short-term treatment of infantile spasms, but there is insufficient evidence to recommend the optimum dosage and duration of treatment. There is insufficient evidence to determine whether oral corticosteroids are effective. Vigabatrin is possibly effective for the short-term treatment of infantile spasm and is possibly also effective for children with tuberous sclerosis. Concerns about retinal toxicity suggest that serial ophthalmologic screening is required in patients on vigabatrin; however, the data are insufficient to make recommendations regarding the frequency or type of screening. There is insufficient evidence to recommend any other treatment of infantile spasms. There is insufficient evidence to conclude that successful treatment of infantile spasms improves the long-term prognosis. Conclusions ACTH is probably an effective agent in the short-term treatment of infantile spasms. Vigabatrin is possibly effective. PMID:15159460

  13. Clinical management of infantile cholelithiasis.

    PubMed

    Jeanty, Cerine; Derderian, S Christopher; Courtier, Jesse; Hirose, Shinjiro

    2015-08-01

    Infantile cholelithiasis is a rare disease process, and management strategies are poorly defined. We therefore examined the risk factors, complications, and management of this disease at our institution. We retrospectively reviewed infants with cholelithiasis diagnosed on ultrasound between 1997 and 2013. Details of the patient's medical history, presentation, imaging findings, laboratory values, and treatment were reviewed and analyzed. Over the 16-year period, 50 infants were evaluated for cholelithiasis. Thirty-seven (74%) had at least one risk factor for gallstone development which included total parenteral nutrition, diuretic therapy, cephalosporin antibiotic treatment, sepsis, congenital heart disease (CHD), prematurity, or a malabsorptive gastrointestinal condition. Thirteen (26%) infants were symptomatic, most commonly presenting with emesis and jaundice. Complications from gallstones included choledocholithiasis (9), cholecystitis (3), and pancreatitis (1). Nearly half (6/13) of patients with complicated cholelithiasis had CHD. Of infants presenting with complications, 9 had a cholecystectomy, most commonly via a laparoscopic approach, 2 had an ERCP for choledocholithiasis, and 2 were medically managed. In patients managed conservatively, resolution of gallstones occurred in 25%. Infantile cholelithiasis has variable outcomes ranging from spontaneous resolution to choledocholithiasis or cholecystitis. While patients with complicated cholelithiasis often undergo an operation, infants <1year of age have higher anesthetic and surgical risks. Conservative management with ERCP or medical treatment can also be successful, which offers an alternative to operative intervention in properly selected patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. Signaling mechanisms in infantile hemangioma

    PubMed Central

    Boye, Eileen; Olsen, Bjorn R.

    2010-01-01

    Purpose of review Infantile hemangioma is a common vascular tumor with a unique lifecycle: rapid growth in infancy, followed by a period of involution, leading to complete regression. This review summarizes recent studies of molecular mechanisms of hemangioma formation and places new findings and hypotheses in the context of past accomplishments. Recent findings The new work identifies a novel signaling pathway for vascular growth factor and extracellular matrix regulation in vascular endothelial cells and provides a basis for novel therapeutic strategies. In hemangioma-derived endothelial cells defects in a vascular endothelial growth factor receptor/integrin complex reduce the expression of a vascular endothelial growth factor decoy receptor. As a consequence, hemangioma endothelial cells exhibit constitutive vascular endothelial growth factor signaling. Germ-line mutations in components of the growth factor receptor/integrin complex in some hemangioma patients, and somatic mutations in a phosphatase in sporadic hemangioma specimens, raise the possibility that hemangioma formation involves a combination of germline risk factor mutations and somatic mutations, similar to what recent studies have shown is the case for venous malformations. Summary Alterations in pathways that negatively control vascular endothelial growth factor signaling in vascular endothelial cells are responsible for the formation and rapid growth of infantile hemangiomas. PMID:19367160

  15. Infantile Colic: Recognition and Treatment.

    PubMed

    Johnson, Jeremy D; Cocker, Katherine; Chang, Elisabeth

    2015-10-01

    Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks. It affects approximately 10% to 40% of infants worldwide and peaks at around six weeks of age, with symptoms resolving by three to six months of age. The incidence is equal between sexes, and there is no correlation with type of feeding (breast vs. bottle), gestational age, or socioeconomic status. The cause of infantile colic is not known; proposed causes include alterations in fecal microflora, intolerance to cow's milk protein or lactose, gastrointestinal immaturity or inflammation, increased serotonin secretion, poor feeding technique, and maternal smoking or nicotine replacement therapy. Colic is a diagnosis of exclusion after a detailed history and physical examination have ruled out concerning causes. Parental support and reassurance are key components of the management of colic. Simethicone and proton pump inhibitors are ineffective for the treatment of colic, and dicyclomine is contraindicated. Treatment options for breastfed infants include the probiotic Lactobacillus reuteri (strain DSM 17938) and reducing maternal dietary allergen intake. Switching to a hydrolyzed formula is an option for formula-fed infants. Evidence does not support chiropractic or osteopathic manipulation, infant massage, swaddling, acupuncture, or herbal supplements.

  16. Management of difficult infantile haemangiomas.

    PubMed

    Maguiness, Sheilagh M; Frieden, Ilona J

    2012-03-01

    Infantile haemangiomas are common vascular tumours of infancy. They typically present shortly after birth, undergo a period of rapid proliferation, and then slowly involute over many years. Although most patients require no intervention, appropriate investigation and treatment may be necessary in a minority of cases. Identifying which patients require further investigation or intervention can be difficult due to the heterogeneity of clinical presentation. This is compounded by a lack of rigorous randomised controlled trials on haemangioma management. Therefore, the rationale for treatment is not always straightforward. Haemangiomas occur anywhere on the body, have superficial, deep or mixed morphology, and depending on anatomic location, size and subtype, can be associated with underlying structural anomalies and many other potential complications. Generally, the management of difficult haemangiomas is best approached on a case-by-case basis. Over the last few years, there have been several advances in our understanding of haemangiomas, together with some exciting new therapeutic options. In the following review, the authors discuss the various possible complications of infantile haemangiomas, the rationale for treatment and appropriate possible interventions.

  17. Food allergy and infantile autism.

    PubMed

    Lucarelli, S; Frediani, T; Zingoni, A M; Ferruzzi, F; Giardini, O; Quintieri, F; Barbato, M; D'Eufemia, P; Cardi, E

    1995-09-01

    The etiopathogenesis of infantile autism is still unknown. Recently some authors have suggested that food peptides might be able to determine toxic effects at the level of the central nervous system by interacting with neurotransmitters. In fact a worsening of neurological symptoms has been reported in autistic patients after the consumption of milk and wheat. The aim of the present study has been to verify the efficacy of a cow's milk free diet (or other foods which gave a positive result after a skin test) in 36 autistic patients. We also looked for immunological signs of food allergy in autistic patients on a free choice diet. We noticed a marked improvement in the behavioural symptoms of patients after a period of 8 weeks on an elimination diet and we found high levels of IgA antigen specific antibodies for casein, lactalbumin and beta-lactoglobulin and IgG and IgM for casein. The levels of these antibodies were significantly higher than those of a control group which consisted of 20 healthy children. Our results lead us to hypothesise a relationship between food allergy and infantile autism as has already been suggested for other disturbances of the central nervous system.

  18. The Link Between Infantile Colic and Migraine.

    PubMed

    Qubty, William; Gelfand, Amy A

    2016-05-01

    Infantile colic is a self-limiting disorder of excessive infant crying or fussiness that peaks at 6 weeks of age and typically improves by 3 months of age. The etiology of infantile colic has yet to be definitively elucidated, but there is increasing research to support its relationship to migraine. The aims of this review are to present recent research investigating the connection between infantile colic and migraine. The importance of identifying this connection is useful in reducing invasive and potentially harmful investigations and to identify age appropriate pharmacologic interventions that would be safe in this population.

  19. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  20. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  1. Coincidence of Tourette's Disorder and Infantile Autism.

    ERIC Educational Resources Information Center

    Realmunto, George M.; Main, Bart

    1982-01-01

    A case study reports on a 13-year-old diagnosed with infantile autism coincidental to Tourette Syndrome, a neurological disorder associated with involuntary movements. The study reports on medication and similarities between the two disorders. (CL)

  2. Infantile myofibromatosis: report of nine patients.

    PubMed

    Larralde, Margarita; Hoffner, Mariana V; Boggio, Paula; Abad, María Eugenia; Luna, Paula C; Correa, Noemí

    2010-01-01

    Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Although most of the cases are limited to the skin, in some instances systemic involvement can be present. Solitary tumors limited to the skin usually present a good prognosis with spontaneous regression. We performed a retrospective observational review of the clinical and pathologic characteristics of nine patients diagnosed as having infantile myofibromatosis, followed during a 10-year period in a Pediatric Dermatology Department.

  3. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved.

  4. Infantile haemangioma: a complicated disease.

    PubMed

    Qiu, Mingke; Qi, Xianqin; Dai, Yuxin; Wang, Shuqing; Quan, Zhiwei; Liu, Yingbin; Ou, Jingmin

    2015-06-01

    Infantile haemangiomas (IH) are common benign vascular tumors of childhood. They are characterised by rapid growth during the first year of life and slow regression that is usually completed by 7-10 years of age. The underlying mechanism of action of IH is aberrant angiogenesis and vasculogenesis, and involves the mammalian target of rapamycin pathway and vascular endothelial growth factor pathway. IH become a challenge if they are part of a syndrome, are located in certain areas of the body, or if complications develop. The beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. This review focuses on the clinical characteristics, pathogenesis and management of IH.

  5. A Survey of Infantile Gastroenteritis

    PubMed Central

    Ironside, Alastair G.; Tuxford, Ann F.; Heyworth, Barrie

    1970-01-01

    In 1967 we admitted 339 cases of infantile gastroenteritis; one-third of these were dehydrated, and in this group the commonest biochemical abnormality found was hypernatraemia, sometimes with metabolic acidosis. A higher incidence of dehydration was found in the patients who had received oral glucose fluids before admission. Enteropathic Escherichia coli were isolated from the faeces of 16% of the cases. Associated infections, especially of the respiratory tract, were common. Treatment was aimed at the restoration of fluid and electrolyte balance. Usually this was achieved with oral fluids, though intravenous fluids were used in the most severely dehydrated cases. Recovery was complete in 320 cases and a further 14 cases were discharged as carriers of enteropathic E. coli. There were five deaths (1·5%) in the series; three occurred immediately after admission. PMID:4913493

  6. Diagnosing infantile spasms: Accuracy of the internet.

    PubMed

    Krag, Amara; Holmes, Gregory L

    2016-11-01

    Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy. The reliance on using the internet for diagnostic information raises concerns about the accuracy of posted material that has not undergone professional review. To assess the quality of information being obtained about infantile spasms, we reviewed written and video content addressing infantile spasms on the internet. A total of 135 websites and 156 videos were reviewed for accuracy. Using the search terms Infantile Spasms and West Syndrome, we report that the majority of the written and video information provided was accurate and provided important and pertinent information. We conclude that internet searches provide accurate and pragmatic information about infantile spasms that has the potential for reducing the delay between the onset of the spasms and medical intervention. Copyright © 2016. Published by Elsevier Inc.

  7. Myeloid Cells in Infantile Hemangioma

    PubMed Central

    Ritter, Matthew R.; Reinisch, John; Friedlander, Sheila Fallon; Friedlander, Martin

    2006-01-01

    Little is known about the pathogenesis of infantile hemangiomas despite the fact that they are relatively common tumors. These benign neoplasms occur in as many as 1 in 10 births, and although rarely life threatening, hemangiomas can pose serious concerns to the cosmetic and psychosocial development of the afflicted child. Ulceration, scarring, and disfigurement are significant problems as are encroachment of the ear and eye, which can threaten hearing and vision. The precise mechanisms controlling the rapid growth observed in the first months of life and the spontaneous involution that follows throughout the course of years remain unknown. In this report we demonstrate the presence of large numbers of hematopoietic cells of the myeloid lineage in proliferating hemangiomas and propose a mechanism for the observed evolution of these lesions that is triggered by hypoxia and involves the participation of myeloid cells. We report the results of experiments using myeloid markers (CD83, CD32, CD14, CD15) that unexpectedly co-labeled hemangioma endothelial cells, providing new evidence that these cells are distinct from normal endothelium. PMID:16436675

  8. Propranolol for Treatment of Genital Infantile Hemangioma.

    PubMed

    Tran, Christine; Tamburro, Joan; Rhee, Audrey; Golden, Alex

    2016-03-01

    Genital infantile hemangiomas are vascular anomalies that often require complex management and interdisciplinary care. Propranolol was first used to treat patients with infantile hemangiomas in 2008 and has since gained acceptance as first-line therapy. We review the presentation, course, management and outcomes of all cases of genital infantile hemangiomas managed by propranolol administration at a single institution from April 2010 to July 2014. During the study period 9 patients with genital infantile hemangiomas were referred to our hemangioma treatment clinic. Propranolol was initially administered under careful outpatient monitoring at a dose of 1 mg/kg daily in 8 patients. One patient, a 700 gm premature infant, was started on therapy in the inpatient setting at 0.5 mg/kg daily, given the history of prematurity. All patients underwent successful increase of dose to at least 2 mg/kg for the observation phase after tolerating the starting doses. One patient discontinued propranolol prematurely per parental request due to concern regarding peripheral vasoconstriction. Otherwise, no patient demonstrated significant hypotension, symptomatic bradycardia, hypoglycemia or other major side effect requiring treatment discontinuation. All patients who continued the treatment protocol had excellent response to therapy. Propranolol therapy for genital infantile hemangiomas was successfully initiated and the dosage increased in 9 young children without significant side effects and with marked improvement in all patients who continued on treatment. Propranolol is the only Food and Drug Administration approved therapy for treatment of patients with this vascular anomaly and should be considered first-line therapy for genital infantile hemangiomas. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  9. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  10. [Infantile cortical hyperostosis. Apropos of 8 cases].

    PubMed

    Arnal, J M; Moneo, M I; Baldellou, A

    1988-02-01

    Retrospective analysis of eight patients suffering from infantile cortical hyperostosis shows clearly autosomic dominant inheritance of the disease, the strong variation in the clinical expressivity, and therefore the need for an in deep work-up of the patient and his relatives in the presence of any suspicious symptom.

  11. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  12. A Formula for Early Infantile Autism.

    ERIC Educational Resources Information Center

    Roy, M. Aaron

    Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

  13. Low-dose propranolol for infantile haemangioma.

    PubMed

    Tan, Swee T; Itinteang, Tinte; Leadbitter, Philip

    2011-03-01

    In 2008, propranolol was serendipitously observed to cause accelerated involution of infantile haemangioma. However, the mechanism by which it causes this dramatic effect is unknown, the dosage empirical and the optimal duration of treatment unexplored. This study determines the minimal dosage and duration of propranolol treatment to achieve accelerated involution of problematic infantile haemangioma. Consecutive patients with problematic proliferating infantile haemangioma treated with propranolol were culled from our prospective vascular anomalies database. The patients were initially managed as inpatients and commenced on propranolol at 0.25 mg kg(-1) twice daily, and closely monitored. The dosage was increased to 0.5 mg kg(-1) twice daily after 24 h, if there was no cardiovascular or metabolic side effect. The dosage was increased further by 0.5 mg kg(-1) day(-1) until a visible effect was noticed or up to a maximum of 2 mg kg(-1) day(-1), and was maintained until the lesion had fully involuted or the child was 12-months old. A total of 15 patients aged 3 weeks to 8.5 months (mean, 11 weeks) underwent propranolol treatment for problematic proliferating infantile haemangioma, which threatened life (n=1) or vision (n=2) or nasal obstruction (n=3) and/or caused ulceration (n=6) and/or bleeding (n=2) and/or significant tissue distortion (n=12). The minimal dosage required to achieve accelerated involution was 1.5-2.0 mg kg(-1) day(-1). Rebound growth occurred in the first patient when the dose was withdrawn at 7.5 months of age requiring reinstitution of treatment. No rebound growth was observed in the remaining patients. No other complications were observed. Propranolol at 1.5-2.0 mg kg(-1) day(-1), administered in divided doses with gradual increase in the dose, is effective and safe for treating problematic proliferating infantile haemangioma in our cohort of patients. Treatment should be maintained until the lesion is completely involuted or the child is 12

  14. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed

    Avery, A A

    1999-07-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict.

  15. The hazards of honey: infantile botulism.

    PubMed

    Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth

    2010-09-29

    Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum-an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source-a jar of honey. The importance of food labelling as a public health message is highlighted.

  16. [Primary hepatic infantile hemangioendothelioma (author's transl)].

    PubMed

    Pollice, L; Pagliarulo, G

    1975-01-01

    Primary hepatic infantile hemangioendothelioma is a rare tumor, characterized by its appearance in early infancy as well as by the frequent association with various malformations and with similar angiomatous tumors of other tissues and organs. It may be single or multinodular and it is often complicated by severe peritoneal hemorrhage. Tow histologic types of this tumor are known: tipe 1 is sharply circumscribed and is considered similar to so called capillary hypertrophic hemangioma, while type 2, by showing aggressive, infiltrative and anaplastic features, is rather close to angiosarcoma. Clinical and pathological data concerning two cases of type 2 primary hepatic infantile hemangioendothelioma are reported. On the basis of experimental results and epidemiological data on hepatic angiosarcoma of adults, a possible etiopathogenetic relationship with maternal exposure during pregnancy to dangerous environmental factors is postulated.

  17. [Giant infantile hepatic hemangioma: which therapeutic options?].

    PubMed

    Gonçalves, Cristina; Lobo, Luisa; Anjos, Rui; Salgueiro, Carlos; Lopes, Ana Isabel

    2013-01-01

    Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.

  18. The "infantilization" of a cichlid fish.

    PubMed

    Shaw, E; Innes, K

    1980-03-01

    This paper reports a rather remarkable phenomenon, which we have termed "infantilization." Young acaras, 7 to 17 days postspawning age and normally freely swimming, will resume their nesting phase when placed with foster parents' brooding embryos or wrigglers. The foster parents do not eat these alien young when the young assume a behavior pattern similar to that of their own brood, namely, nest-bound and quiescent.

  19. Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

    PubMed

    Doneray, Hakan; Aldahmesh, Mohammed; Yilmaz, Gulsah; Cinici, Emine; Orbak, Zerrin

    2017-06-01

    Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.

  20. Infantile Hemangioendothelioma of the Parotid Gland

    PubMed Central

    Chaubal, Rajas; Tavri, Om; Sawant, Atul; Singh, Chitrangada

    2017-01-01

    A 4-month-old infant presented with a painless swelling overlying the left angle of mandible. Ultrasound and magnetic resonance imaging (MRI) revealed a large lesion replacing the entire left parotid gland, with multiple enlarged vessels. Homogeneous enhancement of the lesion was seen on the postcontrast MRI scans. Based on the imaging features, a diagnosis of infantile hemangioendothelioma of the parotid gland was offered. This helped in avoiding any further invasive testing. PMID:28217408

  1. The infantile in the analytic relationship.

    PubMed

    Guignard, F

    1995-12-01

    The author examines the narcissistic and relational aspects of the preconscious functioning of the analytic couple in order to bring out the drive-related, developmental and structural elements of the infantile in their relationship. She considers that any disruption of the specific tone of an analysis indicates a change in the level of drive excitation, which is experienced unconsciously in the transference and countertransference as the loss of a significant internal object and gives rise to a representational deficiency. Where this is due to the impact of the infantile-in-the-patient on his own preconscious, the analyst suffers a blind spot. As long as he can desist from using 'blocking representations', the effect will be to repress the unrepresented wish and at the same time to create a framing and containing preform beneficial to the treatment. In the author's view, the analyst deals with his blind spot by a 'work of the negative' à la André Green, through denial of his fantasy of seduction by the infantile omnipotence of the analysand. This model can also be used to investigate the termination criteria of the analyst's own analysis and the economic situation of repression in the psychoanalyst's work.

  2. Infantile botulism: a case report and review.

    PubMed

    Brown, Nicole; Desai, Sameer

    2013-12-01

    Infantile botulism is the result of ingestion of Clostridium botulinum spores, and is the most common form of infection with botulism in the United States. Ninety percent of cases occur in infants <6 months old. The infants typically present with vague symptoms such as hypotonia and poor feeding. This article reports an infant with confirmed infantile botulism that presented to the Emergency Department (ED) with complaints of decreased feeding and absence of bowel movements for >1 week. Review a case of infantile botulism, its diagnosis, and treatment. A 4-month-old healthy Caucasian male presented to the ED with a 6-day history of decreased feeding after referral from the pediatrician. He had not had a bowel movement for 9 days, and his parents were also concerned about increasing weakness, as he was no longer able to hold his head up on his own. In the ED, he was minimally interactive. His vital signs were within normal limits, and he had hypoactive bowel sounds and decreased tone throughout. He was admitted to the Children's Hospital and eventually transferred to the Pediatric Intensive Care Unit requiring intubation and mechanical ventilation. The botulism immunoglobulin was administered, and a diagnosis was confirmed with positive botulinum toxin in the stool samples. Full recovery was made by the infant. Awareness of the symptoms of botulism and a high degree of clinical suspicion is needed to make a prompt diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Infantile pulmonary tuberculosis: the great mimic.

    PubMed

    Varik, Roma Subhash; Shubha, Attibele Mahadevaiah; Lewin, Maria; Alexander, Betty; Kini, Usha; Das, Kanishka

    2012-06-01

    Infantile tuberculosis is common in developing countries and rarely presents as space occupying thoracic lesions mimicking congenital malformations. This case series reviews four such infants with varied presentations and their outcome. Four cases of infantile pulmonary/mediastinal tuberculosis that presented like congenital thoracic lesions are described. Details of demography, symptomatology, contact history, immunization status, provisional diagnosis, tuberculin testing, imaging, histopathology, final diagnosis, management and outcome were retrospectively collated and analyzed. They were 4-6-month males, term-born and immunized. They presented with pneumonia/hyperactive airway disease since 2-12 weeks. One had a suspect and another a close tuberculous contact. The provisional diagnosis after imaging were infected congenital lung cyst, posterior mediastinal cyst and bronchopulmonary malformation. Two were tuberculin positive; none had gastric acid-fast bacilli. One underwent a pulmonary lobectomy for necrotic lung cyst; the second had a biopsy and drainage of a posterior mediastinal cyst that contained caseating material and was densely adherent to the esophagus. Surgical biopsy showed necrotizing granulomatous inflammation in both; one with acid-fast bacilli. Both succumbed to postoperative complications. The other two with tuberculous contacts who were managed with early antituberculous therapy, responded well and recovered uneventfully. Infantile pulmonary/mediastinal tuberculosis may mimic congenital thoracic malformations. A review of contact history, investigations and imaging help to establish the tuberculous etiology, avoids surgical misadventures and prompts early antituberculous therapy to achieve a favorable outcome.

  4. Nadolol for the treatment of infantile hemangioma.

    PubMed

    Villalba-Moreno, Angela M; Cotrina-Luque, Jesus; Del Vayo-Benito, Concepcion Alvarez; Flores-Moreno, Sandra; Bautista-Paloma, Francisco J

    2015-01-01

    The successful use of nadolol as an alternative to propranolol therapy in three cases of infantile hemangioma is reported. Infantile hemangioma is a benign vascular neoplastic disorder that affects up to 10% of newborns and can lead to deformity or local complications in severe cases. Propranolol, administered alone or in combination with corticosteroids, is increasingly used to treat infantile hemangioma, but its ability to cross the blood-brain barrier and potentially cause central nervous system adverse effects has prompted research on alternative β-blocker therapies for the disorder that have more favorable safety profiles, including nadolol. This article describes the use of nadolol to treat three pediatric patients with a buccal or genital hemangioma who developed adverse reactions (mainly, irritability and sleep disturbances) or resistance to initial treatment with propranolol. The patients were 10 months, 12 months, and 4 years of age, respectively, when hemangioma treatment was initiated. The results of nadolol therapy were favorable, with involution of lesions and gradual disappearance of propranolol-associated adverse effects occurring in all three cases. As with any use of β-blocker therapy in a pediatric patient, a cardiac workup is advised before the start of nadolol therapy; blood pressure and heart rate monitoring should be performed at one and two hours after the first dose and continued during dose escalation. Nadolol was an effective alternative to propranolol in three pediatric patients with hemangiomas. Copyright © 2015 by the American Society of Health-System Pharmacists, Inc. All rights reserved.

  5. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  6. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  7. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  8. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  9. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  10. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  11. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  12. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  13. Natural History of Infantile GM2 Gangliosidosis

    PubMed Central

    Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

    2011-01-01

    OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

  14. A case of infantile star anise toxicity.

    PubMed

    Madden, Gregory Russell; Schmitz, Kristine Held; Fullerton, Katherine

    2012-03-01

    Chinese star anise (Illicium verum) is a popular herbal remedy for infantile colic. Contamination with a related species of Japanese star anise (Illicium anisatum) has been related to cases of toxicity in infants. We report the case of a 3-month-old infant girl who presented to the emergency department with signs and symptoms of toxicity after recent star anise ingestion. Her presentation is consistent with other reports of toxicity that include particular gastrointestinal and neurological findings. A discussion of the clinical aspects of star anise toxicity, differential diagnosis, and management follows.

  15. Factors associated with infantile hypertrophic pyloric stenosis.

    PubMed

    Jedd, M B; Melton, L J; Griffin, M R; Kaufman, B; Hoffman, A D; Broughton, D; O'Brien, P C

    1988-03-01

    We examined perinatal factors in relation to the rise in incidence of infantile hypertrophic pyloric stenosis among children in Olmsted County, Minnesota, during the period from 1950 through 1984. Primogeniture was associated with male infants but not female infants; some factor related to primogeniture, such as breast-feeding, may be etiologically important. Our data did not support a role for maternal disease, use of doxylamine succinate-pyridoxide hydrochloride (Bendectin), or an infectious process. Further study should be directed toward environmental factors associated with primogeniture.

  16. Infantile spasms syndrome in monozygotic twins.

    PubMed Central

    Pavone, L; Mollica, F; Incorpora, G; Pampiglione, G

    1980-01-01

    The infantile spasms syndrome appeared on the same day in a pair of monozygotic twins at age 6 months. Clinical, electroencephalographic, and neuroradiological findings during the development of the disease are reported. One of the twins was treated with ACTH and in his case clinical and electroencephalographic improvement was more rapid than in the other who was treated with clonazepam. While the computer tomography scan initially showed in each twin an area of low density in the right fronto-parietal region, this had disappeared in the tomograms obtained about 8 months later. PMID:6254446

  17. Infantile spasms syndrome in monozygotic twins.

    PubMed

    Pavone, L; Mollica, F; Incorpora, G; Pampiglione, G

    1980-11-01

    The infantile spasms syndrome appeared on the same day in a pair of monozygotic twins at age 6 months. Clinical, electroencephalographic, and neuroradiological findings during the development of the disease are reported. One of the twins was treated with ACTH and in his case clinical and electroencephalographic improvement was more rapid than in the other who was treated with clonazepam. While the computer tomography scan initially showed in each twin an area of low density in the right fronto-parietal region, this had disappeared in the tomograms obtained about 8 months later.

  18. Cerebellar hypoperfusion in infantile neuroaxonal dystrophy.

    PubMed

    Kóbor, Jeno; Javaid, Ahmad; Omojola, Matthew F

    2005-02-01

    An identical abnormal pattern was detected by means of (99m)Tc-hexamethyl-propyleneamine-oxime single-photon emission computed tomography in two siblings with infantile neuroaxonal dystrophy. The markedly decreased cerebellar perfusion, along with the early motor symptoms, characteristic magnetic resonance imaging and pathologic findings, points to a preferential cerebellar involvement in this disease. A relative increase in the perfusion to the basal ganglia correlated with the magnetic resonance imaging abnormalities, highly resembling that of Hallervorden-Spatz disease in one of the males, at this site.

  19. Evidence-based guideline update: Medical treatment of infantile spasms

    PubMed Central

    Go, C.Y.; Mackay, M.T.; Weiss, S.K.; Stephens, D.; Adams-Webber, T.; Ashwal, S.; Snead, O.C.

    2012-01-01

    Objective: To update the 2004 American Academy of Neurology/Child Neurology Society practice parameter on treatment of infantile spasms in children. Methods: MEDLINE and EMBASE were searched from 2002 to 2011 and searches of reference lists of retrieved articles were performed. Sixty-eight articles were selected for detailed review; 26 were included in the analysis. Recommendations were based on a 4-tiered classification scheme combining pre-2002 evidence and more recent evidence. Results: There is insufficient evidence to determine whether other forms of corticosteroids are as effective as adrenocorticotropic hormone (ACTH) for short-term treatment of infantile spasms. However, low-dose ACTH is probably as effective as high-dose ACTH. ACTH is more effective than vigabatrin (VGB) for short-term treatment of children with infantile spasms (excluding those with tuberous sclerosis complex). There is insufficient evidence to show that other agents and combination therapy are effective for short-term treatment of infantile spasms. Short lag time to treatment leads to better long-term developmental outcome. Successful short-term treatment of cryptogenic infantile spasms with ACTH or prednisolone leads to better long-term developmental outcome than treatment with VGB. Recommendations: Low-dose ACTH should be considered for treatment of infantile spasms. ACTH or VGB may be useful for short-term treatment of infantile spasms, with ACTH considered preferentially over VGB. Hormonal therapy (ACTH or prednisolone) may be considered for use in preference to VGB in infants with cryptogenic infantile spasms, to possibly improve developmental outcome. A shorter lag time to treatment of infantile spasms with either hormonal therapy or VGB possibly improves long-term developmental outcomes. PMID:22689735

  20. Response to propranolol in infantile hemangioma.

    PubMed

    Sirachainan, Nongnuch; Lekanan, Wasuthida; Thammagasorn, Yuwaluk; Wanitkun, Suthep; Kadegasem, Praguywan; Chunharas, Amornsri

    2016-07-01

    Propranolol, 2 mg/kg/day, is effective in the treatment of infantile hemangioma. We report the response to propranolol in infants with hemangioma at a dose of 1 mg/kg/day. Sixteen infants with newly diagnosed infantile hemangioma were given propranolol at a dose titrated from 0.5 mg/kg/day then increased to 1 or 2 mg/kg/day based on response to treatment until the lesions showed clinical stability for 3 consecutive months. Five out of 16 patients (31.2%) responded to propranolol at 1 mg/kg/day, while the remainder required 2 mg/kg/day for response. Vascular endothelial growth factor significantly decreased after treatment (median, 117.8 pg/mL; range, 35.3-468.7 pg/mL vs 59.2 pg/mL; range, 26.3-133.0 pg/mL; P = 0.016). Therefore, we recommend initiating treatment at 0.5 mg/kg/day for 2 days, then 1 mg/kg/day for 1 month. If the hemangioma has not decreased in size by 1 month follow up, the dose is subsequently increased to 2 mg/kg/day. © 2016 Japan Pediatric Society.

  1. Congenital infantile fibrosarcoma: Association with bleeding diathesis

    PubMed Central

    Salman, Mayssaa; Khoury, Nabil J.; Khalifeh, Ibrahim; Abbas, Hussein A.; Majdalani, Marianne; Abboud, Miguel; Muwakkit, Samar; Solh, Hassan El; Saab, Raya

    2013-01-01

    Patient: Male, 2 month Final Diagnosis: Congenital infantile fibrosarcoma Symptoms: Bleeding Medication: Vincristine • actinomycin • cyclophosphamide Clinical Procedure: Surgical resection Specialty: Pediatric Oncology Objective: Diagnostic/therapeutic accidents Background: Congenital infantile fibrosarcoma (CIF) is a soft-tissue tumor occurring during the first 2 years of life, most commonly in the extremities. CIF is frequently initially misdiagnosed as a vascular tumor, but its association with bleeding and coagulopathy has not been well characterized. Case Reports: We describe 2 infants with CIF presenting with bleeding and coagulopathy, requiring urgent intervention. Both patients did well; one underwent partial resection followed by chemotherapy, and the other received 2 cycles of chemotherapy followed by gross total resection. We also provide a review of all reported cases of coagulopathy in the setting of CIF in the English literature, uncovering an association that seems to be more prevalent in patients diagnosed in the neonatal period, with associated anemia and thrombocytopenia, and a significant mortality rate. Conclusions: CIF needs to be considered in the differential diagnosis of vascular congenital tumors, especially when there is evidence of bleeding, anemia, or thrombocytopenia. PMID:24265847

  2. Infantile esotropia: risk factors associated with reoperation

    PubMed Central

    Magli, Adriano; Rombetto, Luca; Matarazzo, Francesco; Carelli, Roberta

    2016-01-01

    The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years. Statistical analysis was performed with a logistical regression model in which the dependent variable was the presence/absence of reoperation. We found that late surgery (after 3 years of age) and a family history of strabismus are associated with a higher risk of reoperation, while some clinical factors, including some classically associated with worst motor outcome as preoperative angle, dissociated vertical deviation, and amblyopia, did not influence the incidence of reoperation in infantile esotropia. Male patients and patients with hyperopia in preoperative examinations have a significantly decreased reoperation rate. PMID:27799735

  3. Infantile botulism caused by Clostridium butyricum type E toxin.

    PubMed

    Abe, Yuichi; Negasawa, Tetsuro; Monma, Chie; Oka, Akira

    2008-01-01

    The case of a 9-month-old boy with infantile botulism caused by Clostridium butyricum type E toxin is reported. Because infantile botulism is rare in Japan, it was difficult to diagnose it at an early stage. Electrophysiologic findings were useful for the diagnosis, and were characterized by incremental responses (waxing) to short intervals and rapid repetitive nerve stimulation. A bioassay for botulism in mice indicated that the patient had botulism due to type E or F botulinum toxin. C. butyricum type E was isolated from his feces, confirming the diagnosis. This is the first known case of infantile botulism due to C. butyricum type E toxin in Japan.

  4. Evidence-Based Medicine in the Treatment of Infantile Hemangiomas.

    PubMed

    Keller, Robert G; Patel, Krishna G

    2015-08-01

    Over the past decade, the treatment of infantile hemangiomas has undergone dramatic breakthroughs. This review critically evaluates the latest literature that supports the myriad treatment options for infantile hemangiomas. It chronicles the fading role of steroid therapy and evolution of propranolol use as the major treatment modality. Although propranolol is helping this disease become more of a medical disease and less of a surgical dilemma, the report also reveals a continued search to find nonsystemic treatment options. In summary, this is an evidence-based medicine review for the treatment of infantile hemangiomas.

  5. Genetics Home Reference: X-linked infantile spasm syndrome

    MedlinePlus

    ... children is delayed. Most affected individuals also have intellectual disability throughout their lives. Related Information What does it ... either of these genes lead to seizures and intellectual disability. Infantile spasms can have nongenetic causes, such as ...

  6. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePlus

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  7. A Case of Infantile Autism Associated with Down's Syndrome.

    ERIC Educational Resources Information Center

    Wakabayashi, Shinichiro

    1979-01-01

    The article presents a case history of infantile autism associated with Down's syndrome, and discusses the relationship between the two conditions. Among the aspects covered are the child's family history and his developmental and medical history. (DLS)

  8. Cor pulmonale in a case of infantile Gaucher's disease.

    PubMed

    Patra, Soumya; Chatterjee, Sayan; Singhla, Shilpi; Patra, Bijoy; Maheswari, Anu; Seth, Anju

    2011-04-01

    Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typical of interstitial and airspace disease. Cor pulmonale in this patient was a result of severe pulmonary hypertension.

  9. Infantile or Malignant Osteopetrosis: Case Report of Two Siblings

    PubMed Central

    Rao P., Tarakeswara; V., Sunita; T.P., Gandhi; Harsha, Sri

    2013-01-01

    Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy respiration, progressive blindness and developmental delay. PMID:24086906

  10. Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.

    PubMed Central

    Arsénio-Nunes, M L; Goutières, F

    1978-01-01

    Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy. Images PMID:671062

  11. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery.

  12. Infantile Periocular Haemangioma: Optimising the Therapeutic Response.

    PubMed

    Taylor, Robert H

    2016-06-01

    Oral propranolol is now established as the first-line treatment for infantile haemangiomas, and used in up to 20 % of all cases. Propranolol use in infants is most commonly instigated in a controlled environment to monitor for potential serious adverse events such as hypoglycaemia and hypotension. Two test doses are recommended, the first one of 300 μg/kg followed by 2-hourly monitoring. On the subsequent day, a further dose of 650 μg/kg is administered with the same monitoring. A dose of 2 mg/kg divided into three is started from the next day. Parents/carers need to be warned of common adverse effects, of which disturbed sleep is the commonest. Treatment is recommended for up to a year to avoid rebound growth and the need to restart the treatment.

  13. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  14. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma.

    PubMed

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K C; Choi, Paul C L

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments.

  15. Infantile Sandhoff's disease with peripheral neuropathy.

    PubMed

    Jain, Anuj; Kohli, Ashok; Sachan, Deepak

    2010-06-01

    Sandhoff's disease is a rare autosomal-recessive disorder of sphingolipid metabolism that results from a deficiency of lysosomal enzyme beta-hexosaminidase A and B. The resultant accumulation of GM2 gangliosides within both grey matter and the myelin sheath of white matter results in essential, severe neurodegeneration. We describe a 14-month-old boy with seizures and severe neurodegeneration. His diagnosis was confirmed by neuroimaging and enzyme assay. In addition to the classic features of Sandhoff's disease, the child's clinical features were suggestive of neuropathy as supported by nerve conduction studies indicating that the bilateral median, ulnar, and common peroneal nerves were affected. Peripheral nervous system involvement is not consistently observed in infantile Sandhoff's disease, prompting us to report this case. Copyright 2010 Elsevier Inc. All rights reserved.

  16. [Infantile neuroaxonal dystrophy: report of 2 cases].

    PubMed

    Scola, R H; Werneck, L C; Ramos, C S; Barea, L M; da Cunha, F M; Sanderson, A M

    1999-12-01

    We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, with autosomal recessive inheritance. The first case was an 8 year old boy, with arrested motor and mental development, ataxia and muscle weakness. On physical examination there was horizontal and vertical nystagmus, optic disc atrophy, hypotonia; deep tendon reflexes were absent. The second case was a 1.6 year old boy with arrested motor and mental development, and seizures. On physical examination there was optic atrophy, hypertonia and hyperreflexia. Both patients had on sural nerve biopsy neuronal enlargement, consistent with neuroaxonal dystrophy. Diagnosis without pathological confirmation with neuroaxonal spheroids is very difficult, because the clinical picture is variable and the neurophysiological findings are non specific.

  17. Infantile neuroaxonal dystrophy caused by uniparental disomy.

    PubMed

    Solomons, Joyce; Ridgway, Oliver; Hardy, Carol; Kurian, Manju A; Kurian, Manju; Jayawant, Sandeep; Hughes, Sarah; Pretorius, Pieter; Németh, Andrea H

    2014-04-01

    Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the phospholipase A2 group 6 (Pla2G6) gene. Affected individuals usually present between the ages of 6 months and 2 years with rapid cognitive and motor regression and axial hypotonia. Gait disturbance, limb spasticity, cerebellar signs, and optic atrophy are other common features associated with INAD. Although magnetic resonance imaging (MRI) can sometimes contribute towards the diagnosis, the confirmation of INAD is by Pla2G6 gene analysis. In this case report, we describe the first individual (female) with INAD due to a combination of uniparental heterodisomy and isodisomy; we discuss the possible underlying mechanism and highlight the importance of parental carrier testing in accurately predicting the recurrence risk in these families. We also confirm the recent report of hypertrophy of the clava (also known as the 'gracile tubercle') as a useful MRI sign in INAD. © 2013 Mac Keith Press.

  18. Multifocal infantile haemangioma: a diagnostic challenge.

    PubMed

    Torres, Erica; Rosa, João; Leaute-Labreze, Christine; Soares-de-Almeida, Luis

    2016-06-17

    We describe a case of a newborn who presented with multiple dark red macules that developed into red-to-purple papules associated with thrombocytopaenia. Abdominal ultrasound showed multiple hyperechoic papules and nodules. Endothelial cells from a skin biopsy stained positively for endothelial cell glucose transporter 1, which was consistent with a diagnosis of multifocal infantile haemangioma. At the age of 2 months, the child developed intestinal bleeding and anaemia. Upper and lower endoscopies showed no intestinal haemangiomas. Oral treatment with propranolol (3 mg/kg/day) resulted in complete involution of the skin and hepatic haemangiomas over the period of treatment, which lasted until the child was aged 15 months. This is a rare case of multifocal cutaneous haemangioma with hepatic and probable intestinal involvement, successfully treated with propranolol.

  19. Vitamin D metabolites in idiopathic infantile hypercalcaemia.

    PubMed Central

    Martin, N D; Snodgrass, G J; Cohen, R D; Porteous, C E; Coldwell, R D; Trafford, D J; Makin, H L

    1985-01-01

    Metabolites of vitamin D were measured in plasma from 83 patients with idiopathic infantile hypercalcaemia syndrome who were mentally handicapped but had normal calcium values at the time of the study. No significant difference was detected in the mean plasma concentrations of 25-hydroxyvitamin D2, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D3, or 25,26-dihydroxyvitamin D3 between patients and age matched controls. The mean plasma concentration of 25-hydroxyvitamin D3 was significantly lower in patients than controls but this may be a secondary phenomenon related to less sunlight exposure. In addition, two hypercalcaemic patients with this syndrome were studied during the first year of life, and were found to have normal concentrations of vitamin D metabolites. These findings do not support a role for abnormal vitamin D metabolism in the pathogenesis of this syndrome. PMID:3879160

  20. Infantile Hemangiomas: Pathogenesis and Review of Propranolol Use.

    PubMed

    Laken, Patricia Ann

    2016-04-01

    Infantile hemangiomas are complex benign vascular tumors that present after birth. Hemangioma lesions have a predictable course of growth, but little is understood about the mechanism behind their development. Infantile hemangiomas are considered proliferative lesions of the endothelial cells. To effectively manage infants with infantile hemangiomas, a clear understanding of the pathogenic pathways is important and can assist the healthcare provider with effective treatment. This understanding will facilitate a relationship of support with the families of affected infants. EBSCO host and Ovid database search for key words of infantile hemangiomas, propranolol, vascular lesion, and proliferative lesion was utilized. Articles on pathophysiology along with recent research studies were include in the search. The use of propranolol is a recent development in the treatment of infantile hemangiomas, which has shown a high rate of response in decreasing the size and reducing the potential for life-long complications. Different studies have shown the same success rate with the use of propranolol but with different variables. As a healthcare team member, better identification and customized care of these patients can reduce the rare but devastating complications of infantile hemangiomas. Future research can help identify the most effective dose and course of propranolol administration.

  1. Current concepts in the management of periocular infantile (capillary) hemangioma.

    PubMed

    Ni, Nina; Guo, Suqin; Langer, Paul

    2011-09-01

    To review and evaluate the medical literature on new treatments for periocular infantile (capillary) hemangioma. Recent studies have shown a promising new therapy for infantile hemangioma using nonselective β-blockers, including oral propranolol and topical timolol. Conventional treatments for infantile hemangioma include the use of corticosteroids, laser, surgery, and immunomodulator therapy. Recently, systemic and topical β-blockers have been used to successfully treat infantile hemangioma. The drugs' mechanism of action remains uncertain, but plausible theories include vasoconstriction, modulation of pro-survival signal transduction pathways, and endothelial cell apoptosis. Whereas no life-threatening adverse events from β-blocker treatment have been described, there have been reports of bradycardia, hypotension, bronchospasm, hypoglycemia, and electrolyte disturbances resulting from systemic use of propranolol to treat infantile hemangioma. Sleep and gastrointestinal disturbances have also been frequently reported. Topical timolol application for localized, superficial tumors may confer similar efficacy as oral propranolol while reducing systemic effects. Despite the recent explosion of interest surrounding this novel treatment, current treatment and protocol-monitoring recommendations are based largely on the experience of individual centers. Several randomized controlled studies are currently underway, the results of which will guide future standard-of-care treatment for infantile hemangioma.

  2. A genetic and biologic classification of infantile spasms

    PubMed Central

    Paciorkowski, Alex R.; Thio, Liu Lin; Dobyns, William B.

    2011-01-01

    Infantile spasms are an age-dependent epilepsy that are highly associated with cognitive impairment, autism, and movement disorders. Previous classification systems have focused on a distinction between symptomatic and cryptogenic etiologies, and have not kept pace with the recent discoveries of mutations in genes in key pathways of central nervous system development in patients with infantile spasms. Children with certain genetic syndromes are much more likely to have infantile spasms, and we review the literature to propose a genetic classification of these disorders. Children with these genetic associations with infantile spasms also have phenotypes beyond epilepsy that may be explained by recent advances in the understanding of underlying biological mechanisms. We therefore also propose a biologic classification of the genes highly associated with infantile spasms, and articulate models for infantile spasms pathogenesis based on that data. The two best described pathways of pathogenesis are abnormalities in the gene regulatory network of GABAergic forebrain development, and abnormalities in molecules expressed at the synapse. We intend for these genetic and biologic classifications to be flexible, and hope that they will encourage much needed progress in syndrome recognition, clinical genetic testing, and ultimately the development of new therapies that target specific pathways of pathogenesis. PMID:22114996

  3. [Propranolol therapy for periocular and orbital infantile haemangiomas].

    PubMed

    Sterker, I; Tegetmeyer, H; Sorge, I; Weißer, M; Böhm, R

    2014-10-01

    In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

  4. Extracutaneous infantile haemangioma is also Glut1 positive

    PubMed Central

    Drut, R M; Drut, R

    2004-01-01

    Aim: To investigate whether extracutaneous infantile haemangioma-like tumours are immunohistochemically similar to cutaneous infantile haemangiomas. Methods: Mammary, salivary gland, liver (one each), and placental (two cases) capillary haemangiomas and typical examples of cutaneous (eight cases) infantile haemangioma were investigated immunohistochemically for α smooth muscle actin and Glut1, a proposed marker for the skin localised lesion. Positive internal controls included red blood cells, perineurium, trophoblast, and endothelial cells of the placental capillaries. Extralesional vessel endothelium acted as a negative control (except in the placenta). The liver haemangioma and both chorioangiomas presented in patients with Beckwith-Wiedemann syndrome. Results: The endothelial cells of all the vascular lesions were Glut1 positive. These were consistently surrounded by a rim of α smooth muscle actin positive pericytic cells. Controls reacted appropriately. Conclusions: All infantile haemangiomas were immunohistochemically positive for Glut1: expression of this molecule was not limited to infantile haemangiomas of the skin. These tumours comprise proliferations of both endothelial and pericytic cells. The association with Beckwith-Wiedemann syndrome may provide a clue to the molecular genetics of infantile haemangioma. PMID:15509684

  5. Assessment of maternal knowledge about infantile colic in Saudi Arabia

    PubMed Central

    Al-Shehri, Hassan; Al-Mogheer, Bader H; Al-Sawyan, Talal H; Abualalaa, Abdulaziz Badr; Jarrah, Omar Ahmed; Jabari, Mosleh; Al-Faris, Abdullah

    2016-01-01

    Introduction The infantile colic is a difficult experience met by parents in the first few months of an infant’s life. This may lead to increased discomfort for infants as well as psychological distress for mothers. This study aimed at assessing the baseline knowledge of mothers in Saudi Arabia about infantile colic mainly in regard to the etiology and management. Methods In this cross-sectional study, a questionnaire was distributed among mothers in six primary healthcare centers (PHCC) in Riyadh, Saudi Arabia, during their visit for immunization clinics in 2016. The questionnaire consisted of two domains for determining the sociodemography characteristics and the maternal knowledge of participants about infantile colic. SPSS version 20 and chi-square test were used for data analysis. Results A total of 230 mothers completed the survey questionnaire. Of these, 208 participants were Saudis. The majority of the participants were in the age group of 18–29 years (42.6%). The average age of the infants in this study was found to be 5.75±4.26 months. Eighty percent replied that they did not have any previous knowledge of infantile colic; 42.6% mothers believed that the causes of infantile colic were unclear and might involve several factors; 36% of the participants perceived milk allergy as the attributing cause for infantile colic. The source of knowledge about infantile colic was mainly through experiences of dealing with previous siblings who have the same issue (34.4%); 27.4% of mothers prefer the use of herbal medicines to treat this condition. Conclusions It is recommended that health education needs to be provided to mothers at outpatient clinics during their antenatal hospital visits. This reduces the discomfort of infant and distress in mothers. PMID:28163842

  6. Non-infantile variant of desmoplastic ganglioglioma: Conventional and advanced MR imaging characteristics

    PubMed Central

    Ucar, Murat; Borcek, Alp O; Damar, Cagri; Oztunali, Cigdem; Gul Alimli, Ayse; Boyunaga, Oznur

    2015-01-01

    Desmoplastic infantile ganglioglioma is a paediatric brain tumor that is commonly seen in the infantile age group. Literature on the non-infantile variant of this low-grade supratentorial neoplasm is very scarce, except for a few case reports. Herein, we report a case of desmoplastic non-infantile ganglioglioma occurring at the age of 6 years and describe its conventional and advanced magnetic resonance imaging characteristics. PMID:26246092

  7. Non-infantile variant of desmoplastic ganglioglioma: Conventional and advanced MR imaging characteristics.

    PubMed

    Derinkuyu, Betul E; Ucar, Murat; Borcek, Alp O; Damar, Cagri; Oztunali, Cigdem; Gul Alimli, Ayse; Boyunaga, Oznur

    2015-06-01

    Desmoplastic infantile ganglioglioma is a paediatric brain tumor that is commonly seen in the infantile age group. Literature on the non-infantile variant of this low-grade supratentorial neoplasm is very scarce, except for a few case reports. Herein, we report a case of desmoplastic non-infantile ganglioglioma occurring at the age of 6 years and describe its conventional and advanced magnetic resonance imaging characteristics. © The Author(s) 2015.

  8. Propranolol in the management of periorbital infantile haemangioma.

    PubMed

    Cheng, Jin Fong; Gole, Glen A; Sullivan, Timothy J

    2010-08-01

    Infantile haemangiomas are the commonest tumours of the orbit in children. Treatment is usually expectant, unless they are visually threatening. Although steroids, other pharmacological and surgical treatment modalities have their place, there are risks involved. A previous case series reported the successful use of propranolol for infantile haemangioma. The safety and efficacy of propranolol in the treatment of periorbital haemangioma was reviewed in a serious of our patients. We performed a retrospective review of patients seen by two ophthalmologists (TJS and GAG), collecting data on colour, size of lesion, duration of treatment and side-effects of treatment. Our main outcome measures were colour and size of infantile haemangioma before and after treatment, the change in astigmatism of our patients and the incidence of complications from propranolol. We reviewed 10 patients with infantile haemangioma. They were treated with propranolol oral syrup 2 mg/kg/day in divided doses for a mean duration of 32.8 (range 12-42) weeks. All our patients had a reduction in colour and size of the lesions. The mean lesion size decreased from 756.7 to 543.2 mm(2) after treatment (P = 0.075). Five patients had significant astigmatism and 60% had successful reduction of astigmatism after treatment. None of our patients suffered significant side-effects of propranolol. Propranolol appears to be a safe and effective treatment in the management of infantile haemangioma.

  9. Diagnosing infantile anorexia: the observation of mother-infant interactions.

    PubMed

    Chatoor, I; Hirsch, R; Ganiban, J; Persinger, M; Hamburger, E

    1998-09-01

    This study has three objectives: (1) to delineate the diagnostic criteria for infantile anorexia, including the onset of persistent food refusal during the infant's transition to spoon- and self-feeding, acute and/or chronic malnutrition, parental concern about the infant's poor food intake, and mother-infant conflict, talk, and distraction during feeding; (2) to determine the interrater agreement of child psychiatrists when diagnosing infantile anorexia based on these criteria; and (3) to describe the use of the Feeding Scale as a diagnostic tool. One hundred two toddlers, ranging in age from 12 to 37 months, were assessed by two child psychiatrists and assigned the diagnosis of infantile anorexia, picky eater, or good eater. In addition, observers who were masked to the toddler's diagnosis rated mother-infant interactions with the Feeding Scale to permit objective evaluation of those interactions. Two child psychiatrists were able to assign toddlers to infantile anorexia, picky eating, and healthy, good eating groups with a high level of agreement. The objective scale for rating mother-infant interactions showed a high level of agreement between two masked raters and a good level of agreement between masked raters and the child psychiatrists' diagnostic assessment. Infantile anorexia can be diagnosed with high reliability by child psychiatrists. Evaluation of mother-infant interactions is a useful diagnostic tool.

  10. Congenitally Impaired Disparity Vergence in Children With Infantile Esotropia

    PubMed Central

    Kelly, Krista R.; Felius, Joost; Ramachandran, Santoshi; John, Blesson A.; Jost, Reed M.; Birch, Eileen E.

    2016-01-01

    Purpose We examined whether congenital impairment of disparity vergence in infantile esotropia (ET) exists in children with short duration ET (≤3 months) compared with long-duration ET and healthy controls. A short duration of misalignment would allow for a substantial amount of balanced binocular input during the critical period of binocular disparity development. Methods A total of 19 children aged 5 to 12 years and treated for infantile ET with a short (≤3 months; n = 10) or long (≥5 months; n = 9) duration of constant misalignment before alignment were enrolled. A total of 22 healthy control children were enrolled as a comparison group. Eye movements during disparity vergence and accommodative vergence were recorded using an EyeLink 1000 binocular eye tracker. Mean response gain was compared between and within groups to determine the effect of duration of misalignment and viewing condition. Results Compared with controls, children with short (P = 0.002) and long (P < 0.001) duration infantile ET had reduced response gains for disparity vergence, but not for accommodative vergence (P = 0.19). Conclusions Regardless of duration of misalignment, children with infantile ET had reduced disparity vergence, consistent with a congenital impairment of disparity vergence in infantile ET. Although early correction of misalignment increases the likelihood that some level of binocular disparity sensitivity will be present, normal levels may never be achieved. PMID:27159445

  11. Monitoring propranolol treatment in periocular infantile haemangioma.

    PubMed

    Burne, R; Taylor, R

    2014-11-01

    To develop a tool for assessing amblyopic risk and monitoring the treatment effect of propranolol in periocular haemangioma management. We present a study of nine children with periocular haemangioma who underwent propranolol treatment at York Hospital between 2009 and 2013.A proposed measure of amblyogenic risk based on the induced anisometropia resulting from a periocular haemangioma was calculated in the form of a single quantitative value, measured in dioptres. This calculation used published work and developed it to produce a new function, termed the delta defocus equivalent (DFE-∂).Refraction measurements were retrospectively collected from patients' notes in order to measure the trend of DFE-∂ over the treatment period with propranolol. The average DFE-∂ at commencement of propranolol was 1.54 (±0.62) D. The average at the end of treatment was 0.39 (±0.38) D. This work presents a possible tool for assessing amblyopic risk in cases of periocular infantile haemangioma. The DFE-∂ gives a measure in dioptres, which may represent the true amblyopic risk, and so be useful in supporting treatment decisions in paediatric ophthalmology.

  12. When to stop propranolol for infantile hemangioma

    PubMed Central

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-01-01

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH. PMID:28225076

  13. [Infantile colic--what will help?].

    PubMed

    Matheson, I

    1995-08-20

    Infantile colic occurs in 1/3 of all infants and is still a medical mystery. This paper reviews the etiology and the documented therapies. The overall aim is to avoid that inefficient forms of medication are used for this indication. It is not yet known whether colic is a dysfunction related to physical pain or behaviour. The results from 885 infants born in Oslo suggested that colic was frequent among those whose mothers both breastfed them and smoked more than five cigarettes daily. No increase in relative risk was found for other maternal or demographic factors. Since it is impossible to treat the causes parents should be advised to try general and specific strategies. General advice includes support, interest and care from health personnel and assistance from relatives. Specifically, some infants respond to either dietary changes (no cow's milk), oral sucrose infusion, vibro-accustic treatment, behavioural therapy or carrying, but avoiding hyperstimulation. Nicotine-free breast milk has not been evaluated. The available pharmacotherapy is not efficacious. Alternative medicine (herbal teas, chiropractic, acupuncture), has not yet been proven to be efficacious.

  14. Propranolol in infantile haemangioma: simplifying pretreatment monitoring.

    PubMed

    El Ezzi, Oumama; Hohlfeld, Judith; de Buys Roessingh, Anthony

    2014-03-07

    Infantile haemangiomas (IHs) are very common vascular tumours. Propranolol is at present the first-line treatment for problematic and complicated haemangioma. In accordance with a Swiss protocol, children are monitored for 2 days at the start of the treatment to detect possible side effects of this drug. Our study advocates a simplification of the pretreatment monitoring process. All children with a problematic and complicated haemangioma treated with propranolol between September 2009 and September 2012 were included in the study. All patients were hospitalised under constant nurse supervision for 48 hours at the start of the treatment and subjected to cardiac and blood measurements. The dosage of propranolol was 1 mg/kg/day on the first day and 2 mg/kg/day from the second day. Demographic data, clinical features, treatment outcome and complications were analysed. Twenty-nine infants were included in our study. Of these, 86.2% responded immediately to the treatment. There were no severe adverse reactions. Six patients presented transient side effects such as bradycardia, hypotension after the first dose and hypoglycaemia later. No side effects occurred after the second dose. Treatment was never interrupted. Propranolol (a β-blocker) is a safe treatment for problematic IH. Side effects may occur after the first dose. A strict 48 hour monitoring in hospital is expensive and may be unnecessary as long as the contraindications for the drug are respected.

  15. When to stop propranolol for infantile hemangioma.

    PubMed

    Chang, Lei; Gu, Yifei; Yu, Zhang; Ying, Hanru; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Lin, Xiaoxi

    2017-02-22

    There is no definitive conclusion regarding the optimal timing for terminating propranolol treatment for infantile hemangioma (IH). A total of 149 patients who underwent detailed color Doppler ultrasound examination were included in this study. The characteristics and propranolol treatment of all patients were summarized and analyzed. Patients were divided into two groups according to the lesion regression rate. Among the 149 patients, 38 were assigned to the complete regression group, and 111 were assigned to the partial regression group. The age at which propranolol treatment started, duration of follow-up after treatment discontinuation and rate of adverse events were not significantly different between the two groups. The duration of oral propranolol treatment was shorter in the complete regression group. The age at which propranolol was terminated was younger in the complete regression group, and this group had a lower recurrence rate. Propranolol is safe and effective for the treatment of IHs that require intervention, but it should be stopped at an appropriate time, which is determined primarily by the lesion regression rate after propranolol treatment. Ultrasound is helpful in determining when to stop propranolol for IH.

  16. [Infantile anorexia: from birth to childhood].

    PubMed

    Poinso, F; Viellard, M; Dafonseca, D; Sarles, J

    2006-05-01

    Young child's anorexia (0-4 years) may have organic or psychological origin, when parents-child relationships are concerned. The most complex and earliest forms often have unspecified aetiology. Psychopathological classifications, which emphasize the mother-child relationships, are essential reference marks. But there is now a consensus in the definitions: the diagnosis of infantile anorexia requires criteria of acute or chronic malnutrition. We mainly distinguish anorexia by early disorder of homeostasis, anorexia resulting from serious disorder of attachment, anorexia by disorder of mother-child interactions, and finally early and complex anorexia, mixing an organic vulnerability and a bonding trouble, which can be secondary. Treatments differ according to the selected aetiology. Even if the origin is not mainly the fact of a relational mother-child dysfunction, parents-child's relations require a support to avoid aggravation by interactive vicious circles (force feeding). More than other diseases of early childhood, feeding disorders require a good knowledge of the working hypotheses both in the field of the paediatrics and the child psychiatry.

  17. Malassezia furfur in infantile seborrheic dermatitis.

    PubMed

    Wananukul, Siriwan; Chindamporn, Ariya; Yumyourn, Poomjit; Payungporn, Sunchai; Samathi, Chanchuree; Poovorawan, Yong

    2005-01-01

    Our objective was to study both incidence and various strains of Malassezia in infantile seborrheic dermatitis (ISD). Sixty infants between 2 weeks and 2 years old with clinical diagnosis of ISD at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from May 2002 to April 2003 were recruited. Malassezia spp. were isolated from cultured skin samples of the patients, genomic DNA was extracted and the ITS1 rDNA region was amplified. The PCR product was examined by agarose gel electrophoresis and DNA sequences were determined. The ITS1 sequences were also subjected to phylogenetic analysis and species identification. ISD is most commonly found in infants below the age of 2 months (64%), followed by those between 2 and 4 months (28%) old. Cultures yielded yeast-like colonies in 15 specimens. PCR yielded 200-bp products (Candida) in 3 patients and 300-bp products (Malassezia furfur) in 12 patients (18%). Sugar fermentation using API 20C aux performed on the three 200-bp PCR products yielded Candida species. M. furfur was the only Malassezia recovered from skin scrapings of children with ISD.

  18. Infantile amnesia: forgotten but not gone.

    PubMed

    Li, Stella; Callaghan, Bridget L; Richardson, Rick

    2014-02-14

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life experiences on later physical, mental, and emotional functioning. This raises the question of how early memories can be so influential if they cannot be recalled. This review presents one potential solution to this paradox by considering what happens to an early memory after it has been forgotten. Specifically, we describe evidence showing that these forgotten early-acquired memories have not permanently decayed from storage. Instead, there appears to be a memory "trace" that persists in the face of forgetting which continues to affect a variety of behavioral responses later in life. Excitingly, the discovery of this physical trace will allow us to explore previously untestable issues in new ways, from whether forgetting is due to a failure in retrieval or storage to how memories can be recovered after extended periods of time. A greater understanding of the characteristics of this memory trace will provide novel insights into how some memories are left behind in childhood while others are carried with us, at least in some form, for a lifetime.

  19. Latest American and European updates on infantile spasms.

    PubMed

    Lux, Andrew L

    2013-03-01

    Infantile spasms remain a challenging condition to study and treat, and although they form the commonest epilepsy syndrome with onset in infancy, the challenge is broadened by the wide range of potential underlying causes. The field of study remains dynamic, with debates relating to case definitions and organising structures for classification of seizures and epilepsies in general, and a newly proposed genetic and biologic classification specifically for infantile spasms. There have been recent consensus statements, a Delphi process eliciting prioritised quality-of-care indicators, systematic reviews of treatment, and a survey of clinical practice in the USA. There is increasing evidence that longer duration of spasms is associated with poorer neurodevelopmental outcomes. It has taken many years to develop an animal model that reasonably represents infantile spasms, but there are now several animal models, and they are leading to innovative and valuable studies that suggest novel treatments.

  20. A case of infantile neuroaxonal dystrophy of neonatal onset.

    PubMed

    Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara

    2015-03-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA2-VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy-affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype. © The Author(s) 2014.

  1. [Rapid regression of infantile haemangioma with 2% propranolol ointment].

    PubMed

    Mouhari-Toure, A; Azoumah, K-D; Tchamdja, K; Saka, B; Kombaté, K; Tchangaï-Walla, K; Pitche, P

    2013-01-01

    Oral propranolol produces dramatic results in severe infantile haemangioma. We report a case of rapid and significant regression of an infantile haemangioma in infant treated topically with 2% propranolol ointment. A female infant aged 11 weeks was seen as an outpatient for two infantile haemangiomas on the front of the left knee and the vulva. After parental consent was given, the child was treated with a topical preparation of 2% propranolol ointment prepared by the pharmacy. Regression was rapid and on the 45th day, lesion size had been reduced by an estimated 75%. No adverse effects were observed. Topical propranolol appears to be effective and safe for the treatment of superficial haemangiomas. Clinical trials are required to determine the optimal dosage and pharmaceutical form, method of use and treatment duration. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  2. Biomarkers: important clues to the pathogenesis of infantile haemangioma and their clinical significance.

    PubMed

    Jia, Jun; Zhao, Yi Fang

    2010-01-01

    Infantile haemangioma is the most common tumour of infancy, yet the pathogensis of this lesion remains unknown and the predictable life cycle is poorly understood. Though much new information on infantile haemangioma has emerged over the past decade, researchers continue to debate the fundamental features; including cells of origin, nonrandom distribution, and mechanisms regulating the sometimes explosive growth and slow involution. The development of biomarkers has shed light on the pathogenesis and management of infantile haemangioma. Several useful biomarkers and their suggestions as to the aetiology of infantile haemangioma are reviewed. In addition, the application in clinical diagnosis and choice of treatment methods of infantile haemangioma is summarised.

  3. Infantile hemiplegia in pediatric dental set-up

    PubMed Central

    Syed, Ghousia; Benni, Deepa; Naik, Saraswathi V; Surendra, Poornima

    2012-01-01

    Infantile hemiplegia refers to brain injuries that occur before or at birth and lead to hemiplegia/ total paralysis of one side of the body, including the face, arm and leg. The main purpose of this article is to provide valuable information to pediatric dentists about the review and treatment alternatives for patients with infantile hemiplegia. This article reports the case of a 12-year-old girl with a hemiplegia of left side of the body suffering with tooth ache and gum inflammation. The treatment performed was rehabilitation with oral prophylaxis and extractions of root stumps followed by thorough preventive regimen with periodic check-ups. PMID:23559936

  4. Effect of captopril on infantile haemangiomas: a retrospective case series.

    PubMed

    Christou, Elizabeth M; Wargon, Orli

    2012-08-01

    The mechanism of action of beta adrenergic blockers in the involution of infantile haemangioma (IH) remains unclear. It has been proposed that the renin-angiotensin pathway may play a role. We present a retrospective case series of 17 patients with IH who were treated with oral corticosteroid therapy and developed hypertension requiring treatment with the angiotensin converting enzyme inhibitor, captopril. All patients, with written documentation, demonstrated an improvement in their lesion at the start of oral corticosteroid therapy (n = 14). Captopril alone did not sustain the corticosteroid-induced involution with a documented worsening of infantile haemangioma in seven out of 12 patients (58%).

  5. The effects of Bleomycin A5 on infantile maxillofacial haemangioma

    PubMed Central

    2011-01-01

    Objective To examine the effects of bleomycin A5 on infantile maxillofacial haemangiomas. Methods Bleomycin A5 was given by multiple intralesinoal injections and the dosage was given according to the age of the patient and size of the lesion. Parts of patients were accompanied by prednisone treatment(2-5 mg/kg, po, QOD. Results All the haemangiomas involuted completely after treated with bloemycin A5 with better recovery of skin color and less scar forming in small haemangiomas. Conclusion Infantile haemangioma could be effectively treated with bleomycin A5 without serious side effects. PMID:21736714

  6. Infantile digital fibromatosis: our experience and long-term results.

    PubMed

    Spingardi, O; Zoccolan, A; Venturino, E

    2011-02-01

    Infantile fibromatosis is an uncommon benign proliferation of myofibroblasts in the dermal tissue on the digits and toes with a marked tendency for recurrence. Inclusion bodies in the cytoplasm of neoplastic fibroblasts are a characteristic histologic feature of this condition. The tumor may often resolve spontaneously. There is very little written in the literature on this subject, with only a few or isolated cases having been described. We report our experience of seven cases of recurrent infantile fibromatosis that underwent surgical treatment. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  7. Nasal tip infantile hemangioma, a case of mistaken identity.

    PubMed

    Gaines, Sara A; Blum, Craig; Chiu, Ernest S

    2013-01-01

    Infantile hemangioma is the most common vascular tumor in the pediatric population, and the majority of cases are diagnosed only on history and physical examination. This report highlights a case in which a 3-year-old girl undergoes surgical removal of what was thought to be an infantile hemangioma. Immunohistochemical staining, however, showed the absence of GLUT-1 marker, which discredited the original diagnosis. The vascular tumor was found to be a unique presentation of a pyogenic granuloma. When the clinical diagnosis is in question, referral for biopsy may prevent unnecessary medical interventions.

  8. Characterisation of lymphocyte subpopulations in infantile haemangioma.

    PubMed

    Tan, Elysia M S; Itinteang, Tinte; Chudakova, Daria A; Dunne, Jonathan C; Marsh, Reginald; Brasch, Helen D; Davis, Paul F; Tan, Swee T

    2015-10-01

    Interstitial CD45+ cells and T lymphocytes have previously been demonstrated within infantile haemangioma (IH). This study investigated the expression of B and T lymphocyte markers by the CD45+ population, and the expression of Thy-1, a marker of thymocyte progenitors, which have the ability to give rise to both B and T cells. Immunohistochemical (IHC) staining was performed on proliferating and involuted IHs for the expression of CD45, CD3, CD20, CD79a, Thy-1 and CD34. The presence of mRNA corresponding to CD45, CD3G, CD20 and Thy-1 was confirmed by reverse transcriptase-polymerase chain reaction in snap-frozen IH tissues. Cell counting of 3,3-diaminobenzidine IHC-stained slides was performed on CD45+ only cells and dually stained CD45+/CD3+ cells or CD45+/CD20+ cells and analysed statistically. In situ hybridisation and mass spectrometry were also performed to confirm the presence and abundance of Thy-1, respectively. IHC staining showed a subpopulation of CD45+ interstitial cells that expressed the T lymphocyte marker, CD3, and another subpopulation that expressed the B lymphocyte marker, CD20, in proliferating and diminished in involuted IHs. The abundant expression of Thy-1 on the endothelium of proliferating, but not involuted IH, was demonstrated by IHC staining and confirmed by in situ hybridisation and mass spectrometry. Both B and T lymphocytes are present within the interstitium of proliferating and involuted IH. The expression of Thy-1 by the endothelium suggests that B and T cells in IH may have originated from within the lesion, rather than migrating from the peripheral circulation. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  9. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

    Fasth, Anders L.; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M.; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M.; Boulad, Farid; Lund, Troy; Buchbinder, David K.; Kapoor, Neena; O’Brien, Tracey A.; Perez, Miguel A. Diaz; Veys, Paul A.; Eapen, Mary

    2015-01-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  10. Reading strategies in infantile nystagmus syndrome.

    PubMed

    Thomas, Mervyn G; Gottlob, Irene; McLean, Rebecca J; Maconachie, Gail; Kumar, Anil; Proudlock, Frank A

    2011-10-17

    The adaptive strategies adopted by individuals with infantile nystagmus syndrome (INS) during reading are not clearly understood. Eye movement recordings were used to identify ocular motor strategies used by patients with INS during reading. Eye movements were recorded at 500 Hz in 25 volunteers with INS and 7 controls when reading paragraphs of text centered at horizontal gaze angles of -20°, -10°, 0°, 10°, and 20°. At each location, reading speeds were measured, along with logMAR visual acuity and nystagmus during gaze-holding. Adaptive strategies were identified from slow and quick-phase patterns in the nystagmus waveform. Median reading speeds were 204.3 words per minute in individuals with INS and 273.6 words per minute in controls. Adaptive strategies included (1) suppression of corrective quick phases allowing involuntary slow phases to achieve the desired goal, (2) voluntarily changing the character of the involuntary slow phases using quick phases, and (3) correction of involuntary slow phases using quick phases. Several individuals with INS read more rapidly than healthy control volunteers. These findings demonstrate that volunteers with INS learn to manipulate their nystagmus using a range of strategies to acquire visual information from the text. These strategies include taking advantage of the stereotypical and periodic nature of involuntary eye movements to allow the involuntary eye movements to achieve the desired goal. The versatility of these adaptations yields reading speeds in those with nystagmus that are often much better than might be expected, given the degree of foveal and ocular motor deficits.

  11. Infantile tibia vara: correction of recurrent varus deformity following epiphyseolysis.

    PubMed

    Gary, Joshua; Richards, B Stephens

    2008-05-01

    Infantile tibia vara (infantile Blount's disease) is a condition in which progressive varus of the knee develops due to diminished physeal growth of the medial aspect of the proximal tibia. A 6-year-old boy with severe bilateral infantile tibia vara (Langenskiold stage V) underwent operative correction of his deformities. Surgery consisted of epiphyseolyses of the medial proximal tibiae and valgus-producing corrective tibial osteotomies. Nearly 5 years after symmetric growth, he again developed progressive varus involving his left knee. Usually, a repeat proximal tibial osteotomy is required along with consideration for completion of epiphyseodesis. In this case report, a simpler approach using staples was taken to successfully regain correction in a patient with recurrent deformity who was treated previously by a combination of epiphyseolysis and proximal tibial osteotomy. Stapling of the lateral aspect of the physis allowed the limited remaining growth potential within the abnormal medial physeal region to correct the angular deformity. A small overcorrection into valgus corrected after subsequent removal of the staple. At 14 years, with clinical and radiologic alignment normal, bilateral proximal tibial epiphysiodeses were performed. The patient returned to playing football at a high school level and had no functional limitations. To our knowledge, this is the first report of growth modulation (physeal stapling) resulting in successful correction of recurring genu varum in a knee that had previously undergone epiphyseolysis of the medial proximal tibial physis in advanced infantile tibia vara.

  12. Infantile Autism and the Temporal Lobe of the Brain.

    ERIC Educational Resources Information Center

    Hetzler, Bruce E.; Griffin, Judith L.

    1981-01-01

    Studies are reviewed that support the hypothesis that infantile autism results from a neuropathology of the temporal lobes of the brain. It is concluded that the main autistic symptoms are most consistent with a neurological model involving bilateral dysfunction of the temporal lobes. (Author)

  13. [Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

    PubMed

    Yilmaz, L; Dangoisse, C; Semaille, P

    2013-01-01

    Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH.

  14. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  15. Infantile colic: maternal smoking as potential risk factor

    PubMed Central

    Reijneveld, S.; Brugman, E.; Hirasing, R.

    2000-01-01

    The association of maternal smoking and type of feeding with colic was assessed in 3345 children aged 1-6 months (96% response). The prevalence of colic was twofold higher among infants of smoking mothers, but less among breastfed infants. Maternal smoking as a potential risk factor for infantile crying needs further study.

 PMID:10999861

  16. Infantile Autism and the Temporal Lobe of the Brain.

    ERIC Educational Resources Information Center

    Hetzler, Bruce E.; Griffin, Judith L.

    1981-01-01

    Studies are reviewed that support the hypothesis that infantile autism results from a neuropathology of the temporal lobes of the brain. It is concluded that the main autistic symptoms are most consistent with a neurological model involving bilateral dysfunction of the temporal lobes. (Author)

  17. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  18. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  19. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  20. Infantile amnesia reflects a developmental critical period for hippocampal learning.

    PubMed

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S; Blitzer, Robert D; Alberini, Cristina M

    2016-09-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as 'infantile amnesia'. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary and occurs through mechanisms typical of developmental critical periods, including the expression switch of the NMDA receptor subunits from 2B to 2A, which is dependent on brain-derived neurotrophic factor (BDNF) and metabotropic glutamate receptor 5 (mGluR5). Activating BDNF or mGluR5 after training rescues the infantile amnesia. Thus, early episodic memories are not lost but remain stored long term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent.

  1. Possible association of Kingella kingae with infantile spondylodiscitis.

    PubMed

    Ceroni, Dimitri; Belaieff, Wilson; Kanavaki, Akatarina; Della Llana, Rebecca Anderson; Lascombes, Pierre; Dubois-Ferriere, Victor; Dayer, Romain

    2013-11-01

    The course of the spondylodiscitis' infantile form is characterized by a mild-to-moderate clinical and biologic inflammatory response. Unfortunately, blood and disk/vertebral aspiration cultures show a high percentage of negative results. However, detecting Kingella kingae DNA in the oropharynx provided reasonable suspicion, to our opinion, that this microorganism is responsible for the spondylodiscitis.

  2. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  3. Infantile amnesia reflects a developmental critical period for hippocampal learning

    PubMed Central

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S.; Blitzer, Robert D.; Alberini, Cristina M.

    2016-01-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as infantile amnesia. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary, and occurs through mechanisms typical of developmental critical periods, including brain-derived-neurotrophic-factor (BDNF)- and metabotropic-glutamate-receptor-5 (mGluR5)-dependent expression switch of the N-methyl-D-aspartate receptor subunits 2B-2A. BDNF or mGlur5 activation after training rescues the infantile amnesia. Thus, early episodic memories are not lost, but remain stored long-term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent. PMID:27428652

  4. Experience with Holter monitoring during propranolol therapy for infantile hemangiomas.

    PubMed

    Jacks, Stephanie K; Kertesz, Naomi J; Witman, Patricia M; Fernandez Faith, Esteban

    2015-08-01

    Although adverse events in children treated with propranolol have proven rare, the appropriate methods of assessing cardiovascular risk and monitoring for toxicity when the medication is used for infantile hemangiomas remain unclear. We sought to analyze Holter monitor reports of otherwise healthy patients on propranolol for infantile hemangiomas to determine the incidence of sustained arrhythmias and to evaluate the utility of Holter monitoring in the outpatient setting. We retrospectively reviewed the charts of patients with infantile hemangioma who underwent 24-hour Holter monitoring after initiation or dose escalation of propranolol between 2011 and 2014. In all, 43 patients aged 1.8 to 36.2 months, with 44 Holter monitor reports, were included in the study. No sustained arrhythmias were revealed. The treatment plan was not altered in any patient based on the Holter monitor report. This was a retrospective study design. Our study suggests that Holter monitoring may be unnecessary in otherwise healthy patients with infantile hemangioma older than 12 weeks who are treated with propranolol in the outpatient setting. Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  5. Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

    PubMed

    Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

    2011-01-01

    Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.

  6. [Keeping dogs indoor aggravates infantile atopic dermatitis].

    PubMed

    Endo, K; Hizawa, T; Fukuzumi, T; Kataoka, Y

    1999-12-01

    We had a two-month-old girl with severe dermatitis since birth. Her serum RAST to HD, Df and Dp were 1.06, 0.03 and 0.01 Ua/ml respectively. A Yorkshire terrier were kept at her mother's parents' home where the patient had lived for a month since birth. Her eczema, which became markedly aggravated whenever she visited there, improved after the elimination of the dog. We investigated the relationship between keeping dogs and infantile atopic dermatitis. We studied 368 patients under the age of two years (211 boys and 157 girls). Skin symptoms were graded globally mild, moderate or severe. Total serum IgE and specific antibody titer to dog dander were measured. We asked them whether they kept dogs and specifically, where they kept dogs, outdoor, indoor, in their own house, or in their grandparents' house. 197 patients had no contact with dogs, 90 patients kept dogs outdoor and 81 patients did indoor. The positive rate of RAST (> or = 0.7 Ua/ml) to dog dander was 6.1%, 17.8% and 46.9% respectively in these three groups. There were strong statistical differences between three groups. On the other hand, among the 81 patients who kept indoor, the RAST positive rates were almost same regarding where the dogs were kept, in their own house or their grandparents' house. Interestingly this difference happens only with patients under the age of 3 months. Patients older than 4 months showed no significant differences in the positive RAST rates, whether they kept dogs indoor or outdoor. This suggests the sensitization occurs before the age of 3 months. Speaking of symptoms, patients who kept dogs indoor showed significantly more severe symptoms than patients who had no contact with dogs and patients who kept dogs outdoor. There was no significant difference between the symptoms of patients who had no contact with dogs and those of patients who kept dogs outdoor. This implies the patient's symptom will improve only by moving the dog out of the house.

  7. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  8. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  9. [Alterations in two enzymes: superoxide dismutase and glutathion peroxidase in developmental infantile psychosis (infantile autism) (author's transl)].

    PubMed

    Golse, B; Debray-Ritzen, P; Durosay, P; Puget, K; Michelson, A M

    1978-11-01

    After they gave a classification of the different circumstances under which the infantile autism can exist, the authors expose the data of their researches on the intermediate metabolism of oxygen of those children. Superoxyde dismutase I and glutathion peroxydase activities seem to be abnormal in the erythrocytes whereas only superoxyde dismutase I activity appears to be abnormal in the platelets.

  10. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

    PubMed Central

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-01-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma. PMID:27468364

  11. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  12. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.

  13. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis

    PubMed Central

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-01-01

    Abstract Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment. PMID:26448016

  14. A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease.

    PubMed

    Chow, Gabriel; Padfield, C James H

    2008-04-01

    We present a male stillbirth with infantile neuroaxonal dystrophy (connatal Seitelberger disease). Following the development of polyhydramnios with an ultrasound scan showing severe distal arthrogryposis, the mother was induced at 38 weeks. A moderately macerated severely intrauterine growth restricted male stillbirth was delivered. External microcephaly, sloping forehead, simplified palmar skin creases, fixed flexion deformities of the knees, severe talipes equinovarus, spinal scoliosis, and empty scrotum were present. The brain was microcephalic with normal gyration, having a hypoplastic corpus callosum, thinned insular cortex, and enlarged lateral ventricles. There was a progressive increase in axonal spheroids going in a rostrocaudal direction in the central nervous system with the preferential distal denervation of muscles, with their motor nerves showing axonal spheroids. The presence of axonal spheroids in both the central and peripheral nervous systems and electron microscopic appearances were diagnostic of infantile neuroaxonal dystrophy occurring in utero.

  15. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

  16. Long-term outcome in pyridoxine-responsive infantile epilepsy.

    PubMed

    Riikonen, R; Mankinen, K; Gaily, E

    2015-11-01

    Dose regimens of pyridoxine (vitamin B6) for treatment of infantile spasms have varied from 200 mg/d to 300 mg/kg/d. Only two long-term outcome studies of the treated patients are available. We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy. Five children with infantile spasms and hypsarrhythmia and one with focal epilepsy were reported as pyridoxine responders. Data on clinical presentation and outcome were collected from patient charts. All B6 responders had un-known aetiology. Two patients were studied for pyridoxal 5'-phosphate oxidase (PNPO) deficiency and showed negative results. Ages at seizure onset ranged from 4 to 7 months. The maintenance dose of oral pyridoxine was 150 mg/day. Response occurred within 1-to 14 days (mean 5 days). Two patients were treated with concomitant antiepileptic drugs. Duration of pyridoxine therapy varied from 6 weeks to 4 years (mean 26 months). Four patients had later seizure recurrence: one at 15 months with motor seizures (stopped by valproate), another two in adolescence with focal epilepsy and one at 20 years with unclassified epilepsy. Intelligence was normal in five patients and one had a mild mental deficiency. Follow-up ranged from 8.5 to 24 years. Rare patients with infantile epilepsy but not pyridoxine dependency may respond to smaller doses of pyridoxine than reported before. Long-term cognitive outcome appears to be good but late seizure recurrence (in adolescence or in adulthood) occur. So far it is unknown if the response was determined by genetic traits or disease-related factors. Copyright © 2015. Published by Elsevier Ltd.

  17. Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy.

    PubMed

    Sener, R Nuri

    2003-01-01

    A 7-month-old girl with infantile neuroaxonal dystrophy is reported. In diffusion MRI, the pyramidal tracts and dentate nuclei had high signal on b = 1,000 s/mm2 images and low apparent diffusion coefficient (ADC) values. This pattern likely reflected the presence of abnormal (dystrophic) axons with restricted mobility of water molecules. A reverse pattern was evident in the cerebellar cortex with high ADC values. This was likely a reflection of dysmyelination or lack of myelination.

  18. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  19. Infantile acne: a retrospective study of 16 cases.

    PubMed

    Hello, Muriel; Prey, Sorilla; Léauté-Labrèze, Christine; Khammari, Amir; Dreno, Brigitte; Stalder, Jean-François; Barbarot, Sébastien

    2008-01-01

    Infantile acne is a rare and poorly understood disorder. The objective of this study was to improve our knowledge about the epidemiology and clinical course of infantile acne, and evaluate approaches to treatment. This two-center retrospective study covered the period between 1985 and 2007. Inclusion criteria were: (i) age less than 24 months when lesions appeared; (ii) presence of both inflammatory and noninflammatory lesions; (iii) persistence of lesions for at least 2 months. The data were drawn from clinical and photographic records, followed by administration of a telephone questionnaire to parents. It was proposed that each case be reviewed on the basis of the child's appearance and score on an acne scar clinical grading scale. Sixteen children were included. Nine had a family history of severe adolescent acne. The average duration of disease was 22 months. Two patients had been effectively treated with oral isotretinoin. More than half of the patients exhibited scars. We re-examined five children (average acne scar clinical grading scale score = 12/540). On the basis of the frequency of scarring, and the severity and average duration of lesions, the use of oral retinoids in severe infantile acne warrants evaluation.

  20. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  1. Stereoacuity Outcomes Following Treatment of Infantile and Accommodative Esotropia

    PubMed Central

    Birch, Eileen E.; Wang, Jingyun

    2009-01-01

    Purpose To review what is known about the normal maturation of stereoacuity, the stereoacuity deficits associated with infantile and accommodative esotropia, the rationale for making improved stereoacuity a goal of treatment, and strategies for improving stereoacuity outcomes. Methods Studies of stereoacuity maturation during normal development, studies of stereoacuity outcomes following treatment for infantile and accommodative esotropia, and studies of primate models of esotropia are reviewed. Results Stereoacuity maturation normally proceeds rapidly during the first year of life. Infantile and accommodative esotropia are associated with profound and permanent disruption of stereopsis. While rehabilitation of stereoacuity following treatment of esotropia remains a challenge, even the achievement of subnormal stereoacuity may have real benefits to the child. Conclusions Some abnormalities in stereoacuity may exist before the onset of esotropia, but others may result directly from abnormal binocular experience. Several strategies for improving stereoacuity outcomes in esotropia are currently under active investigation. Improved stereoacuity outcomes are associated with better long term stability of alignment, reduced risk for and/or severity of amblyopia, improved achievement of sensorimotor developmental milestones, better reading ability, and improved long-term quality of life. PMID:19390468

  2. Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

    PubMed

    Carrilho, Inês; Santos, Manuela; Guimarães, António; Teixeira, João; Chorão, Rui; Martins, Márcia; Dias, Cristina; Gregory, Allison; Westaway, Shawn; Nguyen, Thuy; Hayflick, Susan; Barbot, Clara

    2008-11-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first 2 years of life. Mutations in the PLA2G6 gene were identified in patients with infantile neuroaxonal dystrophy. Our purpose was to review clinical, neurophysiologic, neuroradiologic and neuropathological features of our patients in order to identify the earliest signs of disease. We also correlate these data with the genotype in the mutation positive patients. We reviewed the clinical reports, neurophysiologic and neuropathological studies and brain imaging of our patients. In five patients molecular analysis of the PLA2G6 gene was performed. We report 10 patients with infantile neuroaxonal dystrophy. Earliest symptoms presented between 6 and 18 months of age. The first manifestations were arrest in the acquisition of milestones or regression. The first neurological signs were generalized hypotonia and pyramidal signs. Fast rhythms on EEG were observed in all patients. Brain imaging studies showed cerebellar atrophy in all patients, with signal hyperintensity in the cerebellar cortex on T2-weighted images in five. All cases had characteristic axonal spheroids on skin biopsy. Mutations in the PLA2G6 gene were identified in the five patients studied. Three of them had the same homozygous mutations 2370T> G, Y790X. Though mutations were detected in the patients studied, a clear genotype-phenotype correlation could not be ascertained. In the appropriate clinical context, characteristic brain imaging and fast rhythms on EEG can support the decision to perform molecular analysis and avoid skin biopsy to confirm diagnosis.

  3. Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD).

    PubMed

    Mader, I; Krägeloh-Mann, I; Seeger, U; Bornemann, A; Nägele, T; Küker, W; Grodd, W

    2001-04-01

    Changes of cerebral metabolites detected by proton MR spectroscopy in two cases of infantile neuroaxonal dystrophy are described. A 6 11/12-year-old boy and a girl (aged 4 1/12 years at the first and 5 2/12 years at the second examination) with infantile neuroaxonal dystrophy were investigated by magnetic resonance imaging and spectroscopy of the basal ganglia. The signal intensity of the cerebellar cortex was increased on T2-weighted, proton density, and fluid attenuated inversion recovery images. The long echo time (135 ms) spectra revealed the presence of lactate in the basal ganglia of both cases in all investigations. The N-acetylaspartate/creatine ratio was reduced in Case 1 and in the second investigation of Case 2. The choline/creatine ratio was always increased. As the diagnosis of infantile neuroaxonal dystrophy is made by a synopsis of various clinical, neuropathological, neurophysiological, and neuroradiological data, the presence of lactate in the basal ganglia spectra may help to narrow down the diagnosis and can support the decision to perform more invasive diagnostic procedures (such as biopsies of skin, conjunctiva or even of the brain).

  4. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

    SciTech Connect

    Sharp, J.; Wheeler, R.B.; Jaervelae, I.

    1995-06-05

    The neuronal ceroid-lipofuscinoses (NCL) are a group of neurodegenerative disorders with an autosomal-recessive pattern of inheritance. There are 3 main categories of childhood NCL, namely, infantile, late-infantile, and juvenile NCL. These can be distinguished on the basis of age of onset, clinical course, and histopathology. A number of variant forms of NCL have also been mapped to chromosome areas 1p32 and 16p12, respectively. The gene for late-infantile NCL (LINCL), CLN2, has been excluded from both these loci, but its location is as yet unknown. Recently, CLN5, the gene for the Finnish variant form of LINCL, was mapped to 13q21.1-32. Using the 3 microsatellite markers which were most tightly linked to CLN5, we have excluded CLN2 from this region using a subset of 17 families. Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 6 refs., 1 fig., 1 tab.

  5. Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

    PubMed

    Munabi, Naikhoba C O; Tan, Qian Kun; Garzon, Maria C; Behr, Gerald G; Shawber, Carrie J; Wu, June K

    2015-01-01

    Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.

  6. Infantile Autism and Other Childhood Psychoses in a Swedish Urban Region. Epidemiological Aspects.

    ERIC Educational Resources Information Center

    Gillberg, C.

    1984-01-01

    A total population screening of children born from 1962 to 1976 who lived in the Gothenberg region at the end of 1980 was carried out to obtain prevalence figures for infantile autism and other childhood psychoses. Prevalence was found to be approximately two per 10,000; boys were more affected by infantile autism than were girls. (RH)

  7. Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

    PubMed

    Frattini, Daniele; Nardocci, Nardo; Pascarella, Rosario; Panteghini, Celeste; Garavaglia, Barbara; Fusco, Carlo

    2015-02-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity and dementia. Although nystagmus is a well-established neurological sign in infantile neuroaxonal dystrophy, it is mainly described as pendular and noticed in later stages of the disease. We report a 13-month-old girl with infantile neuroaxonal dystrophy harboring a compound heterozygous mutation in the PLA2G6 gene with downbeat nystagmus as the only presenting symptom. Our case indicates that downbeat nystagmus can be a rare but very early onset sign of cerebellar involvement in infantile neuroaxonal dystrophy and can anticipate the appearance of psychomotor regression and neuroradiological abnormalities. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. Cardiac Autonomic Dysfunction in Patients With Infantile Spasm and the Effect of Adrenocorticotropic Hormone Treatment.

    PubMed

    Gencpinar, Pinar; Kocabas, Abdullah; Duman, Özgür; Dündar, Nihal Olgaç; Haspolat, Senay; Kardelen, Fırat

    2016-02-01

    Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spasm and 13 healthy comparisons were enrolled in the study. Cardiac rhythm was recorded with a Holter device for 24 hours before adrenocorticotropic hormone (ACTH) (Synacthen depot) and B6 vitamin administration and 1 month after treatment. Heart rate variability analysis found lower heart rate variability parameters in patients with infantile spasm at the onset of the syndrome, prior to treatment with ACTH. The time domain parameters of heart rate variability values showed a statistically significant increase following ACTH treatment. Our data suggest that patients with infantile spasm exhibit lower heart rate variability parameters, and the treatment of spasms with ACTH and B6 together diminished the autonomic dysfunction in our cohort.

  9. Cardiac screening in infants with infantile hemangiomas before propranolol treatment.

    PubMed

    Blei, Francine; McElhinney, Doff B; Guarini, Ascanio; Presti, Salvatore

    2014-01-01

    There is no uniform pretreatment cardiac evaluation for infants treated with oral propranolol, which is now the drug of choice for hemangiomas of infancy requiring systemic medical intervention. The aim of this study was to report and evaluate the findings of pretreatment cardiac evaluation. Data were reviewed for patients evaluated by a single hemangioma specialist and a single pediatric cardiologist prior to initiation of propranolol for infantile hemangioma. Cardiac evaluation included a complete echocardiogram. From July 2009 through January 2013, 239 consecutive patients 12 months of age or younger (median 2.7 months) were screened. No patients had cardiac contraindications to propranolol. However, 50 patients (21%) had an abnormal echocardiogram: 39 atrial septal defects (5 associated with right heart enlargement), 6 ventricular septal defects, 2 patent ductus arteriosus, 1 aortic coarctation, 1 pulmonary valve stenosis, and 1 aberrant subclavian artery. Overall, 69 patients had an audible heart murmur, 44 of which were not associated with pathologic findings on echocardiogram. All patients with a ventricular septal defect and 16 of 39 with an atrial septal defect had a murmur. Two of seven patients with PHACE syndrome had cardiac anomalies. None of the findings precluded the use of propranolol. Assisted reproductive technologies were used in 18% of pregnancies, including in vitro fertilization in 12%. Cardiac contraindications to propranolol treatment are uncommon in patients with infantile hemangioma. However, anatomic abnormalities were more common than reported in the general population. Further study is necessary to determine whether there is a pathogenic relationship between cardiac defects and nonsyndromic infantile hemangioma. © 2014 Wiley Periodicals, Inc.

  10. Use of propranolol in infantile haemangioma among Chinese children.

    PubMed

    Chik, K K; Luk, C K; Chan, H B; Tan, H Y

    2010-10-01

    To describe the use of propranolol as first-line treatment or as single therapy to control the proliferating phase of infantile haemangioma in Chinese children. Retrospective study. Regional hospital, Hong Kong. Children 3 years old or younger with facial haemangioma who took oral propranolol between 1 December 2008 and 1 December 2009. There were 12 such patients, all of whom underwent prior clinical evaluation before starting the treatment. Ten patients had a solitary facial haemangioma and two had multiple haemangiomas. The mean age of symptom onset was 12 days. The mean age for starting propranolol treatment was 7 months, and in all cases a clinical response was observed within 7 days. Five (41%) of the patients had complete resolution 2 to 6 months after starting medication, at which time they were 5 to 12 months old. Two of them had a recurrence of the haemangioma within 8 weeks of stopping the drug, but responded to a second treatment course. In these two patients, the propranolol dosage had been tailed down rapidly and the therapy was of a shorter duration than in those without recurrence. The remaining seven patients are still taking propranolol and responding satisfactorily. Hypotension was observed in two patients, one of whom tolerated a lower dose and in the other, therapy was reinitiated at her older age. No serious side-effect was encountered in the remaining patients. Propranolol was useful as first-line or single-agent treatment of facial infantile haemangioma in Chinese children, and gave rise to minimal side-effects. Although recurrence of infantile haemangioma occurred after propranolol was tailed off rapidly after a relatively short duration, an optimal treatment duration and tapering schedule has not yet been defined. Nevertheless, patients responded well to second courses of propranolol therapy.

  11. Propranolol reduces infantile hemangioma volume and vessel density.

    PubMed

    Bingham, Matthew M; Saltzman, Babette; Vo, Nghia-Jack; Perkins, Jonathan A

    2012-08-01

    To evaluate changes in infantile hemangioma tissue before and after propranolol therapy, using gray-scale and color Doppler ultrasound imaging. Case series with chart review. Tertiary pediatric hospital. Medical records and image studies of head and neck infantile hemangioma patients treated with propranolol, identified in a quality improvement database, were reviewed. Patients with imaging before and at least 4 weeks following the initiation of treatment were included. Data collected included sex, age, location, and concurrent treatment. Student t tests were used to evaluate change in cutaneous lesion area, volume, and vessel density. Logistic regression was used to compare lesion area, volume, and vessel density. Of the 177 patients identified, 19 met inclusion criteria. Fourteen of 19 were female, and 5 of 19 were older than 1 year. Mean lesion area change with treatment was 13.0 cm(2) (range, -2.8 to 28.9 cm(2), P = .05). Measured volume change was a mean of 10.3 cm(3) (range, 1.5-19.2 cm(3), P = .01). Mean vessel density change was 4.4 vessels per cm(2) (range, 2.5-6.3 vessels per cm(2), P < .01). Treatment decreased clinically determined hemangioma area proportionately less than gray-scale and color Doppler ultrasound measured lesion volume. Gray-scale and color Doppler ultrasound measured treatment response did not differ with sex, lesion location, or age at propranolol initiation. Gray-scale and color Doppler ultrasound imaging of propranolol-treated infantile hemangiomas detected a significant reduction in lesion volume and vessel density. Patient age at propranolol treatment and concomitant corticosteroid use did not affect lesion volume change.

  12. Therapeutic Effect of Propranolol in Mexican Patients with Infantile Hemangioma.

    PubMed

    Castaneda, Saul; Garcia, Esbeydy; De la Cruz, Hermelinda; Ramirez, Oscar; Melendez, Samuel; Sanchez-Palacio, Jose

    Infantile hemangiomas are the most common childhood vascular tumors, occurring in 10 % of children aged less than 1 year. Propranolol, a β-adrenergic blocker mainly indicated for hypertension, has proven effective in treating these types of tumors. To evaluate the efficacy and adverse effects of propranolol in Mexican pediatric patients diagnosed with infantile hemangioma, treated with an extemporaneously compounded solution of propranolol. An open prospective observational study at the Children's Hospital of the Californias in Tijuana, Mexico was performed on ambulatory pediatric patients between the ages of 3 and 12 months diagnosed with infantile hemangioma. Patients were treated with an oral solution of propranolol in doses ranging from 0.5 to 2.5 mg/kg/day. Children were monitored monthly by the physician in charge, at which time clinical and treatment data were collected. Over a period of 20 months, 31 patients were treated (36 % male and 64 % female).The majority of hemangiomas were superficial (55 %), located mainly on the face. Treatment had an average duration of 10.5 months. Ninety-six percent responded to the treatment, showing decreases in size and coloration of the hemangioma. Children who started therapy before 5 months of age had a significantly better response and shorter duration of treatment. The average therapeutic dose was 1.5 mg/kg/day. Five patients experienced mild adverse effects during the first month of therapy. Treatment with propranolol in this group of Mexican pediatric patients proved to be safe and effective at an average dose of 1.5 mg/kg/day, reducing the size and coloration of hemangioma with a minimum incidence of adverse effects.

  13. Therapeutic Effect of Propranolol in Mexican Patients with Infantile Hemangioma.

    PubMed

    Castaneda, Saul; Garcia, Esbeydy; De la Cruz, Hermelinda; Ramirez, Oscar; Melendez, Samuel; Sanchez-Palacio, Jose

    2016-03-01

    Infantile hemangiomas are the most common childhood vascular tumors, occurring in 10 % of children aged less than 1 year. Propranolol, a β-adrenergic blocker mainly indicated for hypertension, has proven effective in treating these types of tumors. To evaluate the efficacy and adverse effects of propranolol in Mexican pediatric patients diagnosed with infantile hemangioma, treated with an extemporaneously compounded solution of propranolol. An open prospective observational study at the Children's Hospital of the Californias in Tijuana, Mexico was performed on ambulatory pediatric patients between the ages of 3 and 12 months diagnosed with infantile hemangioma. Patients were treated with an oral solution of propranolol in doses ranging from 0.5 to 2.5 mg/kg/day. Children were monitored monthly by the physician in charge, at which time clinical and treatment data were collected. Over a period of 20 months, 31 patients were treated (36 % male and 64 % female).The majority of hemangiomas were superficial (55 %), located mainly on the face. Treatment had an average duration of 10.5 months. Ninety-six percent responded to the treatment, showing decreases in size and coloration of the hemangioma. Children who started therapy before 5 months of age had a significantly better response and shorter duration of treatment. The average therapeutic dose was 1.5 mg/kg/day. Five patients experienced mild adverse effects during the first month of therapy. Treatment with propranolol in this group of Mexican pediatric patients proved to be safe and effective at an average dose of 1.5 mg/kg/day, reducing the size and coloration of hemangioma with a minimum incidence of adverse effects.

  14. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  15. Familial infantile cortical hyperostosis in a large Canadian family.

    PubMed Central

    Maclachlan, A. K.; Gerrard, J. W.; Houston, C. S.; Ives, E. J.

    1984-01-01

    Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity. Images Fig. 2 Fig. 3 PMID:6370402

  16. Unusual imaging presentation of infantile atypical Kawasaki disease.

    PubMed

    Kumar, Nishith; Mittal, Mahesh Kumar; Sinha, Mukul; Gupta, Arpita; Thukral, Brij Bhushan

    2016-01-01

    Kawasaki disease is a systemic medium vessel vasculitis of unknown etiology affecting children under 5 years of age. There are no specific diagnostic tests, and thus, the diagnosis of the disease is primarily made on the basis of clinical criteria. Unusual presentations of Kawasaki disease have been variably reported from different parts of the world. However, presentation of the disease in the form of peripheral thromboembolism and florid non-coronary aneurysms has rarely been described This report describes the imaging findings in infantile atypical Kawasaki disease with aneurysms of multiple medium-sized arteries, including coronary arteries, emphasizing the detection of clinically silent aneurysms in the disease.

  17. Eruption hematoma as a possible oral sign of infantile scurvy.

    PubMed

    Adewumi, Abi O; Ashoor, Isa F; Soares, Flavio M; Guelmann, Marcio; Novak, Donald A

    2010-01-01

    Scurvy, vitamin C deficiency, is uncommon in industrialized societies today. Although supplementation of food with vitamin C has diminished its incidence, scurvy continues to occur in specific economically and nutritionally disadvantaged populations. The purpose of this report was to describe the case of infantile scurvy in a 20-month-old male with multisystem involvement including significant oral manifestations. Following an extensive initial evaluation, the multidisciplinary approach to diagnosis and management is discussed. This case demonstrates the need for heightened awareness of severe and multiplefood allergies in children and highlights disease conditions caused by nutritional deficiencies in this population.

  18. Uraemia as a determinant of convulsions in acute infantile hypernatraemia

    PubMed Central

    Stephenson, J. B. P.

    1971-01-01

    In a group of 57 infants with acute illness and hypernatraemia (sodium 150 mEq/l. or over), convulsions occurred early in therapy in 17. Other common causes of convulsions had been eliminated as far as possible. The incidence of convulsions was related to the degree of uraemia and acidaemia present on admission and not related to the sodium concentration. It is concluded that hypernatraemia, within the range studied, is not an important cause of infantile seizures unless other factors are operating. Elucidation of these other factors may be more profitable than study of the osmotic properties of the body fluids. PMID:5118055

  19. Distinct reovirus-like agents associated with acute infantile gastroenteritis.

    PubMed Central

    Espejo, R T; Calderon, E; Gonzalez, N

    1977-01-01

    Human reovirus-like particles were found by electron microscopy in the stools of 25% of 71 infants and young children hospitalized with acute gastroenteritis in Mexico between December 1976 and April 1977. The virus was also identified by the electrophoresis patterns of its ribonucleic acid upon disruption of partially purified particles. This technique is as reliable as electron microscopy but less laborious, and could become a routine diagnostic procedure. The electrophoretic patterns of viral ribonucleic acid from different cases suggest that there are at least two different reovirus-like agents associated with infantile gastroenteritis. Images PMID:411805

  20. Infantile hydrocephalus: a review of epidemiology, classification and causes

    PubMed Central

    Tully, Hannah M; Dobyns, William B

    2015-01-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  1. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  2. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  3. Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma

    PubMed Central

    Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

    2016-01-01

    We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review. PMID:27761184

  4. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review.

    PubMed

    Tray, Kory A; Laut, Jeffrey; Saidi, Arya

    2015-01-01

    We present two unrelated cases of young adults with hypercalcemia, hypercalciuria, and nephrocalcinosis. Both had suppressed intact parathyroid hormone levels and high 1,25 vitamin D levels after only brief, low-dose, over-the-counter vitamin supplementation. Neither had evidence of a granulomatous disorder. Their presentation mimicked that of 1,25 hydroxy vitamin D intoxication. In both patients, the diagnosis of idiopathic infantile hypercalcemia was confirmed with immeasurably low 24,25 vitamin D levels. Both were found to have a loss-of-function mutation in the CYP24A1 gene, which encodes the vitamin D-metabolizing enzyme 25-hydroxyvitamin D 24-hydroxylase.

  5. Cardiovascular Profile of Propranolol after Multiple Dosing in Infantile Hemangioma.

    PubMed

    Salice, Patrizia; Giovanni Bianchetti, Mario; Giavarini, Alessandra; Gondoni, Erica; Cavalli, Riccardo; Maria Colli, Anna; Lombardi, Federico

    2017-01-01

    Propranolol is becoming the treatment of choice for complicated infantile hemangioma. We report here data on peripheral blood flow, O2-saturation, electrocardiographic PR-interval, left ventricular function, blood pressure and heart rate that were assessed before and during treatment for ≥4 weeks with propranolol 2 mg/kg of body weight daily in 67 infants <12 months of age in normal sinus rhythm and with structurally normal hearts. Management with propranolol was well tolerated in all and did not modify peripheral blood flow, O2-saturation, electrocardiographic PR-interval and left ventricular fractional shortening or ejection fraction. Absolute blood pressure levels were similar without and with propranolol. However, age-adjusted centile levels for both systolic and diastolic levels were significantly lower while on propranolol. The heart rate was significantly lower both when expressed as absolute value and when expressed as age-adjusted centile on treatment with propranolol. In conclusion, propranolol 2 mg/kg of body weight daily causes a statistically though not clinically relevant decrease in blood pressure and heart rate in cardially healthy infants affected by infantile hemangioma. Temporary discontinuation during acute febrile illnesses and during diarrheal diseases should be considered to prevent excessive hypotension.

  6. Quality-of-care indicators for infantile spasms.

    PubMed

    Wang, C Jason; Jonas, Rinat; Fu, Chong Min; Ng, Chun Y; Douglass, Laurie

    2013-01-01

    We developed a comprehensive set of quality-of-care indicators for the management of children with infantile spasms in the United States, encompassing evaluation, diagnosis, treatment, and prevention and management of side effects and comorbidities. The indicators were developed using the RAND/UCLA Modified Delphi Method. After a focused review of the literature and guidelines by the study team, an expert panel (nominated by leaders of Child Neurology Society, American Epilepsy Society, and National Institute for Neurologic Disorders) rated the draft indicators anonymously, met face-to-face to discuss each indicator, and rerated the revised indicators on validity, feasibility, and importance. The panel recommended 21 indicators, of which 8 were identified as most likely to have a large positive impact on improving quality of life and/or health outcomes for children with infantile spasms. The proposed indicators can be used to assess and document variations and gaps in quality-of-care and inform future research and quality improvement interventions.

  7. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report].

    PubMed

    Ba, I D; Ba, A; Thiongane, A; Ly/Ba, A; Ba, M; Fattah, M; Faye, P M; Cissé, D F; Diouf, F N

    2016-05-01

    Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.

  8. Infantile abdominoscrotal hydrocele: a not so benign condition.

    PubMed

    Cozzi, Denis A; Mele, Ermelinda; Ceccanti, Silvia; Pepino, Daniela; d'Ambrosio, Giuseppe; Cozzi, Francesco

    2008-12-01

    Infantile abdominoscrotal hydrocele is a rarely described condition. We report the outcome of the largest single institution experience managing these lesions. We retrospectively reviewed descriptive case series of all infants treated between January 1998 and December 2007. Postoperative followup ranged from 3 to 107 months (median 48). A total of 18 consecutive patients underwent abdominoscrotal hydrocele repair at age 3 to 21 months (median 8). The first 13 patients underwent inguinal hydrocelectomy, which consisted of high ligation of the processus vaginalis and complete excision of the abdominal component of the lesion. The remaining 5 patients underwent plication of the tunica vaginalis accomplished through the scrotum. Included in this group were 2 patients initially treated expectantly because the lesion was without undue tension at diagnosis. Both cases demonstrated spontaneous resolution of the abdominal component of the lesion but ultimately required surgery for scrotal hydrocele. Overall 23 testes (5 bilateral lesions) were operated on, of which 18 had some degree of testicular dysmorphism detected by ultrasonography or during surgery and 15 fully recovered postoperatively. A total of 11 patients experienced 1 or more postoperative complications, including persistent scrotal swelling (7), hypoplastic testis (3), scrotal hematoma (2), inguinal hernia (1) and cryptorchidism (1). Morbidity related to scrotal hydrocelectomy was negligible. There were no recurrences of abdominoscrotal hydrocele in the series. Tense infantile abdominoscrotal hydroceles are associated with a high rate of testicular dysmorphism, which is often reversed by early intervention. Simple transscrotal plication of the tunica vaginalis represents an effective procedure with decreased postoperative complications.

  9. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.

    PubMed

    Seven, M; Ozkiliç, A; Yüksel, A

    2002-01-01

    Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpaşa Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD.

  10. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child

    PubMed Central

    Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

    2015-01-01

    Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

  11. Implications of delayed diagnosis of infantile spasm in a child with Down syndrome

    PubMed Central

    Buterbaugh, Allison; Visootsak, Jeannie

    2014-01-01

    Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1–13% of children with DS have co-morbid seizures, with infantile spasm being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasm are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS. We present the case of a male infant with DS, where the diagnosis of infantile spasm was delayed by 5 mo. His case was associated with developmental regression and intractable seizure activity following diagnosis. The case highlights the implications of delayed diagnosis on treatment strategies and developmental outcomes. Keywords: Down syndrome, infantile spasm, delayed diagnosis PMID:25309120

  12. Spontaneous resolution of an infantile hemangioma in a dorsal root ganglion.

    PubMed

    Hervey-Jumper, Shawn L; McKeever, Paul E; Gebarski, Stephen S; Muraszko, Karin M; Maher, Cormac O

    2011-12-01

    Infantile hemangiomas are tumors commonly seen in children. Few authors have reported infantile hemangiomas affecting the CNS, and there are no prior reports detailing spontaneous resolution of a histologically proven juvenile hemangioma within a dorsal root ganglion. The authors report the case of a newborn boy with a large cutaneous hemangioma in the midline of his back. Spinal MR images were obtained to rule out associated spinal cord tethering, and an intradural spinal lesion was unexpectedly discovered. Biopsy revealed an intradural infantile hemangioma within the dorsal root ganglion, and, based on this diagnosis, no resection was performed. Sixteen months following the biopsy, the cutaneous hemangioma had become involuted and the intradural hemangioma had completely resolved. The behavior of the intradural component in this case follows the natural history of many cutaneous infantile hemangiomas.

  13. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

    PubMed

    Zhang, L M; An, Y; Pan, G; Ding, Y F; Zhou, Y F; Yao, Y H; Wu, B L; Zhou, S Z

    2015-09-01

    Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.

  14. Misleading Cues in the Diagnosis of Mental Retardation and Infantile Autism in the Preschool Child.

    ERIC Educational Resources Information Center

    Myers, Beverly A.

    1989-01-01

    Difficulties in the differential diagnosis of mental retardation and infantile autism in the preschool child are discussed, and essential components in the assessment of preschool children with behavioral, developmental, or cognitive deviations are identified. (Author/DB)

  15. Adrenocorticotropic hormone versus prednisolone in the treatment of infantile spasms post vigabatrin failure.

    PubMed

    Jones, Kevin; Snead, O Carter; Boyd, Jennifer; Go, Cristina

    2015-04-01

    The Child Neurology Society/American Academy of Neurology practice parameter has recommended adrenocorticotropic hormone or vigabatrin in the short-term treatment of infantile spasms. When vigabatrin is unavailable or ineffective and adrenocorticotropic hormone is not a treatment option because of the prohibitive cost, other forms of corticosteroids have been considered in the treatment of infantile spasms. This retrospective study reviewed the Hospital for Sick Children's experience with the short-term effectiveness of prednisolone versus adrenocorticotropic hormone in patients with infantile spasms who have failed vigabatrin. The results showed that while adrenocorticotropic hormone was more likely to lead to short-term spasm freedom, there was no difference in the likelihood of longer-term spasm resolution without relapse. These findings can guide clinicians in the treatment of infantile spasms post vigabatrin failure.

  16. Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms.

    PubMed

    Peltzer, Bradley; Alonso, William D; Porter, Brenda E

    2009-04-01

    Historically, adrenocorticotropic hormone was used as a first-line treatment for infantile spasms; however, there has been increasing use of topiramate as initial therapy. Here, we report a retrospective study of adrenocorticotropic hormone (ACTH) and topiramate as initial treatment for infantile spasms. The neurology patient database at the Children's Hospital of Philadelphia was searched using the International Classification of Diseases, Ninth Revision code for infantile spasms, and 50 patients were randomly chosen for chart review. We identified 31 patients receiving either adrenocorticotropic hormone or topiramate monotherapy (adrenocorticotropic hormone n = 12, topiramate n = 19) as a first-line treatment for infantile spasms. A total of 26 patients were symptomatic and 5 cryptogenic. Six patients treated with adrenocorticotropic hormone had resolution of clinical spasms and hypsarrhythmia within a month, but 3 relapsed. Of the 19 patients treated with topiramate, 4 patients eventually, though over a period of 0, 1, 8, or 69 months, had resolution of spasms and hypsarrhythmia.

  17. Infantile tremor syndrome: Role of Vitamin B12 revisited

    PubMed Central

    Gupta, Rajesh; Mandliya, Jagdish; Sonker, Pavan; Patil, Vandana; Agrawal, Manish; Pathak, Ashish

    2016-01-01

    Objective: To study the role of Vitamin B12 as an etiological factor in patients of infantile tremor syndrome (ITS). Methods: Twelve consecutive admissions of children diagnosed clinically as ITS were assessed. Assessment was done using a predefined pro forma to document patient demographic factors, general examination, systemic examination as well as relevant hematological and biochemical investigations. Results: Out of the 12 cases of ITS, 6 were males and 6 were females. Two cases had serum B12 levels below reference values, five had levels in low normal range, and remaining five had normal values. Conclusions: Role of Vitamin B12 deficiency as an etiological factor in the patients of ITS is inconclusive. PMID:28217151

  18. Infantile-onset saccade initiation delay (congenital ocular motor apraxia).

    PubMed

    Salman, Michael S

    2015-05-01

    Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defective slow phases of the optokinetic response are commonly associated with brain MRI abnormalities. Isolated defect of vertical saccade initiation may indicate supratentorial brain abnormalities on MRI. Joubert syndrome, a developmental midbrain-hindbrain malformation, and ataxia telangiectasia are both commonly associated with defective volitional and reflexive saccade initiation, saccade hypometria, and head thrusts. Both horizontal and vertical saccades are impaired in these two disorders.

  19. Persistent neurogenic bladder dysfunction due to infantile botulism.

    PubMed

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-13

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.

  20. Neonatal and infantile spinal sonography: A useful investigation often underutilized.

    PubMed

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated.

  1. Neonatal and infantile spinal sonography: A useful investigation often underutilized

    PubMed Central

    Nair, Nikhil; Sreenivas, M; Gupta, Arun K; Kandasamy, Devasenathipathy; Jana, Manisha

    2016-01-01

    Sonography is an ideal, effective, noninvasive tool for evaluation of the spinal cord in neonatal and early infantile age groups owing to lack of ossification of the posterior elements of spine. Understanding normal anatomical appearances is a prerequisite for the interpretation of various pathologies of the spinal canal and its contents. This review elucidates normal appearances of the spinal cord in this age group, in both axial and sagittal planes. Usefulness of Doppler sonography is briefly discussed, and special emphasis is placed on normal anatomical variants that may mimic spinal abnormalities. Sonographic appearances of common intraspinal pathologies, both congenital and acquired, are exhaustively described. Key points regarding sonographic diagnosis of important spinal anomalies are emphasized and explained in detail. To conclude, spinal ultrasound is a reliable and widely available screening tool, albeit the usefulness of which is often underestimated. PMID:28104945

  2. [The infantile sexual seduction: revolution and aftermath of Freud's theory].

    PubMed

    Figueroa, Gustavo C

    2014-01-01

    There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory.

  3. Infantile generalized pustular psoriasis: successful disease control with intermittent etretinate.

    PubMed

    Namba, Chika; Murakami, Masamoto; Hanakawa, Yasushi; Tohyama, Mikiko; Shirakata, Yuji; Tauchi, Hisamichi; Sayama, Koji

    2014-05-01

    Infantile generalized pustular psoriasis is a rare form of psoriasis and the best treatment is controversial. We experienced a 2-year-old female with erythema on her neck and axilla starting at 3 months of age. She presented with recurrent annular and geographic scaly erythema with a few pustules on the neck, precordium and axilla, but no fever. The histopathology revealed subcorneal neutrophilic infiltration and microabscesses without Kogoj's spongiform pustules. The initial diagnosis was subcorneal pustular dermatosis. However, she developed widespread geographic erythema and numerous pustules over her entire body with a fever when she got a cold. A second skin biopsy revealed monolocular pustules and Kogoj's spongiform pustules in the subcorneal layer. Etretinate was administrated after a diagnosis of pustular psoriasis was made and her condition improved gradually. The choice of treatment depends on patient age, general condition and the disease severity. © 2014 Japanese Dermatological Association.

  4. [Neuroanatomical, genetic and neurochemical aspects of infantile autism].

    PubMed

    Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

    2013-01-01

    Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

  5. Omental-mesenteric myxoid hamartomas. Infantile lesions simulating malignant tumors.

    PubMed

    Gonzalez-Crussi, F; deMello, D E; Sotelo-Avila, C

    1983-09-01

    Three infants presented with multiple nodular tumors of the omentum and mesentery characterized histologically by plump mesenchymal cells in a myxoid, well-vascularized stroma. Electron microscopy of one tumor revealed reticulated inclusions in dilated cisterna of endoplasmic reticulum. Diagnoses by the original pathologist, or by consultants from referral centers in the United States included liposarcoma, primitive sarcoma, possible leiomyosarcoma, and fibromatosis, but the subsequent evolution of the patients questions the validity of such diagnoses. Two patients received what was deemed ineffective therapy, yet survived with no evidence of disease for over a decade of close follow-up. Another patient received no therapy other than the initial surgery, and has been well for more than a year. Infantile lesions may show deceptive features of immaturity and high cellularity that are apt to be confused with a true malignancy. Omentalmesenteric "myxoid" lesions are probably hamartomatous in origin.

  6. [Infection by Toxoplasma gondii in children with infantile cerebral palsy].

    PubMed

    Tay, J; Gutiérrez Quiroz, M; Fernández Presas, A M; Romero Cabello, R; Ruiz González, L; Martínez Barbabosa, I

    1997-01-01

    An analytic relationship between positivity of the indirect immunofluorescent test (IIFT) for toxoplasmosis and clinical findings in a population of 328 children with cerebral infantile palsy (CIP) was performed. Children were distributed by age in one of four groups: I (0-2 years); II (3-6 years); III (7-12 years) and IV (13-18 years). One control group of 168 children with no PCI clinical findings was included. 125 sera were positive at 1:64 dilutions. The study of the binomial mother-child of 40 cases rendered 26 mothers with significant titer values. The majority of positive mothers to IIFT correlated with the youngest children (Groups I, II and III), mainly with group I (70.0%), which showed the highest titer ranges. Correlation between positive IIFT and clinical features was as high as 100.0%.

  7. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients.

    PubMed

    Farina, L; Nardocci, N; Bruzzone, M G; D'Incerti, L; Zorzi, G; Verga, L; Morbin, M; Savoiardo, M

    1999-05-01

    We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered.

  8. PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

    PubMed

    Khateeb, Shareef; Flusser, Hagit; Ofir, Rivka; Shelef, Ilan; Narkis, Ginat; Vardi, Gideon; Shorer, Zamir; Levy, Rachel; Galil, Aharon; Elbedour, Khalil; Birk, Ohad S

    2006-11-01

    Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate : chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders.

  9. Rare association of central pontine myelinolysis with infantile tremor syndrome

    PubMed Central

    Datta, Kalpana; Datta, Supratim; Dutta, Indranil

    2012-01-01

    Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects. PMID:22412274

  10. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

    PubMed

    Horvath, Rita; Kemp, John P; Tuppen, Helen A L; Hudson, Gavin; Oldfors, Anders; Marie, Suely K N; Moslemi, Ali-Reza; Servidei, Serenella; Holme, Elisabeth; Shanske, Sara; Kollberg, Gittan; Jayakar, Parul; Pyle, Angela; Marks, Harold M; Holinski-Feder, Elke; Scavina, Mena; Walter, Maggie C; Coku, Jorida; Günther-Scholz, Andrea; Smith, Paul M; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; Lightowlers, Robert N; Hirano, Michio; Lochmüller, Hanns; Taylor, Robert W; Chinnery, Patrick F; Tulinius, Mar; DiMauro, Salvatore

    2009-11-01

    Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.

  11. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study

    PubMed Central

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies. PMID:22844342

  12. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study.

    PubMed

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies.

  13. Pathophysiology of infantile pulmonary arterial hypertension induced by monocrotaline.

    PubMed

    Dias-Neto, Marina; Luísa-Neves, Ana; Pinho, Sónia; Gonçalves, Nádia; Mendes, Maria; Eloy, Catarina; Lopes, José M; Gonçalves, Daniel; Ferreira-Pinto, Manuel; Leite-Moreira, Adelino F; Henriques-Coelho, Tiago

    2015-06-01

    Pediatric pulmonary arterial hypertension (PAH) presents certain specific features. In this specific age group, experimental models to study the pathophysiology of PAH are lacking. To characterize hemodynamic, morphometric, and histological progression as well as the expression of neurohumoral factors and regulators of cardiac transcription in an infantile model of PAH induced by monocrotaline (MCT), eight-day-old Wistar rats were randomly injected with MCT (30 mg/kg, sc, n = 95) or equal volume of saline solution (n = 92). Animals were instrumented for biventricular hemodynamic recording 7, 14, and 21 days after MCT, whereas samples were collected at 1, 3, 7, 14, and 21 days after MCT. Different time point postinjections were defined for further analysis. Hearts and lungs were collected for morphometric characterization, assessment of right- and left-ventricle (RV and LV) cardiomyocyte diameter and collagen type-I and type-III ratio, RV collagen volume fraction, and pulmonary vessels wall thickness. mRNA quantification was undertaken for brain natriuretic peptide (BNP), endothelin-1 (ET-1), and for cardiac transcription regulators (HOP and Islet1). Animals treated with MCT at the 8th day of life presented RV hypertrophy since day 14 after MCT injection. There were no differences on the RV collagen volume fraction or collagen type-I and type-III ratio. Pulmonary vascular remodelling and PAH were present on day 21, which were accompanied by an increased expression of BNP, ET-1, HOP, and Islet1. The infantile model of MCT-induced PAH can be useful for the study of its pathophysiology and to test new therapeutic targets in pediatric age group.

  14. Placental transfer of and infantile exposure to perchlorate.

    PubMed

    Zhang, Tao; Ma, Yufang; Wang, Dou; Li, Rudan; Chen, Xiaojia; Mo, Weiwen; Qin, Xiaolei; Sun, Hongwen; Kannan, Kurunthachalam

    2016-02-01

    Fetuses and infants are vulnerable to perchlorate toxicity. We assessed fetal and infantile exposure to perchlorate in two Chinese cities (Nanchang and Tianjin). Perchlorate was widely found (82%-100%) in breast milk, dissolved infant formula, infants' urine, maternal and cord blood samples. Perchlorate levels in infants' urine (mean ± standard deviation: 22.4 ± 35.6 ng mL(-1)), breast milk (36.6 ± 48.1 ng mL(-1)), and cord blood (3.18 ± 3.83 ng mL(-1)) samples collected from Nanchang and Tianjin were approximately an order of magnitude higher than those reported for the U.S. Perchlorate concentrations in cord blood were comparable to that in maternal blood, indicating that perchlorate is transferred from mother to fetus through placenta. Among all infants providing urine samples, the average daily intake of perchlorate (DOSEU) was estimated to be 1.17 ± 1.57 μg kg(-1) bw d(-1), and 40% of these infants had DOSEU exceeding the RfD (0.7 μg kg(-1) bw d(-1)) recommended by U.S. EPA. However, approximately 70% of exclusively breast-fed infants had perchlorate exposure dose via breast milk exceeding the RfD. For breast-fed infants, breast milk was the overwhelmingly predominant exposure pathway; while infant formula and indoor dust ingestion were major perchlorate exposure sources for formula-fed infants. To our knowledge, this is the first report to assess the fetal and infantile exposure to perchlorate in China. Copyright © 2015. Published by Elsevier Ltd.

  15. Propranolol for infantile haemangioma: striking effect in the first weeks.

    PubMed

    Katona, Gábor; Csákányi, Zsuzsanna; Gács, Eva; Szalai, Zsuzsanna; Ráth, Gábor; Gerlinger, Imre

    2012-12-01

    Discuss effect and dynamics of propranolol (PR) treatment in infantile haemangioma (IH) of head and neck in children during follow-up. Between 2010 and 2011, 22 children with head and neck infantile haemangioma (IH) treated by PR were recruited into the study. In a retrospective chart review clinical data were analyzed at 5 consecutive, different check-up time from 1 week to 12-14 months. Effectiveness of PR treatment was assessed by a symptom score method. In the whole series a significant regression was observed in 13 patients (59%) in the first week of the therapy. Further five patients showed this time a marked, two mild improvements, and two children did not respond initially to the PR therapy. In one of them (case #8) later on a mild improvement could be seen too. At the second check-up (1 month after initiating PR therapy) 50% of children showed definitive improvement compared to the first visit. Difference between first and second check-ups was significant, and between the 4th and 5th visits the improvement showed the lowest rate. Comparison of IH regression between the 2nd and the 5th check-ups resulted in a p value a little larger than 0.05. There was not significant correlation between the initial IH severity and the treatment effectiveness at the follow-ups (p>0.05). No significant differences were found in treatment effectiveness concerning the IH localizations, too. PR treatment is highly effective in children with IHs. The most striking effect is seen at the first week of treatment; later improvement is much slower, sometimes with periods of stagnations. The cause of this is probably the spectacular early effect of vasoconstriction, though other impacts of PR to the individual molecular markers of IH seemed to be less impressive clinically. However, treatment should be continued for at least 6 months because early cessation can cause a relapse. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  16. Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.

    PubMed

    Lee, Chee-Seng; Kimura, Akihiko; Wu, Jia-Feng; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Chang, Mei-Hwei; Nittono, Hiroshi; Chen, Huey-Ling

    2017-03-01

    Tetrahydroxy bile acids (THBAs) are hydrophilic and are present at minimal or undetectable levels in healthy human adults, but are present at high levels in bile salt export pump (abcb11)-knockout mice. The roles of THBAs in human cholestatic diseases are unclear. We aimed to investigate the presence of THBAs in patients with infantile intrahepatic cholestasis and its correlation with outcome. Urinary bile acids (BAs) were analyzed by GC-MS. Data were compared between good (n = 21) (disease-free before 1 year old) and poor prognosis groups (n = 19). Good prognosis patients had a higher urinary THBA proportion than poor prognosis patients [25.89% (3.45-76.73%) vs. 1.93% (0.05-48.90%)]. A urinary THBA proportion >7.23% predicted good prognosis with high sensitivity (95.24%), specificity (84.21%), and area under the curve (0.91) (P < 0.0001). A THBA proportion 7.23% was an independent factor for decreased transplant-free survival (hazard ratio = 7.16, confidence interval: 1.24-41.31, P = 0.028). Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). In conclusion, in addition to disease entity as a major determinant of outcome, a high THBA level was associated with good outcome in the infantile intrahepatic cholestasis patients.

  17. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

    PubMed Central

    2013-01-01

    Background Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. Methods Clinical data were collected from 22 families with BFIE and eight families with ICCA. PRRT2 mutations were screened using PCR and direct sequencing. Results Ninety-five family members were clinically affected in the 22 BFIE families. During follow-up, two probands had one seizure induced by diarrhea at the age of two years. Thirty-one family members were affected in the eight ICCA families, including 11 individuals with benign infantile epilepsy, nine with PKD, and 11 with benign infantile epilepsy followed by PKD. Two individuals in one ICCA family had PKD or ICCA co-existing with migraine. One affected member in another ICCA family had experienced a fever-induced seizure at 7 years old. PRRT2 mutations were detected in 13 of the 22 BFIE families. The mutation c.649_650insC (p.R217PfsX8) was found in nine families. The mutations c.649delC (p.R217EfsX12) and c.904_905insG (p.D302GfsX39) were identified in three families and one family, respectively. PRRT2 mutations were identified in all eight ICCA families, including c.649_650insC (p.R217PfsX8), c.649delC (p.R217EfsX12), c.514_517delTCTG (p.S172RfsX3) and c.1023A > T (X341C). c.1023A > T is a novel mutation predicted to elongate the C-terminus of the protein by 28 residues. Conclusions Our data demonstrated that PRRT2 is the major causative gene of BFIE and ICCA in Chinese families. Site c.649 is a mutation hotspot: c.649_650insC is the most common mutation, and c.649delC is the second most common mutation in Chinese families with BFIE and ICCA. As far as we know, c.1023A > T is the first reported mutation in exon 4 of PRRT2. c.649delC was previously reported in

  18. Primitive mesodermal cells with a neural crest stem cell phenotype predominate proliferating infantile haemangioma.

    PubMed

    Itinteang, Tinte; Tan, Swee T; Brasch, Helen; Day, Darren J

    2010-09-01

    Infantile haemangioma is a tumour of the microvasculature characterised by aggressive angiogenesis during infancy and spontaneously gradual involution, often leaving a fibro-fatty residuum. The segmental distribution of a subgroup of infantile haemangioma, especially those associated with midline structural anomalies that constitute posterior fossa malformations-hemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (PHACES), led us to investigate whether neural crest cells might be involved in the aetiology of this tumour. Immunohistochemical staining on paraffin embedded infantile haemangioma sections and immunocytochemical staining on cells derived from proliferating haemangioma cultures were performed. The endothelium of proliferating infantile haemangioma contains abundant cells that express the neurotrophin receptor (p75), a cell surface marker that identifies neural crest cells, and also for brachyury, a transcription factor expressed in cells of the primitive mesoderm. The endothelium is also immunoreactive for the haematopoietic stem cell marker, CD133; the endothelial-haematopoietic stem/progenitor marker, CD34; the endothelial cell markers, CD31 and VEGFR-2; and the mesenchymal stem cell markers, CD29 and vimentin. Additionally, immunoreactivity for the transcription factors, Sox 9 and Sox 10, that are expressed by prospective neural crest cells was also observed. Cells from microvessel-like structures were isolated from in vitro cultured haemangioma tissue explants embedded in a fibrin matrix. Immunostaining of these cells showed that they retained expression of the same lineage-specific markers that are detected on the paraffin embedded tissue sections. These data infer that infantile haemangioma is derived from primitive mesoderm and that the cells within the lesion have a neural crest stem cell phenotype, and they express proteins associated with haematopoietic, endothelial, neural crest and

  19. Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

    PubMed Central

    2014-01-01

    Introduction Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis. Case presentation We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely. Conclusions Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion. PMID:24886244

  20. Advances in the management of congenital and infantile cataract.

    PubMed

    Lloyd, I C; Ashworth, J; Biswas, S; Abadi, R V

    2007-10-01

    Congenital and infantile cataracts produce deprivation amblyopia and can thus cause lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Accurate optical rehabilitation and postoperative supervision are essential.The timing of surgery and its relationship to the duration of deprivation is important. Unilateral congenital cataract surgery within 6 weeks of birth produces the best outcomes. The equivalent 'latent' period for bilateral visual deprivation may be longer at around 10 weeks. Visual deprivation has a significant impact on the development of fixation stability. Major form deprivation, even after early surgery, leads to nystagmus. This is mostly manifest latent nystagmus (MLN). The latent period for fixation stability may be as short as 3 weeks. Preoperative congenital nystagmus (CN) can convert to more benign MLN after surgery. Infantile IOL implantation is becoming increasingly accepted. A satisfactory long-term refractive result requires that allowance be made for childhood axial growth and myopic shift. In a series of 25 infants (33 eyes) implanted before 12 months of age, the mean myopic shift at 12 months was 4.83 D. This increased to 5.3 D in infants implanted before 10 weeks. The initial desired refractive outcome following IOL implantation is thus hypermetropia, with the degree dependent on the age of the child. Glaucoma or ocular hypertension is a common complication following paediatric cataract surgery. Microphthalmia and surgery in early infancy are risk factors. Tonometry results may be influenced by the increased corneal thickness seen in aphakic and pseudophakic children. The long-term prognosis of eyes with aphakic glaucoma is not necessarily poor but intraocular pressure control may require three or more medications. Surgical intervention appears to be necessary in over a quarter of eyes. Posterior capsule opacification (PCO) is common in infants undergoing primary lens

  1. Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

    PubMed Central

    2013-01-01

    Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

  2. Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

    PubMed

    Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

    2013-05-17

    Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

  3. Propranolol was effective in treating cutaneous infantile haemangiomas in Thai children.

    PubMed

    Techasatian, Leelawadee; Komwilaisak, Patcharee; Panombualert, Sunee; Uppala, Rattapon; Jetsrisuparb, Charoon

    2016-06-01

    The aim of this study was to explore the efficacy and safety of propranolol in treating infantile haemangiomas, the most common benign vascular tumours in children. We carried out a retrospective chart review of infantile haemangioma patients admitted to the Faculty of Medicine, Khon Kaen University, Thailand, from January 2009 to January 2015. There were 53 infantile haemangioma cases treated with oral propranolol. Treatment responses occurred as early as two weeks after propranolol administration in 91.5% of the follow-up patients, with all 53 cases achieving the desired treatment responses two months after propranolol was initiated. No significant differences in treatment responses were found between propranolol as a mono-therapy or as a combination therapy with prednisolone at the two-week (p value 0.13) and one-month follow-ups (p value 0.98). Complications were documented in three cases (5.6%) when the propranolol dose was increased, and these were asymptomatic hypoglycaemia in two cases and one case of hypotension. Propranolol was effective in treating infantile haemangiomas, and combining it with prednisolone achieved no significant differences in treatment outcome. Cases should be monitored for hypoglycaemia and hypotension. More data on using propranolol for infantile haemangiomas are needed, including long-term follow-up studies. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  4. YouTube videos as a teaching tool and patient resource for infantile spasms.

    PubMed

    Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick

    2011-07-01

    The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

  5. The pigment epithelium-derived factor (PEDF): an important potential therapeutic agent for infantile hemangioma.

    PubMed

    Li, Ming; Chen, Yanru; Guo, Zhihui; Xie, Yide; Zhou, Yakuan; Jiang, Chenghong; Chen, Xiaosong

    2017-04-01

    In previous studies, the expression and the role of proangiogenic factors in infantile hemangiomas have been well studied. However, the role of angiogenic inhibitors has been revealed rarely. The expression of PEDF, as the strongest and safe endogenous inhibitor, is still unrecognized until the current study. In order to investigate the expression and significance of the pigment epithelium-derived factor (PEDF) in the proliferating and regressing phases of infantile hemangiomas, the expression of PEDF, VEGF, Ki-67, and CD34 protein in hemangioma tissues was examined with immunohistochemical polymer HRP method in 42 cases during the proliferative phase, 40 cases during the regressing phase, and 11 cases of non-involuting congenital hemangiomas (NICHs). Meanwhile, the mRNA expression of these factors was detected with quantitative realtime RT-PCR. We found the protein and mRNA expression of PEDF in regressing phase was significantly higher than those in proliferative phase and NICHs (P < 0.001), while the protein and mRNA expression of VEGF were much lower (P < 0.001). The microvessel density (MVD), Ki-67 changes, and the expression of PEDF and VEGF were found significantly correlated. These results indicated that the reduction of VEGF and increase in PEDF are causative to the evolution of infantile hemangioma. PEDF may play a key role in the spontaneous regression of infantile hemangioma and may become an important potential therapeutic agent for infantile hemangioma.

  6. 3D photography is a reliable method of measuring infantile haemangioma volume over time.

    PubMed

    Robertson, Sarah A; Kimble, Roy M; Storey, Kristen J; Gee Kee, Emma L; Stockton, Kellie A

    2016-09-01

    Infantile haemangiomas are common lesions of infancy. With the development of novel treatments utilised to accelerate their regression, there is a need for a method of assessing these lesions over time. Volume is an ideal assessment method because of its quantifiable nature. This study investigated whether 3D photography is a valid tool for measuring the volume of infantile haemangiomas over time. Thirteen children with infantile haemangiomas presenting to the Vascular Anomalies Clinic, Royal Children's Hospital/Lady Cilento Children's Hospital treated with propranolol were included in the study. Lesion volume was assessed using 3D photography at presentation, one month and three months follow up. Intrarater reliability was determined by retracing all images several months after the initial mapping. Interrater reliability of the 3D camera software was determined by two investigators, blinded to each other's results, independently assessing infantile haemangioma volume. Lesion volume decreased significantly between presentation and three-month follow-up (p<0.001). Volume intra- and interrater reliability were excellent with ICC 0.991 (95% CI 0.982, 0.995) and 0.978 (95% CI 0.955, 0.989), respectively. This study demonstrates images taken with the 3D LifeViz™ camera and lesion volume calculated with Dermapix® software is a reliable method for assessing infantile haemangioma volume over time. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma.

    PubMed

    Jones, Kevin; Minassian, Berge A

    2014-05-01

    Infantile spasms is an epileptic encephalopathy and the common final manifestation of numerous disparate insults to the developing brain during infancy. The varied etiologies may be structural, metabolic, genetic, or unknown. Etiological diagnosis is important as it may lead to specific therapy, which may affect developmental outcome. We report a case of infantile spasms of unknown etiology with dysmorphic features, in which genetic copy number variation microarray testing was included in the investigation of the cause of the disease. A large deletion of chromosome 13 was identified in the region 13q13 to 13q21.3 encompassing the retinoblastoma gene (13q14.2). Urgent ophthalmological evaluation revealed an asymptomatic retinoblastoma of the left eye, leading to early treatment. This is the first case report of infantile spasms specifically associated with a chromosome 13q deletion. Chromosomal region 13q13 to 13q21.3 may contain one or more genes whose hemizygous loss leads to infantile spasms. Copy number variation testing for cryptogenic infantile spasms led to the discovery of a mutation responsible for retinoblastoma, enabling early diagnosis and treatment of a potentially life-threatening cancer. High-sensitivity molecular diagnosis improves health care and substantially reduces expenses. This shift in diagnostic evaluation is broadly relevant to health care. Crown Copyright © 2014. Published by Elsevier Inc. All rights reserved.

  8. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions.

  9. Safety and Efficacy of Vigabatrin for the Treatment of Infantile Spasms

    PubMed Central

    Faulkner, Michele A.; Tolman, Justin A.

    2011-01-01

    In 2009, vigabatrin became the first FDA approved medication for the treatment of infantile spasms in the United States. There are few well-designed prospective studies comparing the drug to placebo or other modalities used in the treatment of infantile spasms. The available data have demonstrated that vigabatrin is efficacious in the treatment of infantile spasms regardless of underlying etiology, but that it is particularly beneficial in patients with a diagnosis of tuberous sclerosis. Adrenocorticotropic hormone (ACTH), the only other medication with robust efficacy data, has been used as first line therapy for infantile spasms associated with other etiologies, and in general controls spasms sooner than vigabatrin, though relapse is common with both therapies. Vigabatrin is generally well tolerated. However, use has been associated with permanent loss of peripheral vision in some patients. In children with tuberous sclerosis, vigabatrin should be considered as initial therapy for infantile spasms. It is a viable alternative for patients with suboptimal response, contraindications or intolerance to ACTH. PMID:23861649

  10. The Controversial Role of Food Allergy in Infantile Colic: Evidence and Clinical Management

    PubMed Central

    Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Berni Canani, Roberto

    2015-01-01

    Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow’s proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option. PMID:25808260

  11. Failure to thrive and cognitive development in toddlers with infantile anorexia.

    PubMed

    Chatoor, Irene; Surles, Jaclyn; Ganiban, Jody; Beker, Leila; Paez, Laura McWade; Kerzner, Benny

    2004-05-01

    The goal of this study was to examine the relative contributions of growth deficiency and psychosocial factors to cognitive development in toddlers with infantile anorexia. Eighty-eight toddlers, ranging in age from 12 to 33 months, were enrolled in this study. Toddlers were evaluated by 2 child psychiatrists and placed into 1 of 3 groups: infantile anorexia, picky eater, and healthy eater. All 3 groups were matched for age, race, gender, and socioeconomic status (SES). Toddlers underwent nutritional evaluations and cognitive assessments with the Bayley Scales of Infant Development. Toddlers and their mothers were also videotaped during feeding and play interactions, which later were rated independently by 2 observers. On average, toddlers with infantile anorexia performed within the normal range of cognitive development. However, the Mental Developmental Index (MDI) scores of the healthy eater group (MDI = 110) were significantly higher than those of the infantile anorexia (MDI = 99) and picky eater (MDI = 96) groups. Within the infantile anorexia group, correlations between MDI scores and the toddlers' percentage of ideal body weight approached statistical significance (r =.32). Across all groups, the toddlers' MDI scores were associated with the quality of mother-child interactions, SES level, and maternal education level. Collectively, these variables explained 22% of the variance in MDI scores. This study demonstrated that psychosocial factors, such as mother-toddler interactions, maternal education level, and SES level, are related to the cognitive development of toddlers with feeding problems and explain more unique variance in MDI scores than nutritional status.

  12. [Three infants with constipation and muscular weakness: infantile botulism].

    PubMed

    Thomasse, Y; Arends, J P; van der Heide, P A; Smit, L M E; van Weerden, T W; Fock, J M

    2005-04-09

    Two previously healthy infants, a boy of 10 weeks and a girl of 4 months presented with apathy and muscle weakness. A third previously healthy child, a girl of 6 weeks old was admitted with respiratory insufficiency. None of the three had had a bowel movement for a number of days. After extensive investigations which revealed few abnormalities Clostridium botulinum toxin was obtained in serum from all three children. Type-B-toxin was shown in the faeces of the older girl and boy; both recovered quickly. The other girl had type-A toxin; she died. Two of the three children were given honey to comfort them. Infantile botulism must be considered in every infant with symptoms of constipation and hypotonia. The diagnosis can quickly be confirmed by electromyography with repetitive 50-Hz-stimulation. Honey is a well-known source of the C. botulinum spore and should not be given to children under the age of 12 months. These three children are the first cases to be described in the Netherlands.

  13. Treatment with propranolol for infantile hemangiomas: single-center experience.

    PubMed

    Turhan, Ayşe Bozkurt; Bör, Özcan; Özdemir, Zeynep Canan

    2016-09-01

    Infantile hemangiomas (IHs) are the most common soft tissue tumors of infancy. Although spontaneous regression is expected, medical treatment is needed in approximately 10-20% of cases. We aimed to assess the safety and efficacy of systemic propranolol for the treatment of IH. Medical records of 34 eligible patients were analyzed retrospectively. Treatment indications were local complications (hemorrhage, ulceration) in 38.2% of patients, cosmetic risk and face deformity in 35.3%, life-threatening organ dysfunction in 17.6%, and impending visual impairment in 8.8%. The median age at start of treatment with propranolol was 3.5 months (range, 2-65 months). The median duration of propranolol treatment was 8 months (3-12). Response was graded as excellent (>75% improvement) in 30 patients (88.2%) and good (50-75% improvement) in 3 (8.9%). Recurrence was not observed after termination of treatment. None of our patients showed severe side effects at the beginning of or during the treatment. Propranolol is a well-tolerated, efficacious, and safe drug for treatment of IH. It can be initiated and administered in the outpatient setting. Our report supports the excellent effect and good tolerance of this novel therapy, and we propose the use of propranolol as first-line treatment for IH. © 2016 Wiley Periodicals, Inc.

  14. ED plaster-of-Paris jacket for infantile scoliosis.

    PubMed

    Morin, Christian; Kulkarni, Shrirang

    2014-07-01

    There are various articles published in last few years which consider surgical methods like growing rod instrumentation and modulation of the growth as a "gold standard" for the treatment of early onset severe scoliosis. We emphasize orthopaedic correction with serial casting as another option for such progressive deformity. The key to the success of this treatment is to understand the strategy and the technique involved in the effective casting. The conventional technique of elongation, derotation, flexion cast (named EDF by Cotrel) is described with some modifications like wedging the cast (gypsotomy) in order to produce the flexion component. Serial casting with ED casts for the treatment of progressive idiopathic infantile scoliosis is an effective tool for the benign types of curves (Mehta) and spinal fusion was not necessary in two-third of our cases. Surgical option for treatment of early onset scoliosis is not a "gold standard". Orthopaedic treatment with serial elongation, derotation casts remain the centerpiece of this treatment. Each detail to understand the technique must be known in order to obtain the best result.

  15. Epigenetic regulation of glucocorticoid receptor and infantile spasms.

    PubMed

    Yang, Guang; Zou, Li-Ping; Wang, Jing; Ding, Ying-Xue

    2011-02-01

    IS is one of the few seizure syndromes that can be alleviated by adrenocorticotropic hormone (ACTH) or glucocorticoids (GCs) that are considered effective drugs of choice. This indicates that, indeed, IS may be fundamentally different from most other seizure disorders owing to the dysregulation of the hypothalamic-hypophysial-adrenal axis. GCs have multiple critical effects on fetal development, especially in normal brain development. Most glucocorticoid effects are mediated by the glucocorticoid receptor (GR), a steroid-activated nuclear receptor that translocates to the nucleus upon binding to cortisol. In the nucleus, GR targets genes related to neuronal metabolism and plasticity. The GR has also been characterized as a critical checkpoint in the delicate hormonal control of energy homeostasis. Recent studies suggest a possible correlation between prenatal stress and the onset of infantile spasms. In this paper, we propose a hypothesis that connects the adverse events in early life with the onset of IS through methylation of the GR gene, which is an epigenetic mechanism.

  16. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  17. Signaling pathways in the development of infantile hemangioma

    PubMed Central

    2014-01-01

    Infantile hemangioma (IH), which is the most common tumor in infants, is a benign vascular neoplasm resulting from the abnormal proliferation of endothelial cells and pericytes. For nearly a century, researchers have noted that IH exhibits diverse and often dramatic clinical behaviors. On the one hand, most lesions pose no threat or potential for complication and resolve spontaneously without concern in most children with IH. On the other hand, approximately 10% of IHs are destructive, disfiguring and even vision- or life-threatening. Recent studies have provided some insight into the pathogenesis of these vascular tumors, leading to a better understanding of the biological features of IH and, in particular, indicating that during hemangioma neovascularization, two main pathogenic mechanisms prevail, angiogenesis and vasculogenesis. Both mechanisms have been linked to alterations in several important cellular signaling pathways. These pathways are of interest from a therapeutic perspective because targeting them may help to reverse, delay or prevent hemangioma neovascularization. In this review, we explore some of the major pathways implicated in IH, including the VEGF/VEGFR, Notch, β-adrenergic, Tie2/angiopoietins, PI3K/AKT/mTOR, HIF-α-mediated and PDGF/PDGF-R-β pathways. We focus on the role of these pathways in the pathogenesis of IH, how they are altered and the consequences of these abnormalities. In addition, we review the latest preclinical and clinical data on the rationally designed targeted agents that are now being directed against some of these pathways. PMID:24479731

  18. Characterisation of subpopulations of myeloid cells in infantile haemangioma.

    PubMed

    Tan, Elysia M S; Chudakova, Daria A; Davis, Paul F; Brasch, Helen D; Itinteang, Tinte; Tan, Swee T

    2015-07-01

    Cells expressing markers of mast cells, macrophages and dendritic cells have previously been demonstrated within the interstitium of infantile haemangioma (IH). This study characterised these myeloid cellular subpopulations within IH. Immunohistochemical staining was performed on proliferating and involuted IHs for the expression of Nanog, tryptase, CD163, DC-SIGN and CD45. The presence of mRNA corresponding to Nanog, tryptase α/β-1, tryptase β-2, CD163 and DC-SIGN was confirmed by NanoString and RT-PCR in snap-frozen IH tissues. Immunohistochemical staining showed expression of Nanog by interstitial phenotypical mast cells within proliferating IH, which were separate from the interstitial M2-polarised macrophages that also expressed DC-SIGN, a dendritic cell marker. These two myeloid cellular subpopulations in IH did not express the pan-haematopoietic marker, CD45. There are two interstitial subpopulations of myeloid cells within IH: phenotypical mast cells which also express Nanog, indicating a primitive phenotype; and M2-polarised macrophages which also express DC-SIGN. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  19. Infantile onset diabetes mellitus in developing countries - India.

    PubMed

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India.

  20. Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

    PubMed

    Skalova, Sylva; Cerna, Lucie; Bayer, Milan; Kutilek, Stepan; Konrad, Martin; Schlingmann, Karl-Peter

    2013-03-01

    Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

  1. Infantile seborrheic dermatitis: a pediatric Siddha medicine treatise.

    PubMed

    Thambyayah, Malinee; Amuthan, Arul

    2015-01-01

    Siddha medicine is one of the oldest (5000 years old) well-documented Indian traditional medicines, compared with Ayurveda, Unani, and traditional Chinese medicine, by way of keen observation and experimentation. It mentions 108 diseases that occur in childhood, which are further classified and described into various subtypes based on the clinical features and different stages of a particular disease. The authors translate the elegant and detailed description of one neonatal disorder, infantile seborrheic dermatitis (cradle cap), called kabaala kuttam (KK), described in 17 stanzas of four lines for each stanza from Tamil language script into English. There are five different types of cradle cap, including white type, dark black type, red type, weeping type, and toxic type. Four polyherbal formulations are described for external and oral administration, in which there is mention of 39 herbals and pure sulfur as ingredients. The safety and efficacy of these herbal products varies and has not been fully explored in infants, but may represent options for clinical development.

  2. Prognostic significance of depression occurrence in infantile autism.

    PubMed

    Scifo, R; Calandra, C; Parrinello, M A; Marchetti, B

    1996-11-01

    Autistic children undergoing therapeutic programs, which adopt in our service (USL 3 CT) different theoretical approaches, sometimes show a marked reduction in motor activities, a lowering of tone of voice, physical expression of sadness. We observe that animation is absent in the scene they may draw and colours are no longer used in their drawings. Sleep disturbance may appear or reappearance of enuresis. Many authors consider these symptoms as signs of depression. These changes, even though they create new problems in therapeutic management, are, in our opinion, a very important index of the unblocking of autistic withdrawal and beginning of development of those emotional, relational and cognitive components which seem to be frozen in autistic children and inhibit the birth of the mind, according to the U. Frith Theory. We report in this paper the psychoanalytic, cognitive, systemic, biological viewpoint on the occurrence of depression in infantile autism. We submit three cases of patients being treated in our service with the cognitive-behavioural oriented educational program and pharmacological therapy and discuss the multidimensional approach. The temporary occurrence of depression symptoms may be an index of a change within the resisting autistic balance, which may have a biological basis, but indicates the disorganization of the autistic child's mind in view of further development.

  3. Very long-term recall in infants: infantile amnesia reconsidered.

    PubMed

    McDonough, L; Mandler, J M

    1994-12-01

    Subjects who had participated in a study on non-verbal recall before their first birthday returned to the laboratory one year later and were tested for recall of their previous visit. During their previous visit they had shown recall of both familiar and novel actions on a set of novel objects. However, after a year's delay, evidence for recall was found for the familiar actions only. One action in particular was responsible for this finding: feeding a teddy bear with a schematic bottle. The majority of the returning subjects who had been shown this action repeated it after a year, whereas none of the other returning subjects and few of the subjects in the control groups performed this action. The results indicate that young infants have the ability to recall an event both at 11 months of age and after a delay as long as one year. The finding that infants can recall during a period that later becomes inaccessible to memory is important to our understanding of infantile amnesia.

  4. Treatment of an infantile acne with oral isotretinoin.

    PubMed

    Sarazin, F; Dompmartin, A; Nivot, S; Letessier, D; Leroy, D

    2004-01-01

    We report the case of a little girl who presented with a nodulocystic acne which had its onset at the age of 20 months. She had no clinical or biological features of endocrinopathy. The lesions did not respond to conventional antibiotics so she was started on oral isotretinoin. A seven-month treatment period was necessary to achieve remission. The onset of infantile acne is usually around 6 to 16 months and there is a male predominance. The onset is later in females. Oral erythromycin is the first line treatment when topical therapies are inefficacious. Some cystic lesions do not respond to oral antibiotics. In these cases, oral isotretinoin may be effective and the treatment is similar to that of an adult. Clinical and biological tolerance is good with no growth retardation. Lesions may relapse after the withdrawal of isotretinoin but they are less important and easily controlled with topical treatments. Isotretinoin can be used for nodulocystic acne to reduce the risk of scarring.

  5. Early growth of infantile hemangiomas: what parents' photographs tell us.

    PubMed

    Tollefson, Megha M; Frieden, Ilona J

    2012-08-01

    Infantile hemangiomas (IH) are recognized as growing rapidly during the first months of life, but details of early growth before 3 months of age have not been well-characterized. Our goal was to study early IH growth by using parental photographs of infant children with facial IHs to better understand early hemangioma growth, with the aim of improving guidance for physicians and parents of infants with high-risk IH. Serial images of 30 infants showing IH at intervals of 1 to 2 weeks up to 6 months were analyzed for characteristics of color, thickness, and distortion of anatomic landmarks. The presence or absence of an IH precursor at birth was noted. Mean scores per age interval were compiled. Results were analyzed by using signed rank test. An assessment of "optimal time for referral" was made. IH growth was nonlinear; most rapid growth occurred between 5.5 and 7.5 weeks of age. The mean "optimal age for referral" was 4 weeks of age. Hemangioma precursors were present at birth in 65% of patients. The most rapid hemangioma growth occurs before 8 weeks of age, much earlier than previously appreciated. Specialty evaluation and initiation of treatment, however, typically occur after the age of most rapid growth. Our findings suggest a need for a paradigm shift in the timing of referral and initiation of treatment of high-risk IH so that therapy can be initiated before or early in the course of most rapid growth, rather than after it is already completed.

  6. Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia.

    PubMed

    Engiz, Ozlem; Kara, Semra; Bagrul, Denizhan; Lahr, Georgia; Alioglu, Bulent; Arikan, Inci; Bilge, Yıldız Dallar

    2012-01-01

    Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness, and bone fractures. Children with IMO are at risk of developing hypocalcemia, with attendant tetanic seizures. We report the case of a baby boy who presented with neonatal hypocalcemia. Skeletal radiographs demonstrated sclerotic bones and a dense base of the skull with typical "space alien" face confirming the diagnosis of IMO. Pancytopenia developed at 2 months of age. Visual evoked potential showed severe bilateral optic nerve damage. Genetic mutation study revealed a new mutation in exon 13 of the TCIRG1 gene. Neonatal hypocalcemia can occur as result of IMO, which is easily missed out by clinicians. This causes delay in establishing the diagnosis and starting necessary treatment. Therefore, osteopetrosis should be kept in mind as a rare cause of neonatal hypocalcemia.

  7. Intravenous atropine treatment in infantile hypertrophic pyloric stenosis

    PubMed Central

    Kawahara, H; Imura, K; Nishikawa, M; Yagi, M; Kubota, A

    2002-01-01

    Aims: To assess the efficacy of a new regimen of intravenous atropine treatment for infantile hypertrophic pyloric stenosis (IHPS) with special reference to regression of pyloric hypertrophy. Methods: Atropine was given intravenously at a dose of 0.01 mg/kg six times a day before feeding in 19 patients with IHPS diagnosed from radiographic and ultrasonographic findings. When vomiting ceased and the infants were able to ingest 150 ml/kg/day formula after stepwise increases in feeding volume, they were given 0.02 mg/kg atropine six times a day orally and the dose was decreased stepwise. Results: Of the 19 infants, 17 (89%) ceased projectile vomiting after treatment with intravenous (median seven days) and subsequent oral (median 44 days) atropine administration. The remaining two infants required surgery. No significant complications were encountered. Ultrasonography showed a significant (p < 0.05) decrease in pyloric muscle thickness, but no significant shortening of the pyloric canal after completion of the atropine treatment. The patients exhibited failure to thrive at presentation, but were thriving at 6 months of age (p < 0.01). Conclusions: This atropine therapy resulted in satisfactory clinical recovery. Pyloric muscle thickness was significantly reduced. PMID:12089130

  8. PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

    PubMed Central

    Khateeb, Shareef; Flusser, Hagit; Ofir, Rivka; Shelef, Ilan; Narkis, Ginat; Vardi, Gideon; Shorer, Zamir; Levy, Rachel; Galil, Aharon; Elbedour, Khalil; Birk, Ohad S.

    2006-01-01

    Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated diffuse cerebellar atrophy and abnormal iron deposition in the medial and lateral globus pallidum. Progressive white-matter disease and reduction of the N-acetyl aspartate:chromium ratio were evident on magnetic resonance spectroscopy, suggesting loss of myelination. The clinical and radiological diagnosis of INAD was verified by sural nerve biopsy. The disease gene was mapped to a 1.17-Mb locus on chromosome 22q13.1 (LOD score 4.7 at recombination fraction 0 for SNP rs139897), and an underlying mutation common to both affected families was identified in PLA2G6, the gene encoding phospholipase A2 group VI (cytosolic, calcium-independent). These findings highlight a role of phospholipase in neurodegenerative disorders. PMID:17033970

  9. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

    PubMed

    Nardocci, N; Zorzi, G; Farina, L; Binelli, S; Scaioli, W; Ciano, C; Verga, L; Angelini, L; Savoiardo, M; Bugiani, O

    1999-04-22

    To present clinical, neurophysiologic, and neuroradiologic findings in 13 patients with infantile neuroaxonal dystrophy (INAD), focusing on aspects that assist early diagnosis. Clinicopathologic diagnostic criteria for INAD were delineated by Aicardi and Castelein in 1979, but atypical cases are reported frequently and little is known of the diagnostic utility of MRI. The authors reviewed the clinical, neurophysiologic, and MRI findings of 13 patients who met the diagnostic criteria for INAD. Symptoms onset was between 6 months and 2 years of age. In nine patients the clinical course was typical, with rapid motor and mental deterioration; in four patients progression was slower and the clinical picture was different. Electromyographic (EMG) signs of chronic denervation, fast rhythms on EEG and abnormal visual evoked potentials were observed in all patients during the disease course. Cerebellar atrophy with signal hyperintensity in the cerebellar cortex on T2-weighted images were the most characteristic MRI findings; hypointensity in the pallida and substantia nigra was also observed in two patients. alpha-N-acetyl-galactosaminidase activity on leukocytes was normal in the 10 patients tested. EMG and MRI abnormalities are the earliest and most suggestive signs of INAD, which has a clinical and radiologic spectrum that is broader than reported previously.

  10. Information on infantile colic on the World Wide Web.

    PubMed

    Bailey, Shana D; D'Auria, Jennifer P; Haushalter, Jamie P

    2013-01-01

    The purpose of this study was to explore and describe the type and quality of information on infantile colic that a parent might access on the World Wide Web. Two checklists were used to evaluate the quality indicators of 24 Web sites and the colic-specific content. Fifteen health information Web sites met more of the quality parameters than the nine commercial sites. Eight Web sites included information about colic and infant abuse, with six being health information sites. The colic-specific content on 24 Web sites reflected current issues and controversies; however, the completeness of the information in light of current evidence varied among the Web sites. Strategies to avoid complications of parental stress or infant abuse were not commonly found on the Web sites. Pediatric professionals must guide parents to reliable colic resources that also include emotional support and understanding of infant crying. A best evidence guideline for the United States would eliminate confusion and uncertainty about which colic therapies are safe and effective for parents and professionals. Copyright © 2013 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  11. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  12. Virology of infantile chronic recurrent parotitis in Santiago de Chile.

    PubMed

    Vinagre, Claudia; Martínez, María José; Avendaño, Luis Fidel; Landaeta, Mirta; Pinto, María Eugenia

    2003-07-01

    Infantile chronic recurrent parotitis (ICRP) has been attributed to multiple causes, including viral infections, and therefore its treatment remains empirical. Our aim was to evaluate the involvement of respiratory and oropharyngeal viruses in acute episodes of ICRP. Seventy children were studied, 50 patients and 20 age-matched controls, in a 2-year follow-up study. Saliva samples were taken from the parotid duct and analyzed by viral isolation and immunofluorescence for adenovirus (Ad), respiratory sincitial virus (RSV), parainfluenza virus (PI), influenza virus (Flu), Cytomegalovirus (CMV), and herpes simplex virus (HSV). Paired sera samples were tested by ELISA for anti-Epstein-Barr virus (EBV) IgG and anti-mumps IgM and IgG. Viral infections were detected in 7/50 (14%) cases of the ICRP group: one CMV; 2 Enteroviruses isolated in human embryonic lung fibroblast cells; 1 Flu A; and 3 mumps virus. No EBV seroconversions were detected. In the control group, 2 out of the 20 children had an asymptomatic mumps positive IgM titer. Our data indicate that the main respiratory and oropharyngeal viruses are not the cause of acute episodes of ICRP in Chilean children. Copyright 2003 Wiley-Liss, Inc.

  13. Magnetic resonance imaging in infantile spasms: effects of hormonal therapy.

    PubMed

    Konishi, Y; Yasujima, M; Kuriyama, M; Konishi, K; Hayakawa, K; Fujii, Y; Ishii, Y; Sudo, M

    1992-01-01

    Magnetic resonance imaging (MRI) was performed on five patients with infantile spasms who were treated with relatively low doses of adrenocorticotrophic hormone (ACTH) to study the extent of brain shrinkage induced by ACTH therapy. MRI prior to ACTH therapy revealed periventricular hyperintensity (PVH) areas and poor myelination in four patients. In one case, MRI performed 2 days after initiation of ACTH therapy also showed PVH and poor myelination. Brain shrinkage was observed 2 weeks after initiation of ACTH therapy. The most impressive follow-up finding upon MRI was the decrease in PVH found in four patients. The differentiation between myelinated white matter and surrounding cortex became poorer in three cases. Cortical atrophy progressed in all patients but ventricular dilation progressed in only one patient. At the end of ACTH therapy, ventricular dilation progressed in all cases. These findings suggest that loss of water not only from periventricular white matter but also from cortex is the main etiological factor of brain shrinkage induced by ACTH.

  14. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  15. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000 g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10 mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted.

  16. Poliomyelitis and infantile paralysis: changes in host and virus.

    PubMed

    Wyatt, H V

    1993-01-01

    Death of motor neurones following invasion of the central nervous system by poliovirus may result in paralysis of specific muscles. Virulence may be tested by injection into monkeys by routes which bypass natural infection. Transmissibility is also very important, but cannot be measured, only inferred. An infection may lead to immunity or paralysis. In epidemics, the highest incidence among children 0-2 years was 2% and among those over 10 years was 25%: these figures fit a model of genetic susceptibility of homozygotes and heterozygotes with phenotypic susceptibility increasing with age. Hypogamma-globulinemics, some neonates and pregnant women are more susceptible than others. Intra-muscular injections may increase the risk of paralysis. Strenuous exercise and IM injections given when poliovirus has already reached the spinal cord can increase the severity of paralysis or convert a non-paralytic attack to paralysis. Although vaccines reduced polio in temperate countries, polio was thought to be no problem in the tropics. Since 1977 polio has been recognised as a massive problem in the third world: because it affects babies and very young children, it is properly infantile paralysis.

  17. Oculomotor Neurocircuitry, a Structural Connectivity Study of Infantile Nystagmus Syndrome

    PubMed Central

    Kashou, Nasser H.; Zampini, Angelica R.

    2015-01-01

    Infantile Nystagmus Syndrome (INS) is one of the leading causes of significant vision loss in children and affects about 1 in 1000 to 6000 births. In the present study, we are the first to investigate the structural pathways of patients and controls using diffusion tensor imaging (DTI). Specifically, three female INS patients from the same family were scanned, two sisters and a mother. Six regions of interest (ROIs) were created manually to analyze the number of tracks. Additionally, three ROI masks were analyzed using TBSS (Tract-Based Spatial Statistics). The number of fiber tracks was reduced in INS subjects, compared to normal subjects, by 15.9%, 13.9%, 9.2%, 18.6%, 5.3%, and 2.5% for the pons, cerebellum (right and left), brainstem, cerebrum, and thalamus. Furthermore, TBSS results indicated that the fractional anisotropy (FA) values for the patients were lower in the superior ventral aspects of the pons of the brainstem than in those of the controls. We have identified some brain regions that may be actively involved in INS. These novel findings would be beneficial to the neuroimaging clinical and research community as they will give them new direction in further pursuing neurological studies related to oculomotor function and provide a rational approach to studying INS. PMID:25860806

  18. Neurodevelopmental outcomes in children with Down syndrome and infantile spasms

    PubMed Central

    Tapp, Sarah; Anderson, Tovi; Visootsak, Jeannie

    2015-01-01

    Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1–13%, and infantile spasm (IS) occurs in 6–32% of those with seizures. Since IS is relatively common in children with DS, it is important to understand the impact IS has on the neurodevelopmental outcomes in order to provide appropriate anticipatory guidance to help maximize the potential of these children. Our study is the first to compare the neurodevelopmental outcomes of children with DS and IS (DS + IS) to children with DS and no history of seizures (DS − IS). Using the Bayley Scales of Infant and Toddler Development III, we assessed the neurodevelopment of 29 subjects (eight DS + IS and 21 DS − IS). Neurodevelopmental outcome was poor in the DS + IS cohort, but the delay in treatment does not appear to contribute to any differences in their developmental scores. However, when compared to children with DS − IS, the DS + IS cohort scored approximately 20 points less in all domains including cognitive, motor, and language (P < 0.05). Our results indicate that IS may impact the neurodevelopmental outcomes of children with DS + IS; thus, it is important to provide ongoing developmental and educational assessments and potentially additional therapies for children with DS + IS. PMID:26523121

  19. Quick Phases of Infantile Nystagmus Show the Saccadic Inhibition Effect

    PubMed Central

    Harrison, James J.; Sumner, Petroc; Dunn, Matt J.; Erichsen, Jonathan T.; Freeman, Tom C. A.

    2015-01-01

    Purpose. Infantile nystagmus (IN) is a pathological, involuntary oscillation of the eyes consisting of slow, drifting eye movements interspersed with rapid reorienting quick phases. The extent to which quick phases of IN are programmed similarly to saccadic eye movements remains unknown. We investigated whether IN quick phases exhibit ‘saccadic inhibition,' a phenomenon typically related to normal targeting saccades, in which the initiation of the eye movement is systematically delayed by task-irrelevant visual distractors. Methods. We recorded eye position from 10 observers with early-onset idiopathic nystagmus while task-irrelevant distractor stimuli were flashed along the top and bottom of a large screen at ±10° eccentricity. The latency distributions of quick phases were measured with respect to these distractor flashes. Two additional participants, one with possible albinism and one with fusion maldevelopment nystagmus syndrome, were also tested. Results. All observers showed that a distractor flash delayed the execution of quick phases that would otherwise have occurred approximately 100 ms later, exactly as in the standard saccadic inhibition effect. The delay did not appear to differ between the two main nystagmus types under investigation (idiopathic IN with unidirectional and bidirectional jerk). Conclusions. The presence of the saccadic inhibition effect in IN quick phases is consistent with the idea that quick phases and saccades share a common programming pathway. This could allow quick phases to take on flexible, goal-directed behavior, at odds with the view that IN quick phases are stereotyped, involuntary eye movements. PMID:25670485

  20. The Role of FRMD7 in Idiopathic Infantile Nystagmus.

    PubMed

    Watkins, Rachel J; Thomas, Mervyn G; Talbot, Chris J; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton.

  1. The Role of FRMD7 in Idiopathic Infantile Nystagmus

    PubMed Central

    Watkins, Rachel J.; Thomas, Mervyn G.; Talbot, Chris J.; Gottlob, Irene; Shackleton, Sue

    2012-01-01

    Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50% of X-linked IIN families map to this region. Currently 45 mutations within FRMD7 have been associated with IIN, confirming the importance of FRMD7 in the pathogenesis of the disease. Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. FRMD7 contains a conserved N-terminal FERM domain suggesting that it may provide a link between the plasma membrane and actin cytoskeleton. Limited studies together with the knowledge of the function of other FERM domain containing proteins, suggest that FRMD7 may play a role in membrane extension during neuronal development through remodeling of the actin cytoskeleton. PMID:21904664

  2. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self.

  3. A practical approach for the use of oral isotretinoin for infantile acne.

    PubMed

    Barnes, Cheryl J; Eichenfield, Lawrence F; Lee, Jungho; Cunningham, Bari B

    2005-01-01

    Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts. Successful therapies include topical tretinoin, benzoyl peroxide and topical and oral erythromycin. For more serious cases, oral isotretinoin (Accutane) has been reported to successfully treat recalcitrant infantile cystic acne. We describe two additional patients with infantile cystic acne treated successfully with oral isotretinoin. The dose of isotretinoin used ranged from 0.2 mg/kg/day to 1.5 mg/kg/day. The treatment duration varied from 5 to 14 months. Careful monthly monitoring is recommended because of the many side effects reported with isotretinoin. Practical tips for the administration of oral isotretinoin in infants are reviewed.

  4. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    PubMed

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age.

  5. Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

    PubMed

    Iodice, Alessandro; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Frattini, Daniele; Bertani, Gianna; Bergonzini, Patrizia; Pisani, Francesco; Fusco, Carlo

    2017-02-01

    Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving into spasticity. Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment. Phenotypic spectrum continues to evolve and genotype-phenotype correlations are currently limited. Due to the overlapping phenotypes and heterogeneity of clinical findings characterization of the syndrome is not always achievable. We reviewed the most recent clinical and neuroradiological information in the way to make easier differential diagnosis with other degenerative disorders in the paediatric age. Recognizing subtle signs and symptoms is a fascinating challenge to drive towards better diagnostic and genetic investigations. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  6. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

    PubMed

    Saito, Yoshiaki; Kubota, Masaya; Kurosawa, Kenji; Ichihashi, Izumi; Kaneko, Yuu; Hattori, Ayako; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki

    2011-05-01

    A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

  7. Infantile Hypertrophic Pyloric Stenosis in Postoperative Esophageal Atresia with Tracheoesophageal Fistula.

    PubMed

    R A A, Hassan; Y U, Choo; R, Noraida; I, Rosida

    2015-01-01

    Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences.

  8. The psoas muscle as cause of low back pain in infantile cerebral palsy

    PubMed Central

    Camoriano, R.; Valle, M.; Boero, S.

    2008-01-01

    Psoas muscle spasticity is hypothesised as a rare cause of low back pain in patients with infantile cerebral palsy. The authors describe a new manoeuvre for the study of psoas tenderness and ultrasound (US)-guided transabdominal botulinum toxin injection technique. A possible causal relationship between psoas tension and low back pain was found incidentally in two examined cases. In subsequent patients, botulinum toxin was injected and, in cases of disappearance of symptoms, the psoas tendon was sectioned at the pelvic brim with definitive disappearance of pain. The relationship between psoas tension and low back pain in patients with infantile cerebral palsy seems likely, given the result in the four patients. PMID:19384481

  9. Startle-induced seizures associated with infantile hemiplegia: implication of the supplementary motor area.

    PubMed

    Nolan, Melinda A; Otsubo, Hiroshi; Iida, Koji; Minassian, Berge A

    2005-03-01

    This case illustrates an uncommon form of symptomatic startle-induced epilepsy associated with infantile hemiplegia. Seizure semiology, neuroimaging and neurophysiological findings support involvement of the supplementary motor area in the generation of this seizure type. We present the case of an 11-year-old girl with an uncommon form of startle-induced seizures, illustrated on video-EEG, against the background of left infantile hemiplegia associated with extensive right hemispheric porencephaly but preserved cognitive functioning. The epileptic focus appears to be in the dorsolateral frontal lobe, with seizure semiology involving the supplementary motor cortex.

  10. Sequential sup 123 I-IMP-SPECT in acute infantile hemiplegia

    SciTech Connect

    Shirasaka, Y.; Ito, M.; Okuno, T.; Fujii, T.; Mikawa, H. )

    1989-09-01

    Sequential {sup 123}I-N-isopropyl-p-iodoamphetamine (IMP) single-photon emission computed tomography (SPECT) was performed in 2 patients with acute infantile hemiplegia. In both patients, low uptake of IMP was detected in the targeted abnormal hemisphere. The {sup 123}I-IMP-SPECT findings indicative of a pathologic condition persisted even when the clinical findings and electroencephalographic abnormalities improved. Because of its sensitivity, noninvasiveness, and accurate reflection of the cerebral blood flow distribution, {sup 123}I-IMP-SPECT is useful in the examination of acute infantile hemiplegia and in the evaluation of prognosis.

  11. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

    PubMed

    Sampaio, Mafalda; Rocha, Ruben; Biskup, Saskia; Leão, Miguel

    2015-04-01

    The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.

  12. Asperger syndrome associated with idiopathic infantile nystagmus--a report of 2 cases.

    PubMed

    Kumar, Anil; Sarvananthan, Nagini; Proudlock, Frank; Thomas, Mervyn; Roberts, Eryl; Gottlob, Irene

    2009-01-01

    Asperger syndrome is a severe and chronic developmental disorder. It is closely associated with autism and is grouped under autism spectrum disorder (ASD). Various eye movement abnormalities in AS have been reported in literature such as increased errors and latencies on the antisaccadic task implicating dysfunction of the prefrontal cortex, impairment of the pursuit especially for targets presented in the right visual hemisphere, suggesting disturbance in the left extrastraite cortex. There are no reports in the literature of association between idiopathic infantile nystagmus (IIN) and AS. We report 2 cases of Asperger syndrome associated with idiopathic infantile nystagmus.

  13. The cognitive--affective dilemma in early infantile autism: the case of Clarence.

    PubMed

    DesLauriers, A M

    1978-06-01

    This case study presents long-term follow-up data on Clarence, one of Kanner's original cases of infantile autism. Clarence's attempts to establish a heterosexual relationship and his plans for marriage are described. His success is attributed in part to therapeutic intervention, which was directed at promoting affective responsiveness in the patient. The case of Clarence is seen as lending support to the thesis of DesLauriers and Carlson (1969), who maintain that the core problem in infantile autism is a disturbance of affective contact.

  14. The therapy of infantile malignant brain tumors: current status?

    PubMed

    Kalifa, Chantal; Grill, Jacques

    2005-12-01

    Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20-25% of all malignant brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrome for example who present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment are more severe at this age [2]. Thus, malignant brain tumors represent a true therapeutic challenge in neuro-oncology. Before the era of modern imaging and modern neurosurgery these malignant brain tumors were misdiagnosed or could not benefit of the surgical procedures as well as older children because of increased risks in this age group. Since the end of the 80s, noninvasive imaging procedures produce accurate diagnosis of brain tumors and improvement in neurosurgery, neuroanesthesia and perioperative intensive care permit safe tumor resections or at least biopsies. Consequently, the pediatric oncologists are more often confronted with very young children who need a complementary treatment. Before the development of specific approaches for this age group, these children received the same kind of treatment than the older children did, but their survival and quality of life were significantly worse. The reasons of these poor results were probably due in part to the fear of late effects induced by radiation therapy, leading to decrease the necessary doses of irradiation which increased treatment failures without avoiding treatment related complications [3]. At the end of the 80s, pilot studies were performed using postoperative chemotherapy in young medulloblastoma patients. Van Eys treated 12 selected children with medulloblastoma with MOPP regimen and without irradiation; 8 of them were reported to be long term survivors [4]. Subsequently, the pediatric oncology cooperative groups studies have designed therapeutic trials for very young children with malignant brain tumors

  15. Essential Infantile Esotropia: Postoperative Sensory Outcomes of Strabismus Surgery.

    PubMed

    Magli, Adriano; Carelli, Roberta; Esposito, Francesca; Bruzzese, Dario

    2016-07-01

    The optimum age for Essential Infantile Esotropia surgery is a controversial subject. Sensory status was evaluated in patients who underwent surgery at different ages in a retrospective study. The setting of the study is the ophthalmology department of a teaching hospital. Different clinical characters were analyzed pre- and postoperatively; nine different surgeries were performed. A total of 188 patients presented valid postoperative sensorial data, divided in two groups: surgery at ≤2 years (n=69) or >2 years (n=119). Sensory status was dichotomized in binocular single vision (BSV) and exclusion. Univariate differences were assessed with the chi-square test (or Fisher exact test). To identify the independent role of factors associated with the sensory status, all variables showing in univariate analyses a significant association (p<0.05) with the outcome variable were entered into a multivariate logistic regression model. All statistical tests were two-sided. Multivariate analysis confirmed that children operated >2 years were 0.4 times less likely to obtain BSV compared with children operated at ≤2 years (AOR. 0.38, 95% C.I. 0.17-0.89, p=0.025). Patients operated on by OO MR rec.+ OO LR res. + OO IO rec.-ap. (intervention type 6) were about 11 times more likely to have BSV than those by OO rec.MR + unilateral res. LR (operation type 2); AOR.: 10.67, 95% C.I.: 1.34 - 85.29, p=0.026). Twenty-nine patients (12.1%) operated at ≤2 years of age underwent a reoperation, compared to 33 (8.6%) who underwent surgery after two years (p>0.05). Our findings suggest to perform EIE surgery between age 1 and 2 and, when indicated, to prefer a six-muscle approach in order to achieve a better sensory function.

  16. Infantile immunoglobulin A nephropathy showing features of membranoproliferative glomerulonephritis.

    PubMed

    Kurosu, Akira; Oka, Noriko; Hamaguchi, Takeshi; Yoshikawa, Norishige; Joh, Kensuke

    2012-01-01

    Immunoglobulin A nephropathy (IgAN) showing predominant IgA and complement 3 (C3) deposition on the mesangium is an immune complex-mediated glomerulonephritis. This renal disease is the most common primary glomerular disease worldwide. However, infantile onset of IgAN is rare. In the present patient, urinary protein and occult blood were detected in a girl aged 1 year and 8 months on urinalysis at a nursery school. Despite being young, a kidney biopsy was performed for diagnosis and the correct choice of therapy. Glomerular mesangial cell proliferation and a double contour of the glomerular basement membrane (GBM) resembling a railroad track were noted on light microscopy. Therefore, the patient was diagnosed morphologically with membranoproliferative glomerulonephritis (MPGN), because mesangial hypercellularity and thickening of the GBM were identified. However, on immunofluorescent staining, the deposition of immune complexes mainly consisting of IgA, IgG, and C3 was noted in the mesangial region and glomerular capillary loops. On electron microscopy, electron-dense deposits were recognized in the subendothelial and paramesangial regions associated with mesangial cell interposition into the subendothelial space. Autoimmune diseases and infection-associated secondary glomerulonephritis were clinically excluded, because there were no relevant signs or symptoms. Steroid treatment was initiated and findings of urinalysis were normalized within 8 months. This patient was finally diagnosed with IgA nephropathy showing the features of MPGN. The present patient was the youngest among reported cases of IgA nephropathy, suggesting that early onset of IgAN is associated with an MPGN-like lesion. The present report provides information for pathogenesis of IgA nephropathy.

  17. Masterly inactivity in infantile haemangioma: Does it still hold relevance?

    PubMed

    Sharma, Nitin; Bajpai, Minu; Verma, Ajay; Panda, Shasanka Shekhar; Singh, Amit K

    2015-01-01

    Haemangiomas are a source of concern to the parents. It has long been advised to plan a conservative management and counsel the attendants in various literatures owing to the spontaneous regression in these cases. We tried to find out the role of conservative management in our setup. The objective of this study was to assess the effect of conservative management in infantile haemangiomas. This was a retrospective study from January 2001 to December 2012 including infants with haemangioma in low risk locations. Patients were evaluated at periodic intervals for regression and complications. Interventions done were surgical excision/ cauterisation in cases presenting with complications in the form of bleed or severe ulceration or in residual lesion not responding to the conservative management. A total of 104 cases were included. Mean age of the cases at presentation was 32 weeks (range: 6-48 weeks). Mean follow-up was 48 months (range: 9-68 months). Average lesion size at the time of presentation was 4.2 ± 0.5 cm 2 and the average lesion size at last presentation was 1.8 ± 0.5 cm 2 . A total of 28 cases presented with complications as bleed, ulceration. These cases were located at extremities and were managed by excision in 13 cases and cauterisation in 15 cases. 13 cases presented with rapid proliferation. Thus, 41 (39.4%) cases presented with complications or rapid progression. Complete regression was seen in 49 cases and remaining 14 (22.2%) cases had some residual lesion. Conservative management should be offered only to very small lesions located at concealed sites. Lesions located at extremities and exposed sites should not be considered for conservative management.

  18. Intralesional injection of diprospan is effective for infantile hemangioma.

    PubMed

    Yuan, Si-Ming; Zhang, Min; Guo, Yao; Cui, Lei; Hong, Zhi-Jian; Jiang, Hui-Qing

    2015-03-01

    The use of glucocorticoid in infantile hemangioma has remained the main stream for over 30 years. Intralesional corticosteroids got good effects in small-size hemangioma. Here, we introduce a new compound glucocorticoids preparation, Diprospan. Diprospan 1 mL/ampoule contains betamethasone disodium phosphate 2 mg and betamethasone dipropionate 5 mg. It is the combination of short-acting and long-acting components. From January 2005 to December 2013, 57 children with hemangioma were enrolled into this study. The area of tumor ranged from 1 cm to 60 cm. The average age of them receiving the first treatment was 3.9 months. The compound betamethasone preparation was given directly into the lesion at multiple sites along the edge and in the center of tumor. The dosage ranged from 3.5 mg to 14 mg glucocorticoids. In the follow-up, the treatment could be repeated if the tumor tended to grow again. Nineteen patients received the treatment once, 35 patients twice, and 3 patients thrice. At the end of follow-up, 80.7% (46/57) of the patients' tumors involuted completely. Moreover, 15.8% (9/57) of the patients' tumors shrank but did not involute completely. Also, 3.5% (2/57) of the patients' tumors showed no obvious change and so switched to systemic propranolol treatment. The adverse effects included local atrophy in 3 patients, local ulcer in 2 patients, and Cushing-like manifestations in 2 patients, all of which recovered in a short period. Intralesional compound betamethasone preparation is a feasible choice for the small-size hemangioma. For a few of the patients who had no response to it, other treatments including oral propranolol should be adopted in time.

  19. MRI Verification of a Case of Huge Infantile Rhabdomyoma

    PubMed Central

    Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

    2016-01-01

    Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

  20. Propranolol targets the contractility of infantile haemangioma-derived pericytes.

    PubMed

    Lee, D; Boscolo, E; Durham, J T; Mulliken, J B; Herman, I M; Bischoff, J

    2014-11-01

    Propranolol, a β-adrenergic receptor (AR) antagonist, is an effective treatment for endangering infantile haemangioma (IH). Dramatic fading of cutaneous colour is often seen a short time after initiating propranolol therapy, with accelerated regression of IH blood vessels discerned after weeks to months. To assess a possible role for haemangioma-derived pericytes (HemPericytes) isolated from proliferating and involuting phase tumours in apparent propranolol-induced vasoconstriction. HemPericytes were assayed for contractility on a deformable silicone substrate: propranolol (10 μmol L(-1)) restored basal contractile levels in HemPericytes that were relaxed with the AR agonist epinephrine. Small interfering RNA knockdown of β2-AR blunted this response. HemPericytes and haemangioma-derived endothelial cells were co-implanted subcutaneously in nude mice to form blood vessels; at day 7 after injection, mice were randomized into vehicle and propranolol-treated groups. HemPericytes expressed high levels of β2-AR mRNA compared with positive control bladder smooth muscle cells. In addition, β2-AR mRNA levels were relatively high in IH specimens (n = 15) compared with β1-AR, β3-AR and α1b-AR. Normal human retinal and placental pericytes were not affected by epinephrine or propranolol in this assay. Propranolol (10 μmol L(-1)) inhibited the proliferation of HemPericytes in vitro, as well as normal pericytes, indicating a nonselective effect in this assay. Contrast-enhanced microultrasonography of the implants after 7 days of treatment showed significantly decreased vascular volume in propranolol-treated animals, but no reduction in vehicle-treated animals. These findings suggest that the mechanism of propranolol's effect on proliferating IH involves increased pericytic contractility. © 2014 British Association of Dermatologists.

  1. Propranolol Targets Contractility of Infantile Hemangioma-derived Pericytes

    PubMed Central

    Lee, D.; Boscolo, E.; Durham, J.T.; Mulliken, J.B.; Herman, I.M.; Bischoff, J.

    2014-01-01

    Propranolol, a β-adrenergic receptor (AR) antagonist, was discovered serendipitously to be an effective treatment for endangering infantile hemangioma (IH). Dramatic fading of cutaneous color is often seen a short time after initiating propranolol therapy, with accelerated regression of IH blood vessels discerned after weeks to months. Here we focus on hemangioma-derived pericytes (HemPericytes) isolated from proliferating and involuting phase tumors to assess a possible role for these cells in the apparent propranolol-induced vasoconstriction. HemPericytes express high levels of β2 AR mRNA, compared to positive control bladder smooth muscle cells. In addition, β2 AR mRNA levels were relatively high in IH specimens (n=15) compared to β1 AR, β3 AR and α1bAR. HemPericytes were assayed for contractility on a deformable silicone substrate: propranolol (10μM) restored basal contractile levels in HemPericytes that were relaxed with the AR agonist epinephrine. siRNA knockdown β2 AR blunted this response. Normal human retinal and placental pericytes were not affected by epinephrine or propranolol in this assay. Propranolol (10μM) inhibited proliferation of HemPericytes in vitro, as well as normal pericytes, indicating a non-selective effect in this assay. HemPericytes and HemEC were co-implanted subcutaneously in nude mice to form blood vessels, and at day 7 after injection, mice were randomized into vehicle and propranolol treated groups. Contrast-enhanced micro-ultrasonography of the implants after 7 days of treatment showed significantly decreased vascular volume in propranolol-treated animals, but no reduction in vehicle-treated animals. These findings suggest that the mechanism of propranolol's effect on proliferating IH involves increased pericytic contractility. PMID:24720697

  2. Rebound Growth of Infantile Hemangiomas After Propranolol Therapy.

    PubMed

    Shah, Sonal D; Baselga, Eulalia; McCuaig, Catherine; Pope, Elena; Coulie, Julien; Boon, Laurence M; Garzon, Maria C; Haggstrom, Anita N; Adams, Denise; Drolet, Beth A; Newell, Brandon D; Powell, Julie; García-Romero, Maria Teresa; Chute, Carol; Roe, Esther; Siegel, Dawn H; Grimes, Barbara; Frieden, Ilona J

    2016-04-01

    Propranolol is first-line therapy for problematic infantile hemangiomas (IHs). Rebound growth after propranolol discontinuation is noted in 19% to 25% of patients. Predictive factors for rebound are not completely understood and may alter the management approach. The goal of the study was to describe a cohort of patients with IHs treated with propranolol and to identify predictors for rebound growth. A multicenter retrospective cohort study was conducted in patients with IHs treated with propranolol. Patient demographic characteristics, IH characteristics, and specifics of propranolol therapy were obtained. Episodes of rebound growth were recorded. Patients' responses to propranolol were evaluated through a visual analog scale. A total of 997 patients were enrolled. The incidence of rebound growth was 231 of 912 patients (25.3%). Mean age at initial rebound was 17.1 months. The odds of rebound among those who discontinued therapy at <9 months was 2.4 (odds ratio [OR]: 2.4; 95% confidence interval [CI]: 1.3 to 4.5; P = .004) compared with those who discontinued therapy between 12 to 15 months of life. Female gender, location on head and neck, segmental pattern, and deep or mixed skin involvement were associated with rebound on univariate analysis. With multivariate analysis, only deep IHs (OR: 3.3; 95% CI: 1.9 to 6.0; P < .001) and female gender (OR: 1.7; 95% CI: 1.1 to 2.6; P = .03) were associated. Of those with rebound growth, 83% required therapeutic modification including 62% of patients with modifications in their propranolol therapy. Rebound growth occurred in 25% of patients, requiring modification of systemic therapy in 15%. Predictive factors for rebound growth included age of discontinuation, deep IH component, and female gender. Patients with these predictive factors may require a prolonged course of therapy. Copyright © 2016 by the American Academy of Pediatrics.

  3. MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

    PubMed Central

    Baker, Eva H.; Levin, Sondra W.; Zhang, Zhongjian; Mukherjee, Anil B.

    2016-01-01

    Background Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase-1 (PPT1) deficiency. PPT1 deficiency impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood demise. As part of a project studying treatment benefits of a combination of cysteamine bitartrate and N-acetylcysteine, we made serial measurements of patients’ brain volumes using MRI. Methods Ten INCL patients participating in a treatment/follow-up study underwent brain MRI that included high resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brainstem, and thalamus. Patients’ brain volumes were compared to those of a normal population. Results Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss, and may never have been normal postnatally. The thalamus dropped out of the normal range around age 6 months, cerebellum around age 2 years, and brainstem around age 3 years. Discussion Rapid cerebral volume loss was expected based upon previous qualitative reports. Because our study did not include a non-treatment arm, and because progression of brain volumes in INCL has not previously been quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions. PMID:27765741

  4. Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms.

    PubMed

    Liu, Xiao-Ming; Li, Rui; Chen, Sheng-Zhi; Sang, Yan; Chen, Jiao; Fan, Cong-Hai

    2015-05-01

    The objective of this study is to explore the incidence of inherited metabolic disorders (IMD) in infants with infantile spasms (IS), with an attempt to improve the early diagnosis and etiological and symptomatic treatment. Urine and blood samples were collected from 60 IS patients and analyzed for the quantification of amino acids, organic acids, and fatty acids by gas chromatography-mass spectrometry and tandem mass spectrum. Routine urine tests, hepatic function tests, blood biochemistry, brain imaging, as well as examinations of the brain stem auditory/visual evoked potentials were also examined. In addition to antiepileptic therapy, etiological and symptomatic treatments were also conducted in infants with confirmed IMD and the follow-up lasted for 6 months in these pediatric patients. Metabolic disorders were found in 28 (46.67 %) of 60 IS infants, among them 13 (21.67 %) were confirmed to be with IMD. Twelve of these 13 IS patients with definite IMD diagnoses (92.31 %) experienced varying degrees of delayed development of intelligence and motor function, 8 patients (61.54 %) had abnormal cranial CT or MRI findings, 11 patients (84.61 %) had abnormal brain stem evoked potentials, 4 patients (30.77 %) had abnormal hepatic functions, 3 patients (23.07 %) had abnormal blood biochemistry, 2 patients (15.38 %) had positive (+ to ++) results for routine urine ketones, and 2 patients (15.38 %) had skin lesions. After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. IMD is a key biological cause in IS. Early screening for IMD is warranted in IS infants to facilitate the improvement for the prognosis and an early etiological treatment.

  5. Pharmacological therapies for infantile hemangiomas: A clinical study in 853 consecutive patients using a standard treatment algorithm.

    PubMed

    Zhang, Ling; Yuan, Wei-En; Zheng, Jia-Wei

    2016-02-15

    Infantile hemangiomas are the most common infantile benign vascular tumor. While most infantile hemangiomas proliferate then involute, some may persist and require treatment for reasons including risk of disfigurement or functional impairment. Treatments currently include observation, pharmacological therapy, laser, cryosurgery, surgery and radiotherapy. Although pharmacological therapy is a well accepted treatment option, limited studies have evaluated the efficacy of different drug therapies. In this study, we compare different pharmacological modalities in the management of infantile hemangiomas. The study included 853 infants with proliferative infantile hemangiomas who were treated with topical timolol, oral propranolol, intralesional pingyangmycin, or intravenous vincristine from 2009 to 2012. Treatment stratification was based on clinical severity of the tumor. Response to the treatment was clinically evaluated and graded as: excellent, good, poor, or no response. Response to pharmacological therapies was excellent in almost all infantile hemangiomas. In addition, patients younger than 8 months responded highly to pharmacological treatment (89.1%), while patients older than 8 months were less responsive to treatment (36.3%). There were no instances of life-threatening complications. Overall, these findings support the efficacy of timolol, propranolol, pingyangmycin and vincristine in the treatment of infantile hemangiomas, especially in the youngest patient cohort (8 months or younger).

  6. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of β-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors.

  7. [Infantile pyknocytosis: A cause of noenatal hemolytic anemia. Is recombinant erythropoietin an alternative to transfusion?].

    PubMed

    Bagou, M; Rolland, E; Gay, C; Patural, H

    2016-01-01

    Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3 years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3 months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level.

  8. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  9. Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

    ERIC Educational Resources Information Center

    Peterson, Carole; Warren, Kelly L.; Short, Megan M.

    2011-01-01

    Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

  10. Use of propranolol in infantile haemangiomas: report of five cases and review of the literature

    PubMed Central

    Gidaris, D; Economou, M; Hatzidemetriou, V; Gombakis, N; Athanassiou - Metaxa, M

    2011-01-01

    Infantile haemangiomas are common benign tumours that do not require treatment unless they cause significant functional impairment or disfigurement. We report our experience with the off-label use of propranolol in 5 children with haemangiomas and review the relevant literature. PMID:21607042

  11. SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.

    PubMed

    Wong, Virginia C N; Fung, C W; Kwong, Anna K Y

    2015-08-01

    Mutation of SCN2A, encoding for voltage-gated sodium channel type II alpha subunit, has been demonstrated in various epilepsy phenotypes, ranging from benign to severe epileptic disorders and recently this had been reported for cases with infantile spasm (IS). We study a 6 years-old Chinese boy with severe developmental delay who had infantile spasm since 15 months. He later had severe intellectual disability and autistic features. He failed to respond to most anticonvulsants. Modified Atkins Diet was introduced at 4 years of age and he showed a seizure remission for 12 months with only 1 anticonvulsants. To clarify the unknown etiology, mutations were screened for genes associated with brain development or synaptic function. A heterozygous mutation (c.3631G>A; p.E1211K) was identified in exon 21 of SCN2A gene. This mutation has been reported previously only in a Japanese patient with IS. This is the first case of SCN2A mutation identified in Chinese. Similarity of our case and one Japanese case of infantile spasm indicated that this E1211K mutation is important as possible etiology of IS. Trial of Modified Atkins Diet for other cases of infantile spasm with similar SCN2A mutations is worthwhile pursuing. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  12. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    PubMed Central

    Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi

    2015-01-01

    The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal activity are yet unknown. We searched whole exome sequencing data of a total of 437 patients with infantile epilepsy, and found novel de novo heterozygous missense KCNB1 mutations in two patients showing psychomotor developmental delay and severe infantile generalized seizures with high-amplitude spike-and-wave electroencephalogram discharges. The mutation located in the channel voltage sensor (p.R306C) disrupted sensitivity and cooperativity of the sensor, while the mutation in the channel pore domain (p.G401R) selectively abolished endogenous Kv2 currents in transfected pyramidal neurons, indicating a dominant-negative effect. Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. Thus KCNB1 mutations can be a rare genetic cause of infantile epilepsy, and insufficient firing of pyramidal neurons would disturb both development and stability of neuronal circuits, leading to the disease phenotypes. PMID:26477325

  13. Negative pressure wound therapy in the treatment of ulcerated infantile haemangioma.

    PubMed

    Fox, Carly M; Johnson, Bethan; Storey, Kristen; Das Gupta, Romi; Kimble, Roy

    2015-07-01

    Infantile haemangioma is a common benign tumour of infancy. Ulceration is the most common complication and is often painful and difficult to treat. Propranolol therapy is widely used to induce involution in rapidly growing or ulcerated lesions, or those in anatomically awkward locations. The ideal dressing regimen for these lesions would provide effective analgesia, act as a wound dressing, and aid involution of the primary lesion. To date, no ideal regimen has been established. Negative pressure wound therapy (NPWT) has been used in adult and paediatric populations to help improve wound healing in a variety of settings. It may provide a useful alternative to traditional dressing regimens in ulcerated infantile haemangioma. Six consecutive patients with ulcerating infantile haemangioma presenting to the Royal Children's Hospital vascular anomalies clinic were included in the study. Each patient was treated with a combination of NPWT and propranolol. Outcomes including time to wound healing, perceived ease of dressing management, and analgesia were recorded. Complete wound healing was obtained in all cases. Patient outcomes in terms of analgesia, comfort, and ease of wound dressing were improved following application of NPWT. We propose that this regimen represents a novel therapy for management of ulcerated infantile haemangioma. Possible mechanisms for healing effect, and improved analgesia are discussed. Further investigation is required to determine if negative pressure wound therapy results in faster healing times compared to traditional dressing regimens.

  14. Epidemiology of Infantile Autism in Southern Ibaraki, Japan: Differences in Prevalence in Birth Cohorts.

    ERIC Educational Resources Information Center

    Tanoue, Yoko; And Others

    1988-01-01

    Based on an observational study of children (ages 3-7) screened at a child guidance center in Japan, the prevalence rate of infantile autism in each one-year birth cohort (1972-1978) fluctuated in a four-year cycle which was closely correlated with the number of children hospitalized with lower respiratory tract diseases. (JW)

  15. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  16. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  17. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  18. Body Mass Index in Male and Female Children with Infantile Autism.

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2002-01-01

    This study compared the body mass index (BMI) of 118 children with infantile autism with corresponding BMI percentiles in age-and sex-matched reference populations. The BMI distribution of the male children was significantly lower than that of the age-matched reference population. BMI was not associated with intelligence or socioeconomic status.…

  19. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.

    PubMed

    Herbst, S M; Schirmer, S; Posovszky, C; Jochum, F; Rödl, T; Schroeder, J A; Barth, T F; Hehr, U; Melter, M; Vermehren, J

    2015-10-01

    Identifying rare genetic forms of infantile cholestasis is challenging due to their similar clinical presentation and their diverse etiology. After exclusion of common non-genetic causes a huge list of rare differential diagnosis remains to be solved. More than 90 genes are associated with monogenic forms of infantile cholestasis, thus preventing routine genetic workup by Sanger sequencing. Here we demonstrate a next generation sequencing approach to discover the underlying cause in clinically well characterized patients in whom common causes of infantile cholestasis have been excluded. After validation of the analytical sensitivity massive parallel sequencing was performed for 93 genes in six prospectively studied patients. Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach. Three exemplary clinical cases of infants with cholestasis are presented and discussed in the context of their genetic and histopathological findings (autosomal recessive polycystic kidney disease, atypical PFIC and Niemann-Pick syndrome type C1). These case reports highlight the critical impact of integrating clinical, histopathological and genetic data during the process of multi gene panel testing to ultimately pinpoint rare genetic diagnoses.

  20. Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

    ERIC Educational Resources Information Center

    Peterson, Carole; Warren, Kelly L.; Short, Megan M.

    2011-01-01

    Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

  1. XXY: The Hidden Disability and a Prototype for an Infantile Presentation of Developmental Dyspraxia (IDD).

    ERIC Educational Resources Information Center

    Samango-Sprouse, Carole; Rogol, Alan

    2002-01-01

    There is an increased incidence of language-learning disabilities with dyslexia by school age. As infants and toddlers, these children have neuromotor and speech dysfunction within their first year. This article postulates that the language and motor dysfunction is caused by infantile presentation of developmental dyspraxia rather than a…

  2. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  3. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  4. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  5. On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.

    ERIC Educational Resources Information Center

    Mahler, Margaret S.

    The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

  6. Early Childhood Psychosis: Infantile Autism, Childhood Schizophrenia and Related Disorders. An Annotated Bibliography 1964 to 1969.

    ERIC Educational Resources Information Center

    Bryson, Carolyn Q.; Hingtgen, Joseph N.

    The annotated bibliography on early childhood psychosis (infantile autism, childhood schizophrenia, and related disorders) contains 424 entries (books, journal articles, conference and research reports) dating from 1964 through the first 6 months of 1970, which pertain to theory, research, and treatment. Number of entries for each subject is noted…

  7. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  8. Facilitating Internal Regulation of Eating: A Treatment Model for Infantile Anorexia.

    ERIC Educational Resources Information Center

    Chatoor, Irene; And Others

    1997-01-01

    A study of 20 toddlers with infantile anorexia tested a therapeutic intervention that helps parents understand and deal with the infant's temperament, addresses the difficulties the parents may have in setting limits, and provides parents with recommendations on how to structure meal times in order to facilitate internal regulation of eating.…

  9. XXY: The Hidden Disability and a Prototype for an Infantile Presentation of Developmental Dyspraxia (IDD).

    ERIC Educational Resources Information Center

    Samango-Sprouse, Carole; Rogol, Alan

    2002-01-01

    There is an increased incidence of language-learning disabilities with dyslexia by school age. As infants and toddlers, these children have neuromotor and speech dysfunction within their first year. This article postulates that the language and motor dysfunction is caused by infantile presentation of developmental dyspraxia rather than a…

  10. Infantile Autism. A Clinical and Phenomenological-Anthropological Investigation Taking Language as the Guide.

    ERIC Educational Resources Information Center

    Bosch, Gerhard

    A clinical and phenomenological-anthropological investigation taking language as the guide, the study of infantile autism concentrates upon an analysis of the idiosyncratic language of autistic children and of what is revealed by the way they use it. Following the presentation of very detailed case histories of five of the autistic children…

  11. [Prerequisites to the use of multichannel programmed muscle electrostimulation in patients with infantile cerebral palsy].

    PubMed

    Dotsenko, V I; Zhuravlev, A M; Esiutin, A A; Zuev, S L; Demin, P P; Markov, A A; Prokhorov, E V

    2002-01-01

    The paper deals with the use of multichannel programmed electrostimulation of muscles or artificial correction of movements to treat patients with infantile cerebral paralysis. This electrostimulation is a highly effective technique for correction of a pathological human motor stereotype and serves to consolidate the physiological movement patterns simulated during treatment sessions.

  12. Transient brain shrinkage in infantile spasms after ACTH treatment. Report of two cases.

    PubMed

    Maekawa, K; Ohta, H; Tamai, I

    1980-02-01

    This is the report of two cases of infantile spasms, manifesting transient brain shrinkage in computerized tomography (CT) after ACTH treatment. ACTH was given for 8 weeks to a 8-months-old Japanese girl with infantile spasms. First CT performed at 2 weeks after the final ACTH injection, displayed moderate brain shrinkage. Second CT at 4 months showed marked diminution of the shrinkage. ACTH was also given for 8 weeks to a 14 months old Japanese boy with infantile spasms. First CT, just before ACTH treatment, showed mild cortical atrophy, the second at 7 days after the final ACTH injection revealed marked brain shrinkage and moderate ventricular dilatation, and the third at 2 months, disclosed mild improvement of the shrinkage. ACTH or corticoateroid has widespread effects on the developing nervous system. In animal experiments, ACTH or steroids interfere with brain growth of young rats. CT findings of transient brain shrinkage in a child with infantile spasms might suggest that intensive treatment with ACTH or steroids in infancy interferes with brain growth as seen in the results of animal experiments.

  13. Two infants with infantile spasms associated with vitamin B12 deficiency.

    PubMed

    Malbora, Baris; Yuksel, Deniz; Aksoy, Ayse; Ozkan, Mehpare

    2014-07-01

    In developing countries, nutritional vitamin B12 deficiency in infants because of maternal deficiency often causes hematological and neurological disorders. However, epilepsy is a rare manifestation of vitamin B12 deficiency. The biological basis for the observed neurological symptoms of infantile vitamin B12 deficiency remains uncertain. There are only a few reports in the English literature regarding the relationship between infantile spasms and vitamin B12 deficiency. We report two unrelated infants having infantile spasms associated with vitamin B12 deficiency related to maternal nutritional deficiency. During the first month of adrenocorticotropic hormone (ACTH), phenobarbital, and vitamin B12 treatments, both infants' abnormalities resolved. After 3 months, electroencephaography was completely normal. ACTH and phenobarbital treatments were ended. The children are disease-free 9 months after the treatment. We suggest that vitamin B12 deficiency should be considered in the differential diagnosis of infantile spasms as a treatable cause, especially with a history of maternal nutritional deficiency. Copyright © 2014 Elsevier Inc. All rights reserved.

  14. Infantile Amnesia: A Critical Period of Learning to Learn and Remember.

    PubMed

    Alberini, Cristina M; Travaglia, Alessio

    2017-06-14

    Infantile amnesia, the inability of adults to recollect early episodic memories, is associated with the rapid forgetting that occurs in childhood. It has been suggested that infantile amnesia is due to the underdevelopment of the infant brain, which would preclude memory consolidation, or to deficits in memory retrieval. Although early memories are inaccessible to adults, early-life events, such as neglect or aversive experiences, can greatly impact adult behavior and may predispose individuals to various psychopathologies. It remains unclear how a brain that rapidly forgets, or is not yet able to form long-term memories, can exert such a long-lasting and important influence. Here, with a particular focus on the hippocampal memory system, we review the literature and discuss new evidence obtained in rats that illuminates the paradox of infantile amnesia. We propose that infantile amnesia reflects a developmental critical period during which the learning system is learning how to learn and remember. Copyright © 2017 the authors 0270-6474/17/375783-13$15.00/0.

  15. Positron emission tomography findings in children with infantile spasms and autism.

    PubMed

    Dilber, Cengiz; Calışkan, Mine; Sönmezoğlu, Kerim; Nişli, Serap; Mukaddes, Nahit Motavalli; Tatlı, Burak; Aydınlı, Nur; Ekici, Barış; Özmen, Meral

    2013-03-01

    The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3 years and 16 years (7.8 ± 4 years), while the mean follow-up time (±SE) varied between 2 years and 16 years (average: 7.1 ± 4 years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p=0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p<0.001), nine (60%) had significantly decreased activity in the frontal lobe (p=0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p=0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms.

  16. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  17. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  18. Incidence of distal femoral and distal tibial deformities in infantile and adolescent blount disease.

    PubMed

    Myers, Thomas G; Fishman, Michael K; McCarthy, James J; Davidson, Richard S; Gaughan, John

    2005-01-01

    The purpose of this study was to assess distal femoral and tibial deformity in patients with infantile and adolescent Blount disease. This was a retrospective review of patients at the authors' institution diagnosed with Blount disease. Thirty-eight patients (21 in the infantile group and 17 in the adolescent group) met the study criteria. Measurements of the anatomic lateral distal femoral angle (aLDFA), anatomic lateral distal tibial angle (aLDTA), and tibiofemoral angle (TFA) were made from long-leg radiographs. The results of the infantile and adolescent measurements were compared with each other and to a normal database. Intraobserver and interobserver error was determined. The adolescent aLDFA measurements were significantly greater (more varus) than for the infantile group and normal database. The aLDTA (ankle) measurements were not statistically different between the two groups, or from the normal database. Analysis of both intraobserver and interobserver error for the aLDFA and aLDTA showed good reliability.

  19. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  20. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.

    PubMed

    Case, Laura E; Beckemeyer, Alexandra A; Kishnani, Priya S

    2012-02-15

    Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen storage disease type II, GSDII, or acid maltase deficiency). Children with infantile Pompe disease are surviving beyond infancy, some achieving independent walking and functional levels never before possible. Individuals with late-onset Pompe disease are experiencing motor and respiratory improvement and/or stabilization with slower progression of impairments. A new phenotype is emerging for those with infantile Pompe disease treated with ERT. This new phenotype appears to be distinct from the late-onset phenotype rather than a shift from infantile to late-onset phenotype that might be expected from a simple diminution of symptoms with ERT. Questions arise regarding the etiology of the distinct distribution of weakness in this new phenotype, with increasing questions regarding exercise and musculoskeletal management. Answers require an increased understanding of the muscle pathology in Pompe disease, how that muscle pathology may be impacted by ERT, and the potential impact of, and need for, other clinical interventions. This article reviews the current state of knowledge regarding the pathology of muscle involvement in Pompe disease and the potential change in muscle pathology with ERT; the newly emerging musculoskeletal and gross motor phenotype of infantile Pompe disease treated with ERT; updated recommendations regarding musculoskeletal management in Pompe disease, particularly in children now surviving longer with residual weakness impacting development and integrity of the musculoskeletal system; and the potential impact and role of exercise in infantile Pompe survivors treated with ERT. Copyright © 2012 Wiley Periodicals, Inc.

  1. Oral propranolol therapy for infantile hemangiomas beyond the proliferation phase: a multicenter retrospective study.

    PubMed

    Zvulunov, Alex; McCuaig, Catherine; Frieden, Ilona J; Mancini, Anthony J; Puttgen, Kate B; Dohil, Magdalene; Fischer, Gayle; Powell, Julie; Cohen, Bernard; Ben Amitai, Dan

    2011-01-01

    Pharmacological therapies for infantile hemangiomas were considered effective only during the proliferative phases. Recently reported beneficial effects of propranolol may extend beyond the proliferative phase of infantile hemangiomas. The purpose of the study was to assess the effect of oral propranolol therapy for infantile hemangiomas beyond the proliferative phase of these lesions. Members of the Society for Pediatric Dermatology were invited to participate in a multicenter retrospective study. Only children with infantile hemangiomas with documented cessation of lesions' growth or those older than 12 months of age were eligible for the study. Clinical and demographic information and digital photographs before, at the start, and following the treatment were collected. Scaled panels of photographs were distributed among preselected experienced pediatric dermatologists. Visual analog scale was used to assess photographs for each case. Paired t-test was used for statistical analyses. Data on 49 eligible patients from eight pediatric dermatology centers was collected. Seven cases were excluded because of insufficient photographic documentation. The age of the patients at the start of propranolol therapy ranged 7 to 120 months (mean 28 mos, median 22 mos). The duration of propranolol therapy ranged 1 to 8 months (mean 3.6 mos). The mean visual analog scale score before the treatment was 6.8 ± 2.15, and mean reduction in the visual analog scale score at the assessment was 2.6 ± 1.74 (p < 0.001). The rate of visual analog scale reduction was 0.4 per month before the start of the therapy, while this rate was accelerated to 0.9 per months following the therapy (p < 0.001). No significant side effects were reported. We conclude that propranolol is effective in infantile hemangiomas, including post-proliferative phase, and should be considered as the first-line therapy in that setting.

  2. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

    PubMed

    Kohlschütter, Alfried; Schulz, Angela

    2016-06-01

    CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness. The classical late infantile type begins at around three years of age with epilepsy and/or a standstill of psychomotor development, followed by a rapid loss of all abilities and death in childhood. A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterioration. The deficiency of TPP1 causes the lysosomal accumulation of a material called ceroid lipofuscin. The natural substrate of TPP1 is not known, nor is the connection between storage process and neurodegeneration, which is characterized by loss of neurons. Among various experimental approaches to treatment, enzyme replacement therapy (ERT) and gene therapy have developed remarkably. Enzyme delivery through the cerebrospinal fluid led to wide distribution of enzyme activity in the brain and to attenuated neuropathology and disease progression in a TPP1-deficient mouse model as well as in a natural TPP1-deficient dog model. Safety of the intrathecal delivery, pharmacokinetics, and tissue distribution of the administered enzyme studied in non-human primates were encouraging, and a phase I/II clinical trial for intraventricular ERT in CLN2 patients is ongoing. A second approach uses intracerebral injection of viral vectors containing normal coding segments of the CLN2 gene. In a CLN2 mouse model, this procedure resulted in cerebral enzyme expression, reduced brain pathology and increased survival. A small number of patients have been treated the same way using an AAV2-vector for gene transfer to the brain. Although there were no serious adverse events unequivocally attributable to the vector used, there were

  3. Low-dose propranolol regimen for infantile haemangioma.

    PubMed

    Tan, Cherise Es; Itinteang, Tinte; Leadbitter, Philip; Marsh, Reginald; Tan, Swee T

    2015-04-01

    Propranolol, now the preferred treatment for problematic proliferating infantile haemangioma (IH), at an empirical cardiovascular dosage of 2-3 mg/kg/day is associated with variable complication rates. A meta-analysis shows complications in 31% of patients at a mean dosage of 2.12 mg/kg/day. This study reports on the minimal dosage and duration of treatment to achieve accelerated involution and side effects using a stepwise escalation regimen. Consecutive patients with problematic proliferating IH treated with propranolol were identified from our vascular anomalies database. Propranolol was commenced at 0.5 mg/kg/day in two divided doses and increased to 1 mg/kg/day after 24 h. The patients were reviewed after 1 week, and the dosage was increased to 1.5 mg/kg/day. The dosage was further increased by 0.5 mg/kg/day, if necessary, to achieve accelerated involution. Forty-four patients, aged 3 weeks to 11 months (mean, 3.8 months), received propranolol therapy for problematic proliferating IH. The minimal dosage required to achieve accelerated involution was 1.5-2 mg/kg/day. Treatment was maintained for an average of 9.3 months and discontinued at an average age of 14.2 months. Rebound growth occurred in the first patient of this series when propranolol was withdrawn at 7.5 months of age, requiring reinstitution of treatment. Slight rebound growth following cessation of treatment was observed in four other patients, but reinstitution of propranolol was not required. Minor complications were observed in three (6.8%) patients. Propranolol at 1.5-2 mg/kg/day, administered in divided doses with stepwise escalation, is safe and effective for treating problematic proliferating IH. Treatment is continued to an average age of 14.2 months. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  4. Laser treatment of infantile hemangioma: A systematic review.

    PubMed

    Chinnadurai, Sivakumar; Sathe, Nila A; Surawicz, Tanya

    2016-03-01

    To systematically review studies of laser treatment of infantile hemangioma (IH). We searched multiple databases including MEDLINE® and EMBASE from 1982 to June 2015. Two investigators independently screened studies against predetermined criteria and extracted key data. Investigators independently assessed study risk of bias and the strength of the evidence of the body of literature. We identified 29 studies addressing lasers: 4 randomized controlled trials, 8 retrospective cohort studies, and 17 case series. Lasers varied across studies in type, pulse width, or cooling materials. Most comparative studies (n = 9) assessed variations of pulsed dye laser (PDL) and examined heterogeneous endpoints. Most studies reported on treatment of cutaneous lesions. Overall, longer pulse PDL with epidermal cooling was the most commonly used laser for cutaneous lesions; Nd:YAG was the most commonly used intralesionally. Most studies reported a higher success rate with longer pulse PDL compared with observation in managing the size of IH, although the magnitude of effect differed substantially. CO2 laser was used for subglottic IH in a single study, and was noted to have a higher success rate and lower complication rate than both Nd:YAG and observation. Studies comparing laser with β-blockers or in combination with β-blockers reported greater improvements in lesion size in combination arms versus β-blockers alone and greater effects of lasers on mixed superficial and deep IH. Strength of the evidence for outcomes after laser treatments ranged from insufficient to low for effectiveness outcomes. Strength of the evidence was insufficient for the effects of laser compared with β-blockers or in combination with β-blockers as studies evaluated different agents and laser types. Studies assessing outcomes after CO2 and Nd:YAG lasers typically reported some resolution of lesion size, but heterogeneity among studies limits our abilities to draw conclusions. Studies of laser

  5. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

    PubMed Central

    Williams, Ruth; Vesa, Jouni; Järvelä, Irma; McKay, Tristan; Mitchison, Hannah; Hellsten, Elina; Thompson, Andrew; Callen, David; Sutherland, Grant; Luna-Battadano, David; Stallings, Ray; Peltonen, Leena; Gardiner, Mark

    1993-01-01

    The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. Inheritance is autosomal recessive. Three main childhood subtypes are recognized: infantile (Haltia-Santavuori disease; MIM 256743), late infantile (Jansky-Bielschowsky disease; MIM 204500), and juvenile (Spielmeyer-Sjögren-Vogt, or Batten, disease; MIM 204200). The gene loci for the juvenile (CLN3) and infantile (CLN1) types have been mapped to human chromosomes 16p and 1p, respectively, by linkage analysis. Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). The three childhood subtypes of NCL therefore arise from mutations at distinct loci. PMID:8213822

  6. Foraminotomia cervical posterior en el tratamiento de conflictos foraminales

    PubMed Central

    Campero, Álvaro; Barrera, Ramiro; Ajler, Pablo

    2012-01-01

    Introducción: La foraminomotima cervical posterior es un procedimiento utilizado para la descompresion radicular por via posterior y constituye una alternativa a la via clásica anterior. En este trabajo evaluamos nuestra serie de pacientes tratados por esta via. Método: Desde enero de 2008 a diciembre de 2011, 17 pacientes (18 foraminotomías) fueron operados por presentar cervicobraquialgia a causa de un conflicto foraminal, realizando un foraminotomía cervical posterior. Los pacientes fueron evaluados en el postoperatorio inmediato, al mes y a los 3 meses de la cirugía. Los parámetros para valorar los resultados fueron la Escala Análoga del Dolor (VAS), la Neck Disability Index y los criterios de Odom. Resultados: El dolor radicular por conflicto foraminal secundario a hernia de disco cervical fue el síntoma y la patología predominante. El nivel más afectado fue C5-C6. La resolución completa del dolor radicular se observó en casi todos los pacientes. La VAS preoperatoria en promedio fue de 8.8 (mínimo 8 – máximo 10), con una franca mejoría en todos los casos (0.4 en el último control). La media en la Neck Disability Index al inicio fue de 35.3 (mínimo 32 – máximo 45), con una evolución favorable en la evaluación final (0.6). Los Criterios de Odom para la evaluación de pacientes operados de columna cervical fueron satisfactorios con un promedio de 1.17. Se observaron complicaciones en 4 pacientes (23%), todas tuvieron una evolución favorable. No hubo infecciones, discitis ni empeoramiento de los síntomas preexistentes en ningún paciente. Conclusión: La foraminotomía cervical posterior es un procedimiento efectivo para el tratamiento del dolor radicular en los conflictos foraminales PMID:23596556

  7. Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.

    PubMed

    Riikonen, Raili Sylvia; Wallden, Tiina; Kokkonen, Hannaleena

    2016-01-01

    Familial cases of West syndrome have been reported only in Japan. In that study no chromosomal analyses were made. It has been suggested that microarray analysis should be included in the diagnostic evaluation of patients with infantile spasms and developmental delay, when an evaluation for structural brain lesions and metabolic disorders reveal no abnormal findings. We report here the first case of infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations. The daughter and mother with infantile spasms, and the autistic son had the duplication. The clinical course of infantile spasms was very similar in the mother and daughter. The spasms were primarily considered to be of unknown aetiology. Chromosomal microarray analysis revealed a 6.2 Mb size 15q11.2q13.1 duplication. The duplication belongs to the 15q11q13 duplication syndrome (OMIM 608636) which when maternally derived is characterised by neuro-behavioural disorders like autism, hypotonia, cognitive deficit, language delay and epilepsy. The proportion of patients with unknown aetiology for infantile spasms will decrease when more careful chromosomal studies are made. Our report expands the phenotype of chromosome 15q duplication syndrome and is the first report of this abnormality in two successive generations of infantile spasms.

  8. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

    PubMed Central

    Thomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina

    2011-01-01

    Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

  9. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.

    PubMed

    Thomas, Mervyn G; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J; McLean, Rebecca J; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P; Moore, Anthony T; Hunter, David G; Hertle, Richard W; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina; Gottlob, Irene

    2011-03-01

    Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280 s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted

  10. Social Impact of Facial Infantile Hemangiomas in Preteen Children.

    PubMed

    Costa, Victoria A; Haimowitz, Rachel; Cheng, Yao I; Wang, Jichuan; Silverman, Robert A; Bauman, Nancy M

    2016-01-01

    Involuted infantile facial hemangiomas (IHs) may adversely affect the social skills of children. To assess the social impact of involuted facial IHs, with or without prior treatment, in preteen children. An observational, cross-sectional study of social anxiety and skills in preteen children with facial IHs diagnosed during infancy. The study took place in an academic institution and a community dermatology practice between January 1, 2013, and July 30, 2014. Records on 236 children with IHs located in a cosmetically sensitive area were identified; of those, 144 potential participants (parents) were reached by telephone and mailed study packets. Thirty completed questionnaires were returned. Data analysis was performed from August 1, 2014, to September 7, 2015. The questionnaires included the following psychiatric scales: (1) Social Anxiety Scale for Children-Revised (SASC-R), completed by parents and children, including the domains of Fear of Negative Evaluation and Social Avoidance/Distress in New Situations (SAD-New) (higher scores indicate greater social anxiety), and (2) Social Competency Inventory (SCI), completed by parents, including the domains of Prosocial Behavior and Social Initiative (lower scores indicate poorer social competency). Demographics, clinical details, and survey responses were collected. Analysis was conducted using t tests to compare scores for each survey domain with established normative data and between sex as well as between treatment vs nontreatment groups. Of the 144 potential participants, 30 (21%) responded. The mean age of the preteen subjects was 10.0 years (range, 5.4-12.9 years) with a 2:1 female to male ratio. Twenty-five children (83%) had a single IH, and the remaining 5 participants (17%) had multiple IHs, with at least 1 IH in a cosmetically sensitive area. The periocular region was the most common site of the IH (10 [33%]), followed by the nose (6 [20%]), cheek (5 [17%]), forehead (4 [13%]), lip or perioral region (4 [13

  11. El uso de la neuromodulación para el tratamiento del temblor

    PubMed Central

    Bendersky, Damián; Ajler, Pablo; Yampolsky, Claudio

    2014-01-01

    Introducción: El temblor puede ser un desorden incapacitante y el tratamiento de primera línea para estos pacientes es farmacológico. Sin embargo, este tratamiento puede llevar a una reducción satisfactoria del temblor en sólo el 50% de los pacientes con temblor esencial. La talamotomía era el tratamiento de elección para el temblor refractario al tratamiento médico hasta que comenzó a utilizarse la estimulación cerebral profunda (ECP) del núcleo ventral intermedio (Vim) del tálamo. En la actualidad, raramente se realiza la talamotomía. Métodos: Este artículo es una revisión no sistemática de las indicaciones, resultados, parámetros de programación y técnica quirúrgica de la ECP del Vim para el tratamiento del temblor. Resultados: Aunque los resultados clínicos son similares usando la talamotomía o la ECP del Vim, la primera causa más efectos adversos que la última. Además, la ECP puede ser usada bilateralmente, mientras que la talamotomía tiene un alto riesgo de causar disartria cuando se realiza de ambos lados. La ECP del Vim logró una adecuada mejoría del temblor en varias series de pacientes con temblor causado por temblor esencial, enfermedad de Parkinson o esclerosis múltiple. Además del Vim, hay otros blancos que están siendo usados por varios autores, tales como la zona incerta y las radiaciones prelemniscales. Conclusión: La ECP del Vim es un tratamiento útil para el temblor incapacitante refractario al tratamiento médico. Es esencial realizar una precisa selección de pacientes, así como utilizar una técnica quirúrgica correcta. Aún se desconoce el mejor blanco estereotáctico para el temblor, aunque el Vim es el más usado. PMID:25165613

  12. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    PubMed Central

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Summary Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. Case Report This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Conclusions Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease. PMID:26985245

  13. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.

    PubMed

    Yiu, Eppie M; Ryan, Monique M

    2012-09-01

    The infantile-onset axonal neuropathies and neuronopathies are an uncommon and heterogeneous group of conditions causing weakness, wasting, and developmental delay in early childhood. Many are associated with central nervous system or other systemic manifestations and cause early mortality. We review the axonal Charcot-Marie-Tooth subtypes with onset in infancy, spinal muscular atrophy, and related syndromes of early infancy, giant axonal neuropathy, infantile neuroaxonal dystrophy, hereditary motor and sensory neuropathy with agenesis of the corpus callosum, early-onset neuropathies associated with mitochondrial disorders, and other less well-delineated clinical entities. Useful clinical and neuropathologic features in the diagnostic work-up of these conditions are also presented. © 2012 Peripheral Nerve Society.

  14. Amblyopia after unilateral infantile cataract extraction after six weeks of age.

    PubMed

    Ejzenbaum, Fábio; Salomão, Solange Rios; Berezovsky, Adriana; Waiswol, Mauro; Tartarella, Márcia Beatriz; Sacai, Paula Yuri; Pereira, Josenilson Martins

    2009-01-01

    To determine interocular grating acuity difference in children treated for unilateral infantile cataract. A group of 27 children previously treated for unilateral infantile cataract, had their monocular visual acuity measured by sweep visual evoked potentials. Interocular grating acuity difference was calculated as the absolute subtraction of monocular acuity scores. Lens status, opacity severity and eye alignment were considered for analysis. Mean interocular grating acuity difference obtained from unilateral cataract patients was 0.58 +/- 0.20 logMAR. This result was significantly larger than 0.10 logMAR used as normative data. Children with severe opacities had a more pronounced amblyopia than the moderate ones. No significant correlation between amblyopia and strabismus or aphakia was found. Interocular acuity difference in this group of unilateral congenital cataract was more pronounced than previous reports, mainly because of delay in diagnosis, surgery and optical correction.

  15. Osteomyelitis of Maxilla in Infantile With Periorbital Cellulitis: A Case Report.

    PubMed

    Feng, Zhiqiang; Chen, Xufeng; Cao, Fengdi; Lai, Renfa; Lin, Qiang

    2015-10-01

    Infantile osteomyelitis (IO) is an uncommon and life-threatening disease that can be misdiagnosed. Early diagnosis and treatment can reduce the incidence of sequel. In this case report, we present a 25-day-old male infant with apparent edema in the entire left periorbital region. Intraorally, the edema occurred in the mucosa of the upper left alveolar region, and 2 draining fistulas with exuded yellow-white pus were present in the left alveolar region. The patient received constant monitoring after admission, and was diagnosed as IO of the maxilla with periorbital cellulitis and sepsis. He also received incision and drainage and anti-inflammatory treatment. After discharge, the patient was followed up for 3 months by phone call, but no recurrence of symptoms was found. Infantile osteomyelitis is rare in clinic. This case report reminds us of the significance of IO and provides some implications on its diagnosis and treatment.

  16. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

    PubMed

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it's specific imaging findings. Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease.

  17. Substrate reduction therapy in the infantile form of Tay-Sachs disease.

    PubMed

    Bembi, B; Marchetti, F; Guerci, V I; Ciana, G; Addobbati, R; Grasso, D; Barone, R; Cariati, R; Fernandez-Guillen, L; Butters, T; Pittis, M G

    2006-01-24

    Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed.

  18. The effectiveness of propranolol in treating infantile haemangiomas: a meta-analysis including 35 studies

    PubMed Central

    Lou, Yin; Peng, Wen-jia; Cao, Yi; Cao, Dong-sheng; Xie, Juan; Li, Hong-hong

    2014-01-01

    Aims Propranolol may have shown excellent results as a first line therapy in infantile haemangiomas (IHs) at all sites in the body, but this conclusion remains controversial. In an attempt to resolve this issue, we performed a meta-analysis. Methods A search of the literature using PubMed, MEDLINE, Cochrane Library databases and China National Knowledge Infrastructure (CNKI) was performed to identify studies which estimated the efficacy of propranolol therapy in infants with haemangiomas all sites of the body. The pooled odds ratio (OR) along with the corresponding 95% confidence intervals (CI) were assessed using a fixed effects model. Results Thirty-five studies involving 324 infantile haemangioma(IH) patients and 248 controls were retrieved and analyzed. The efficacy of propranolol was greater than other therapies in treating IHs (OR = 9.67, 95% CI 6.62, 14.12, P < 0.001). In a stratified analysis by sites of tumour, propranolol was a more effective therapy when compared with steroids (OR = 9.67, 95% CI 6.61, 14.15, P < 0.001), vincristine (OR = 9.00, 95% CI 2.15, 37.66, P = 0.003) and laser treatment (OR = 9.00, 95% CI 1.42, 57.12, P = 0.020) in treating cutaneous IHs (OR = 24.95, 95% CI 9.48, 65.64, P < 0.001), peri-ocular IHs (OR = 9.39, 95% CI 3.88, 22.71, P < 0.001), infantile airway haemangiomas (OR = 20.91, 95% CI 7.81, 55.96, P < 0.001) and infantile hepatic haemangiomas (OR = 9.89, 95% CI 1.20, 81.54, P = 0.033). Conclusion The current meta-analysis provided strong evidence for propranolol as a first line therapy for IHs. PMID:24033819

  19. Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

    PubMed

    Romani, M; Kraoua, I; Micalizzi, A; Klaa, H; Benrhouma, H; Drissi, C; Turki, I; Castellana, S; Mazza, T; Valente, E M; Gouider-Khouja, N

    2015-01-01

    Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. Seventeen North African patients with a clinical suspicion of infantile-onset PLAN underwent clinical, neurophysiological and neuroimaging examinations, and PLA2G6 sequencing. Haplotype analysis was performed to date the identified founder mutation. All patients carried biallelic mutations in PLA2G6. Sixteen children had the commonest form of infantile-onset PLAN, with early onset of psychomotor regression, hypotonia, pyramidal and cerebellar signs, and abnormal ocular movements. The phenotype was highly homogeneous, with rapid development of severe spastic tetraparesis, cognitive impairment and optic atrophy. Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest signs, whilst cerebellar cortex hyperintensity and pallidal iron deposition were later findings. Motor or sensory-motor neuropathy and electroencephalogram fast rhythms were also frequent. Nine patients from six families shared the same founder mutation (p.V691del) which probably arose by the late seventeenth century. Only one patient fitted the diagnosis of the much rarer childhood-onset PLAN. Despite the early onset (18 months), clinical progression was slower, with behavioral disturbances and dystonia. Typical features of infantile-onset PLAN such as hypotonia, nystagmus/strabismus, optic atrophy, electroencephalogram fast rhythms and motor neuropathy were absent. Cerebellar atrophy, claval hypertrophy and pallidal hypointensity were evident at brain magnetic resonance imaging. This patient carried a missense variant predicted to be less deleterious. The PLAN-associated phenotypes and the challenges of diagnosing the childhood-onset form are delineated, and a common North African founder mutation is identifed. © 2014 EAN.

  20. Infantile diarrhea in the Pediatric Ward of Dr. Pirngadi Hospital Medan.

    PubMed

    Metrizal; Sinuhaji, A B; Sutanto, A H

    1991-01-01

    A retrospective study was done on infants with diarrhea who were hospitalized at the Pediatric ward of Dr. Pirngadi Hospital, Medan in a period of one year (January 1 to December 31, 1986). There were 3317 hospitalized patients and 1506 (45.40%) of them had diarrhea. Of these, 773 (51.32%) were in the age group of under 2 years. Thirty eight patients (4.91%) with infantile diarrhea died and prolonged diarrhea was found in 54 (6.98%) cases.

  1. Infantile masturbation in an African female: is this a justification for female genital cutting?

    PubMed

    Otaigbe, Barbara Edewele

    2008-05-01

    Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

  2. Propranolol therapy for infantile hemangioma is less toxic but longer in duration than corticosteroid therapy

    PubMed Central

    Sawa, Kathryn; Yazdani, Arjang; Rieder, Michael J; Filler, Guido

    2014-01-01

    BACKGROUND: Infantile hemangioma is the most common benign, self-limiting tumour of childhood. Treatment is reserved for hemangiomas that obstruct vital structures or cause significant disfigurement. Traditionally, corticosteroids have been the medical treatment of choice. Since 2008, however, propranolol has been rapidly adopted as an effective pharmacological treatment for infantile hemangioma. Published data regarding the long-term side effects of propranolol are currently lacking. OBJECTIVE: To describe the long-term effects of propranolol and corticosteroids on anthropometric measurements (height, body mass index [BMI]) and blood pressure in children. METHODS: A prospective database analysis of all infantile hemangioma patient visits to the pediatric vascular abnormality clinic at the authors’ institution between October 2007 and February 2012 was performed. Anthropometric measures (height and BMI) and blood pressure were analyzed. RESULTS: A total of 290 visits (119 patients) to the pediatric vascular abnormality clinic were reviewed. Of these, 18 patients received medical treatment and their anthropometry was analyzed. BMI percentile increased significantly in patients treated with corticosteroids (P=0.0039). Corticosteroid treatment also resulted in a significant decrease in height percentile (P=0.0078). Anthropometric measures did not cross percentiles in children treated with propranolol. A significant decrease in systolic blood pressure was noted in the propranolol group (P=0.03), but no hypotensive values were recorded. Median treatment duration was significantly longer when patients received propranolol (372 versus 133 days; P=0.0033). CONCLUSION: Propranolol for the treatment of infantile vascular abnormalities does not share the unfavourable effects on patient anthropometry that corticosteroids exhibit; however, a longer duration of therapy is required. PMID:25535459

  3. Further implications of probable changes in medial rectus muscle innervation after surgery for infantile esotropia.

    PubMed

    Mims, James L

    2009-01-01

    The conclusion that setting the eyes of an infantile esotrope (ET) straight with a successful bilateral medial rectus muscle reseccion (MROU) reduces the preoperative hyperinnervation of these muscles almost to normal may have special implications for the best principles of management of infantile ET not detailed in a recent paper by Mimms, III, Miller and Schoolfield. The same 113 infantile esotropes who provided data for the exoshift under anesthesia study had previously provided data for a dose-response curve. A simple geometric calculation was done to determine the amount of medial rectus (MR) recession necessary to compensate for contracture, and this was substracted from the dose-response value to reveal the additional mm of recession required to the MR sufficiently down the length-tension curve to compensate for the preoperative MR hyperinnervation. The result of these calculations yielded a surprisingly narrow range of averaging 3.6 mm (range 3.2 to 3.8 mm) for a broad range of preoperative deviations (20 ET to 80 ET). The conclusions which may be drawn from this analysis include an understanding of why infantiles (and other) esotropias tend to increase in size in a few weeks or months if unteated, verification of the wisdom of the common practice of measuring the deviation no more than a day or two prior to the surgery, and the common observation that unilateral medial rectus recessions of a given amount will generally produce significantly less than half of the effect of a similarly-sized bilateral medial rectus recession. Finally, this understanding explains the poor success rate of surgery in the presence of dense amblyopia with eccentric fixation.

  4. Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision.

    PubMed

    Huurneman, Bianca; Boonstra, F Nienke

    2013-12-01

    To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Interocular acuity differences and binocular summation ratios were compared between groups. Crowding ratios were calculated by dividing the single Landolt C decimal acuity with the crowded Landolt C decimal acuity mono- and binocularly. A linear regression analysis was conducted to investigate the contribution of 5 predictors to the monocular and binocular crowding ratio: nystagmus amplitude, nystagmus frequency, strabismus, astigmatism, and anisometropia. Crowding ratios were higher under mono- and binocular viewing conditions for children with infantile nystagmus syndrome than for children with normal vision. Children with albinism showed higher crowding ratios in their poorer eye and under binocular viewing conditions than children with normal vision. Children with albinism and children with infantile nystagmus syndrome showed larger interocular acuity differences than children with normal vision (0.1 logMAR in our clinical groups and 0.0 logMAR in children with normal vision). Binocular summation ratios did not differ between groups. Strabismus and nystagmus amplitude predicted the crowding ratio in the poorer eye (p = 0.015 and p = 0.005, respectively). The crowding ratio in the better eye showed a marginally significant relation with nystagmus frequency and depth of anisometropia (p = 0.082 and p = 0.070, respectively). The binocular crowding ratio was not predicted by any of the variables. Children with albinism and children with infantile nystagmus syndrome show larger interocular acuity differences than children with normal vision. Strabismus and nystagmus amplitude are significant predictors of the crowding ratio in the poorer eye.

  5. Propranolol therapy for cutaneous infantile haemangiomas initiated safely as a day-case procedure.

    PubMed

    McSwiney, Edward; Murray, Deirdre; Murphy, Michelle

    2014-01-01

    Propranolol is emerging as the treatment of choice for high-risk infantile haemangiomas. Current protocols recommend overnight admission for initiation of propranolol as well as baseline investigations including electrocardiography (ECG) and echocardiography (ECHO). Our study examined the safety profile of propranolol for the treatment of infantile haemangiomas using a simplified day-case initiation protocol. We evaluated 20 consecutive patients commencing propranolol as a day case for the treatment of an infantile haemangioma over an 18-month period. Investigations were carried out according to our local protocol. Cardiac investigations were not routinely performed. Patients were observed for 2 h following administration of the first dose of propranolol (0.5 mg/kg orally). If no adverse effects were observed, patients were discharged on a daily dose of propranolol of 1 mg/kg, increased to 2 mg/kg on day 4. Patients were reviewed on the day ward on day 8. All haemangiomas requiring treatment were small to moderate in size (median maximum diameter 2.35 cm). Except for capillary blood glucose measurement, no patient required venepuncture for additional blood investigations. As all patients had a normal clinical examination, none required ECHO. An ECG was performed on just one patient. No adverse reactions were observed following administration of propranolol. All patients were discharged home on the same day. No serious adverse events were reported at follow-up. We demonstrate that with targeted cardiac screening, propranolol can be safely initiated on a day-case basis for the treatment of small- to moderate-sized infantile haemangiomas.

  6. The early electroclinical manifestations of infantile spasms: A video EEG study

    PubMed Central

    Iype, Mary; Kunju, Puthuvathra Abdul Mohammed; Saradakutty, Geetha; Mohan, Devi; Khan, Shahanaz Ahamed Mohammed

    2016-01-01

    Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. Materials and Methods: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. Results: A total of 869 spasms were reviewed. Nine (56.3%) showed focal seizures at least once during the recording and 1 (6.3%) had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75%) was the slow wave. Four (25%) showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. Conclusion: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75%) of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity. PMID:27011629

  7. [The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

    PubMed

    Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

    2016-05-01

    Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation.

  8. Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

    PubMed

    Hörtnagel, K; Nardocci, N; Zorzi, G; Garavaglia, B; Botz, E; Meitinger, T; Klopstock, T

    2004-09-14

    Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have led to the hypothesis of an allelic relationship. With the discovery of the gene defect in PKAN, this can now be tested directly. The authors excluded linkage in one consanguineous INAD family by haplotype analysis. Moreover, sequencing in seven INAD families revealed no mutations in PANK2 or in other genes of CoA biogenesis. Thus, INAD and PKAN are genetically heterogeneous disorders.

  9. Propranolol inhibits endothelial progenitor cell homing: a possible treatment mechanism of infantile hemangioma.

    PubMed

    Zou, Hai-Xiao; Jia, Jun; Zhang, Wen-Feng; Sun, Zhi-Jun; Zhao, Yi-Fang

    2013-01-01

    Propranolol effectively treats infantile hemangioma, but its mechanisms of action remain poorly understood. Although the antiangiogenesis role of propranolol has been previously demonstrated, several lines of evidence suggest that this therapeutic agent may affect the neovascular formation in infantile hemangioma by targeting vasculogenesis. In addition, the homing of endothelial progenitor cells to the lesion of infantile hemangioma plays an important role during the process of vasculogenesis. The purpose of this study was to investigate whether propranolol inhibits the vasculogenesis in infantile hemangioma by targeting endothelial progenitor cells recruitment. Endothelial progenitor cells were treated with different concentrations (0, 1, 5, 10, 20, 40, 60, 80, 100 μM) of propranolol for indicated times (24, 48, 72 h). Cell proliferation and viability were assessed by MTT assay and trypan blue staining. Cell migration was determined by wound healing assay and Boyden chamber assay. The expression levels of extracellular signal regulated kinase, phospho-extracellular signal regulated kinase, Akt, and phospho-Akt were measured by Western blot analysis to explore the molecular mechanism of propranolol on endothelial progenitor cells. In addition, the expression of CXCR4 was measured by Western blot and reverse transcriptase polymerase chain reaction. Propranolol did not significantly affect the proliferation of endothelial progenitor cells. It inhibited stromal-cell-derived factor 1α-induced migration of endothelial progenitor cells through the Akt and MAPK pathways and the expression of CXCR4 in a dose- and time-dependent manner. In addition, the expression of CXCR4 was suppressed by propranolol most likely through the Akt and MAPK pathways. Propranolol inhibits stromal-cell-derived factor 1α-induced endothelial progenitor cell homing by suppressing the expression of CXCR4 most likely through the Akt and MAPK pathways. Copyright © 2013 Elsevier Inc. All rights

  10. Chronic polioencephalitis with cerebral atrophy in infantile X-linked hypogammaglobulineaemia.

    PubMed Central

    Liwnicz, B H; Marinkovich, V A

    1979-01-01

    The development of a chronic polioencephalitis is reported in a patient with infantile X-linked hypogammaglobulinaemia (IXH Bruton type agammaglobulinaemia). In early childhood, the patient had multiple episodes of purulent inflammation involving the meninges and respiratory tract. He was given continuous administration of gammaglobulin and intermittent treatment with antibiotics, and survived for 21 years. The neuropathological lesion, which revealed severe cerebral atrophy, is described. Images PMID:572414

  11. Infantile pyknocytosis: an under-recognized form of neonatal hemolytic anemia?

    PubMed

    Coutinho, Maria; Costa, Emília; Monteiro, Tânia; Silva, Gisela; Costa, Helena; Guedes, Ana; Freitas, Inês; Barbot, José

    2012-12-01

    Infantile pyknocytosis (IP) is an under-recognized hematological entity of newborns that can cause a severe neonatal hemolytic anemia. A careful, prompt, and accurate peripheral blood smear examination is essential to establish the diagnosis. Here we describe the clinical features and histological parameters of 1 case of IP. Spontaneous resolution usually occurs by 4 to 6 months, but red blood cell transfusion may be needed if the anemia is severe.

  12. Propagation of infantile gastroenteritis virus (orbi-group) in conventional and germfree piglets.

    PubMed

    Middleton, P J; Petric, M; Szymanski, M T

    1975-12-01

    Infantile gastroenteritis virus (orbi-group) recovered from stools of infants with acute nonbacterial gastroenteritis was administered per os to germfree and conventional piglets. Virus was found subsequently in stools and in the mucosal epithelial cells of the small intestine of these animals. Some animals developed diarrhea. Added proof of orbivirus replication was obtained through the use of tritiated uridine injections and the recovery of labeled virus in gut contents at the time of autopsy. Serological conversion was demonstrated in infected germfree piglets.

  13. Effects of systemic propranolol treatment on physical growth of patients with infantile hemangiomas.

    PubMed

    Hu, Li; Zhou, Bingrui; Huang, Huizhen; Chang, Lei; Qiu, Yajing; Ma, Gang; Chen, Hui; Jin, Yunbo; Xu, Xiu; Lin, Xiaoxi; Li, Wei

    2016-10-01

    Propranolol has been widely used in the treatment of infantile hemangiomas since 2008. This study aimed to investigate complications of systemic propranolol therapy for infantile hemangiomas, especially its effect on infants' physical growth. In this study, propranolol was given at a dose of 2 mg/kg per day. Abnormal symptoms and growth parameters were recorded in detail during the therapy. Follow-up visits were arranged to continue at least through the age of 2 years. A total of 76 patients with complete growth parameters were enrolled into the study. Complications of propranolol were minor, and mainly included sleeping disorders, diarrhea, decrease in fasting glucose, bronchial hyperactivity and hyperkalemia. Four (5.26%) patients' growth curve dropped off more than 20 percentiles during therapy and half of them returned to normal after withdrawal of the medications. None of them suffered from underweight, wasting or stunning when medication was stopped. Systemic propranolol was proved to be a safe treatment for problematic infantile hemangiomas and did not affect the physical growth. © 2016 Japanese Dermatological Association.

  14. Long-Range Temporal Correlations Reflect Treatment Response in the Electroencephalogram of Patients with Infantile Spasms.

    PubMed

    Smith, Rachel J; Sugijoto, Amanda; Rismanchi, Neggy; Hussain, Shaun A; Shrey, Daniel W; Lopour, Beth A

    2017-09-13

    Infantile spasms syndrome is an epileptic encephalopathy in which prompt diagnosis and treatment initiation are critical to therapeutic response. Diagnosis of the disease heavily depends on the identification of characteristic electroencephalographic (EEG) patterns, including hypsarrhythmia. However, visual assessment of the presence and characteristics of hypsarrhythmia is challenging because multiple variants of the pattern exist, leading to poor inter-rater reliability. We investigated whether a quantitative measurement of the control of neural synchrony in the EEGs of infantile spasms patients could be used to reliably distinguish the presence of hypsarrhythmia and indicate successful treatment outcomes. We used autocorrelation and Detrended Fluctuation Analysis (DFA) to measure the strength of long-range temporal correlations in 21 infantile spasms patients before and after treatment and 21 control subjects. The strength of long-range temporal correlations was significantly lower in patients with hypsarrhythmia than control patients, indicating decreased control of neural synchrony. There was no difference between patients without hypsarrhythmia and control patients. Further, the presence of hypsarrhythmia could be classified based on the DFA exponent and intercept with 92% accuracy using a support vector machine. Successful treatment was marked by a larger increase in the DFA exponent compared to those in which spasms persisted. These results suggest that the strength of long-range temporal correlations is a marker of pathological cortical activity that correlates with treatment response. Combined with current clinical measures, this quantitative tool has the potential to aid objective identification of hypsarrhythmia and assessment of treatment efficacy to inform clinical decision-making.

  15. Characterizing the Intestinal Microbiome in Infantile Colic: Findings Based on an Integrative Review of the Literature.

    PubMed

    Dubois, Nancy E; Gregory, Katherine E

    2016-05-01

    Approximately 20% of newborns will develop symptoms of infantile colic starting around 2 weeks of age. While health care providers have a greater understanding of the impact that inconsolable crying has on family dynamics, maternal-infant bonding, and health care resources, opportunities for study still exist in the area of intestinal microbiome research. Advances in molecular technologies utilizing 16S ribosomal RNA and ribosomal DNA created the opportunity for researchers to index the intestinal microbial composition to better understand its association with infantile colic. This integrative review provides a synopsis of the findings from five recent studies that utilized nonculture-based approaches to characterize the intestinal microbiome of infants with colic. Articles were identified through PubMed, CINAHL, and Google Scholar using the search terms colic, crying, fussiness, microbiome, and microbiota. The general aim of the research studies was to better understand the potential association of intestinal dysbiosis with the development of colic symptoms. The research found that infants who expressed symptoms of colic were colonized with significantly higher levels of Proteobacteria and exhibited lower bacterial diversity when compared to their unaffected counterparts. Additionally, colonization levels of Actinobacteria Bifidobacterium and Firmicute Lactobacilli were inversely related to the amount of crying and fussiness in newborns. The observed association of an imbalanced colonization of the intestines by noncommensal bacteria with the expression of infantile colic symptoms warrants further exploration. © The Author(s) 2015.

  16. Great Ormond Street Hospital treatment guidelines for use of propranolol in infantile isolated subglottic haemangioma.

    PubMed

    Bajaj, Y; Kapoor, K; Ifeacho, S; Jephson, C G; Albert, D M; Harper, J I; Hartley, B E

    2013-03-01

    Treatment options for large subglottic haemangioma include steroids, laser ablation, open excision, tracheostomy and, more recently, propranolol. This article aims to present the Great Ormond Street Hospital guidelines for using propranolol to treat infantile isolated subglottic haemangioma by ENT surgeons. The vascular malformations multidisciplinary team at Great Ormond Street Hospital has developed guidelines for treating infantile haemangioma with propranolol. The Great Ormond Street Hospital guidelines for propranolol treatment for infantile subglottic haemangioma include investigation, treatment and follow up. Propranolol is started at 1 mg/kg/day divided into three doses, increasing to 2 mg/kg/day one week later. On starting propranolol and when increasing the dose, the pulse rate and blood pressure must be checked every 30 minutes for the first 2 hours. Lesion response to treatment is assessed via serial endoscopy. Recent reports of dramatic responses to oral propranolol in children with haemangioma and acute airway obstruction have led to increased use. We advocate caution, and have developed guidelines (including pre-treatment investigation and monitoring) to improve treatment safety. Propranolol may in time prove to be the best medical treatment for subglottic haemangioma, but at present is considered to be still under evaluation.

  17. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

    PubMed

    Wang, Zhaohui; Okamoto, Patricia; Keutzer, Joan

    2014-02-01

    Pompe disease is caused by a deficiency of acid α-glucosidase (GAA; EC, 3.2.1.20), and the infantile-onset form is rapidly fatal if left untreated. However, recombinant human GAA (rhGAA) enzyme replacement therapy (ERT) extends survival for infantile Pompe patients. Although cross-reactive immunologic material (CRIM)-negative patients, who lack detectable endogenous GAA, mount an immune response to rhGAA that renders the therapy ineffective, timely induction of immune tolerance in these patients may improve clinical outcomes. Previously, CRIM status has been determined by Western blot analysis in cultured skin fibroblasts, a process that can take a few weeks. We present a blood-based CRIM assay that can yield results within 48 to 72 h. Results from this assay have been confirmed by GAA Western blot analysis in fibroblasts or by GAA sequencing in a small number of Pompe disease patients. Rapid classification of CRIM status will assist in identifying the most effective treatment course and minimizing treatment delays in patients with infantile-onset Pompe disease.

  18. A New Perspective for Infantile Hepatic Hemangioma in the Age of Propranolol: Experience at Baskent University.

    PubMed

    Sarıalioğlu, Faik; Yazıcı, Nalan; Erbay, Ayşe; Boyvat, Fatih; Demir, Şenay; Özçay, Figen; Uslu, Nihal

    2017-03-01

    Propranolol was first used in 2008 to treat hemangioma; its efficacy and safety have since changed the classical treatment indications. Infantile hepatic hemangioma presents as a spectrum of clinical conditions varying from simple asymptomatic lesions to lethal complications. Tufted hemangioma and Kaposiform hemangioendothelioma are congenital vascular tumors that lead to Kasabach-Merritt syndrome. Hemangiomas, like pure arteriovenous malformations, can cause hyperdynamic heart failure, and diffuse nodular-type hemangiomas can present with hypothyroidism. Respiratory problems and hepatic failure can be associated with diffuse nodular-type liver hemangiomas. There is a spectrum of approaches to management, varying from "watchful waiting" to liver transplant. In the age of propranolol, there has been a prominent change in the infantile hepatic hemangioma treatment algorithm. Our suggestion is early treatment with 3 mg/kg/day propranolol plus 1.0 to1.5 mg/kg/day prednisolone in all patients. This protocol is the most effective strategy for type 3 infantile hepatic hemangioma. Approximately one-third of patients with abdominal compartment syndrome in the era before propranolol treatment required liver transplant; this new treatment obviates transplant for many of these patients.

  19. Reduced Grating Acuity Associated with Retinal Toxicity in Children with Infantile Spasms on Vigabatrin Therapy

    PubMed Central

    Durbin, Sivan; Mirabella, Giuseppe; Buncic, J. Raymond; Westall, Carol A.

    2013-01-01

    Purpose To determine whether visual functions are decreased in children with infantile spasms and vigabatrin-attributed retinal toxicity. Methods Contrast sensitivity and grating acuity were measured by using sweep visual evoked potential (VEP) testing in 42 children with infantile spasms (mean age, 29.23 ± 18.31 months). All children had been exposed to vigabatrin (VGB) for a minimum of 1 month. These children were divided into retinal toxicity and no toxicity groupings based on 30-Hz flicker amplitude reductions on the full-field electroretinogram. A multivariate analysis of variance (MANOVA) compared visual functions between children with and without retinal toxicity. Results The MANOVA showed that visual function was significantly affected by VGB retinal toxicity. Further univariate analysis revealed that grating acuity was significantly reduced in children with toxicity. No differences in contrast sensitivity were found between children with toxicity and those without. Conclusions Reduced visual functions from VGB-attributed retinal toxicity can be detected in children with infantile spasms with the sweep VEP. PMID:19279311

  20. Adolescent scar contracture scoliosis caused by back scalding during the infantile period

    PubMed Central

    Wang, S. F.; Wang, B.; Wu, L.; Zhu, F.

    2007-01-01

    The study design was a retrospective study in adolescent scar contracture scoliosis caused by back scalding during the infantile period. The objective of the study was to investigate the pathogenesis, clinical manifestation and treatment of adolescent scar contracture scoliosis caused by back scalding during the infantile period. This condition seldom occurs and is not reported in current English literature. One patient was first treated with skin expansion, back scar excision and skin flap transfer, followed by anterior correction with TSRH instrumentation. Two patients were first treated with back scar excision and anterior spinal release. One patient was treated with posterior correction with TSRH instrumentation, and thoracoplasty was performed after 50 days in halo-wheelchair traction. The other patient was treated with posterior correction with TSRH instrumentation. No management of scalding was performed on the fourth patient. Anterior release and posterior correction were performed at an interval of 3 weeks. The deformities of four patients were well corrected. Trunk balance was restored and the pelvis leveled. The skin incision wounds healed well. Minor loss of correction was recorded during the last follow-up. Severe scar contracture caused by back scalding during the infantile period could lead to adolescent scoliosis. Its pathogenesis and clinical manifestation are different from the typical adolescent idiopathic scoliosis. The treatment of this kind of scoliosis should be individualized. PMID:17497186

  1. Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

    PubMed Central

    Güzel Nur, Banu; Çelmeli, Gamze; Manguoğlu, Esra; Soyucen, Erdoğan; Bircan, İffet; Mıhçı, Ercan

    2016-01-01

    Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is often missed out or delayed. Hypophosphatasia is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated with the age at diagnosis and the lack of tissue-nonspecific alkaline phosphatase activity; the severe forms of hypophosphatasia are primarily perinatal and infantile forms. Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. There is a limited number of hypophosphatasia patients with pyridoxine-responsive seizures in the literature, so early diagnosis of infantile hypophosphatasia in the clinically compatible patients allows more effective postnatal care/management and genetic counseling for further pregnancies. PMID:27086862

  2. Extraocular Muscles Tension, Tonus, and Proprioception in Infantile Strabismus: Role of the Oculomotor System in the Pathogenesis of Infantile Strabismus-Review of the Literature.

    PubMed

    Schiavi, Costantino

    2016-01-01

    The role played by the extraocular muscles (EOMs) in the etiology of concomitant infantile strabismus is still debated and it has not yet definitively established if the sensory anomalies in concomitant strabismus are a consequence or a primary cause of the deviation. The commonest theory supposes that most strabismus results from abnormal innervation of the EOMs, but the cause of this dysfunction and its origin, whether central or peripheral, are still unknown. The interaction between sensory factors and innervational factors, that is, esotonus, accommodation, convergence, divergence, and vestibular reflexes in visually immature infants with family predisposition, is suspected to create conditions that prevent binocular alignment from stabilizing and strengthening. Some role in the onset of fixation instability and infantile strabismus could be played by the feedback control of eye movements and by dysfunction of eye muscle proprioception during the critical period of development of the visual sensory system. A possible role in the onset, maintenance, or worsening of the deviation of abnormalities of muscle force which have their clinical equivalent in eye muscle overaction and underaction has been investigated under either isometric or isotonic conditions, and in essence no significant anomalies of muscle force have been found in concomitant strabismus.

  3. Extraocular Muscles Tension, Tonus, and Proprioception in Infantile Strabismus: Role of the Oculomotor System in the Pathogenesis of Infantile Strabismus—Review of the Literature

    PubMed Central

    Schiavi, Costantino

    2016-01-01

    The role played by the extraocular muscles (EOMs) in the etiology of concomitant infantile strabismus is still debated and it has not yet definitively established if the sensory anomalies in concomitant strabismus are a consequence or a primary cause of the deviation. The commonest theory supposes that most strabismus results from abnormal innervation of the EOMs, but the cause of this dysfunction and its origin, whether central or peripheral, are still unknown. The interaction between sensory factors and innervational factors, that is, esotonus, accommodation, convergence, divergence, and vestibular reflexes in visually immature infants with family predisposition, is suspected to create conditions that prevent binocular alignment from stabilizing and strengthening. Some role in the onset of fixation instability and infantile strabismus could be played by the feedback control of eye movements and by dysfunction of eye muscle proprioception during the critical period of development of the visual sensory system. A possible role in the onset, maintenance, or worsening of the deviation of abnormalities of muscle force which have their clinical equivalent in eye muscle overaction and underaction has been investigated under either isometric or isotonic conditions, and in essence no significant anomalies of muscle force have been found in concomitant strabismus. PMID:27006860

  4. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    PubMed Central

    Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

    2006-01-01

    Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

  5. [Longitudinal study on infantile nocturnal sleep-wake pattern developmental trajectory with Actiwatch].

    PubMed

    Huang, Xiaona; Feng, Weiwei; Zhao, Yantao; Wang, Huishan; Liu, Xicheng; Liu, Minna; Xu, Haiqing; Wu, Hong; Wang, Nianrong; Zhang, Fenghua; Liu, Wenlong; Tang, Jianbo; Li, Honghui; Wang, Liyan; Zhang, Liangfen

    2015-06-01

    To understand the infantile nocturnal sleep-wake pattern developmental trajectory with Actiwatch, which would benefit the clinical assessment of infantile sleep. This study was a longitudinal study conducted between 7 Oct, 2009-30 Oct, 2011 in 10 hospitals of 9 cities of China ( Beijing, Xi'an, Qingdao, Wuhan, Changsha, Chongqing, Huzhou, Xiamen and Liuzhou). Actiwatch was used to track the sleep-wake pattern development trajectory of healthy infants in the first year of life in the home setting. Participating infants were followed up at 10th day and 28th day during the first month, and then monthly from the second to the sixth month after birth, and then at ninth and twelve months of age respectively. Meanwhile, infantile sleep was observed continuously for about 60 hours at each visit. According to the characteristics of repeated measurement data of this study, two-level random effect model was adopted to analyze the trend of infantile nocturnal sleep-wake parameters changing with age, and the gender difference. A total of 473 healthy infants were included in this study, among whom 246 (52.0%) were boys, and 227 (48.0%) were girls; 355 (75.1%) infants completed the whole year follow-up survey. With infants' age increasing, the latency of infants' nighttime sleep onset decreased from 66.8 minutes on 10th day to 15.5-18.7 minutes at 6-12 months of age. The number of night wakes also decreased with age, while uninterrupted sleep periods lengthened with age. On the 10th day, there were 3.0 times of nightwaking on average, and the longest continuous sleeping interval lasted for 227.6 minutes on average. At 12-month of age, infants could sleep continuously for 350.9 minutes at most on average, while the number of nightwaking decreased to 1.6 times per night on average. Generally, nighttime sleep efficiency increased from 66.3% on the 10th day to 86.3% at 12-month of age. The differences of sleep-wake patterns between boys and girls presented as boys' nocturnal longest

  6. Infantile tauopathies: Hemimegalencephaly; tuberous sclerosis complex; focal cortical dysplasia 2; ganglioglioma.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2015-06-01

    Tau is a normal microtubule-associated protein; mutations to phosphorylated or acetylated forms are neurotoxic. In many dementias of adult life tauopathies cause neuronal degeneration. Four developmental disorders of the fetal and infant brain are presented, each of which exhibits up-regulation of tau. Microtubules are cytoskeletal structures that provide the strands of mitotic spindles and specify cellular polarity, growth, lineage, differentiation, migration and axonal transport of molecules. Phosphorylated tau is abnormal in immature as in mature neurons. Several malformations are demonstrated in which upregulated tau may be important in pathogenesis. All produce highly epileptogenic cortical foci. The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutant AKT3 or AKT1 gene as the aetiology of focal somatic mosaicism in the periventricular neuroepithelium. HME may be isolated or associated with neurocutaneous syndromes, particularly epidermal naevus syndromes, also due to somatic mutations. Other tauopathies of early life include: (2) tuberous sclerosis complex; (3) focal cortical dysplasia type 2b (FCD2b); and (4) ganglioglioma, a tumor with dysplastic neurons and neoplastic glial cells. Pathological tau in these infantile cases alters cellular growth and architecture, synaptic function and tissue organization, but does not cause neuronal loss. All infantile tauopathies are defined neuropathologically as a tetrad of (1) dysmorphic and megalocytic neurons; (2) activation of the mTOR signaling pathway; (3) post-zygotic somatic mosaicism; and (4) upregulation of phosphorylated tau. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. HME and FCD2b may be the same disorder with different timing of the somatic mutation in the mitotic cycles of the neuroepithelium. Tauopathies must be considered in infantile neurological disease and no longer

  7. Weather- and population density-induced infantilism in the landsnail Theba pisana in a semi-arid climate

    NASA Astrophysics Data System (ADS)

    Moran, Shmuel

    1989-06-01

    Natural populations of the landsnail Theba pisana (Pulmonata: Helicidae) were studied in the Mediterranean coastal plains of Israel. The life cycle is annual. Egg-laying occurs in the winter and the descendants grow fast during the spring, except for a part of the population the ceases growing. These individuals, termed “infantiles”, retain immature size and shape and a rudimentary status of the genital system. The percentage of infantilism in the population is positively related to the density of the snail population in the winter, and is negatively related to the humidity of weather in the spring. A natural control mechanism of T. pisana populations is proposed: (a) in a dense population of young snails infantilism prevents most of them from becoming parents and an over-sized population the following year; (b) in a humid spring a fall in the rate of infantilism enlarges the population size, thus compensating for reduced egg-laying in winter.

  8. Comparison of the serum cytokine levels before and after adrenocorticotropic hormone (ACTH) therapy in patients with infantile spasm.

    PubMed

    Türe, Esra; Kamaşak, Tülay; Cora, Merve; Şahin, Sevim; Arslan, Elif Acar; Kaklıkaya, Neşe; Cansu, Ali

    2016-10-01

    Infantile spasm is an age-dependent epileptic syndrome seen in infancy or early childhood. Although studies have investigated the epilepsy-cytokine relationship, there has been insufficient research into the relation between cytokines and infantile spasm. The purpose of this study was to examine the role of cytokines in the pathogenesis of infantile spasm by investigating cytokine levels before and 1month after adrenocorticotropic hormone (ACTH) therapy in patients diagnosed with the condition. Twenty patients aged between 1month and 2years and diagnosed with infantile spasm at the Karadeniz Technical University Medical Faculty Department of Child Health and Diseases Pediatric Neurology Clinic, Turkey, and 20 healthy children were included in the study. Patients received 11 doses of ACTH on 2days a week. Levels of TNF-alpha and IL-2, the main cytokines involved in inflammation and recently associated with infantile spasm, and of IL-1beta, IL-6 and IL-17A, associated with epileptic seizures, and serum levels of the IL-17A activator IL-23 were investigated in all patients at the start of treatment and 1month after completion of treatment. No statistically significant difference was observed between pre- and post-treatment patient group and control group IL-1beta, IL-2, IL-23 or TNF-alpha levels. Pre-treatment IL-6 and IL-17A levels were significantly higher in the untreated patient group compared to the healthy control group (p<0.001 and p=0.002). Our study supports the recent idea that IL-6 and IL-17A are cytokines involved in the pathogenesis of infantile spasm. Copyright © 2016. Published by Elsevier Ltd.

  9. [An introduction to literature on infantile asthmatic coughing in the period of Sui - Tang to Song dynasties].

    PubMed

    Wan, F; Liu, Y

    2000-07-01

    Records in Zhu bing yuan hou lun are the primary accumulation of materials on infantile asthmatic coughing. The material from Bei ji qian jin yao fang and Qian jin yi fang were based on the author's life - long practical experience and applied by later generations. The guideline based on differential diagnosis of zheng for treating this ailment was established by Xiao er yao zheng zhi jue. While You you xin shu contains the most rich and detailed materials for this ailment before the Song dynasty, which, exerting profound influence on later generations in this field, is a milestone in the history of academic development of infantile asthmatic coughing.

  10. [Work and health of the Cordoba National University teachers: medicaments/legal drugs use and infantile-maternal plan].

    PubMed

    Giacone, Marta Susana; Costa, Maria Cristina Silva

    2004-01-01

    This study aimed to investigate university teachers in reproductive age--life conditions, work and health process and medicaments use. Beside, aimed research the use, opinions and suggestions of Infantile-Maternal Plan of the University Social Assistance clients. In dialectic and historic materialism theory and method way, this is a social research developed by a strategic and correlative-descriptive fieldwork with 50 persons sample. The results showed degraded work and life conditions, affecting the teachers' health profile and medicaments use. The Infantile-Maternal Plan is good or very good and demands best information accord the teachers in high percent opinion.

  11. Psoriasiform Diaper Rash Possibly Induced by Oral Propranolol in an 18-Month-Old Girl with Infantile Hemangioma.

    PubMed

    Baggio, Raphaëlle; Le Treut, Claire; Darrieux, Laure; Vareliette, Amélie; Safa, Gilles

    2016-01-01

    Propranolol, a nonselective blocker of β-adrenergic receptors, has become the first-line treatment for complicated infantile hemangiomas. Therefore, its use in the pediatric population has expanded in recent years. In adults, β-blockers have been reported to be the most common causative agents for drug-induced psoriasis. In infants treated with propranolol for infantile hemangioma, the onset of psoriasiform diaper rash has not yet been reported. Here, to the best of our knowledge, we report the first case of psoriasiform diaper rash possibly induced by oral propranolol in an 18-month-old girl with no family history of psoriasis.

  12. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

    PubMed

    Biancheri, Roberta; Rossi, Andrea; Alpigiani, Giannina; Filocamo, Mirella; Gandolfo, Carlo; Lorini, Renata; Minetti, Carlo

    2007-05-01

    Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5' splice site mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal cerebellar cortex signal intensity. The absence of the signal hyperintensity of the cerebellar cortex does not rule out the diagnosis of INAD.

  13. Psoriasiform Diaper Rash Possibly Induced by Oral Propranolol in an 18-Month-Old Girl with Infantile Hemangioma

    PubMed Central

    Baggio, Raphaëlle; Le Treut, Claire; Darrieux, Laure; Vareliette, Amélie; Safa, Gilles

    2016-01-01

    Propranolol, a nonselective blocker of β-adrenergic receptors, has become the first-line treatment for complicated infantile hemangiomas. Therefore, its use in the pediatric population has expanded in recent years. In adults, β-blockers have been reported to be the most common causative agents for drug-induced psoriasis. In infants treated with propranolol for infantile hemangioma, the onset of psoriasiform diaper rash has not yet been reported. Here, to the best of our knowledge, we report the first case of psoriasiform diaper rash possibly induced by oral propranolol in an 18-month-old girl with no family history of psoriasis.

  14. [The use of the transcranial micropolarization method for decreasing the manifestations of hyperkinesis in patients with infantile cerebral palsy].

    PubMed

    Bogdanov, O V; Pinchuk, D Iu; Pisar'kova, E V; Sheliakin, A M; Sirbiladze, K T

    1993-01-01

    Transcranial micropolarization was used in the treatment of children with hyperkinetic form of infantile cerebral paralysis. The method was found to be more effective than various stereotaxic interventions on the brain or routine physiotherapy. Transcranial micropolarization exposure resulted in alleviation of hyperkinesis, posture-tonic reflexes, in improvement of active movements of the joints, supporting system, etc. Clinical status of patients exposed to this treatment modality improved by six times as against those treated traditionally. Clinical data and data of stimulation electromyography permit us to suggest a possible effect of transcranial micropolarization on the function of cerebral subcortical structures in patients with hyperkinetic form of infantile cerebral paralysis.

  15. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

    PubMed

    Sudo, Akira; Hayashi, Yukiko; Sano, Hitomi; Kawamura, Nobuaki; Nishino, Ichizo; Nonaka, Ikuya

    2013-11-01

    Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical "floppy infant" at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage;therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems;however he unexpectedly died at the age of 15 months. Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation.

  16. Long-term impact of infantile short bowel syndrome on nutritional status and growth.

    PubMed

    Olieman, Joanne F; Penning, Corine; Spoel, Marjolein; Ijsselstijn, Hanneke; van den Hoonaard, Thelma L; Escher, Johanna C; Bax, Nikolaas M A; Tibboel, Dick

    2012-05-01

    Short-term bowel adaptation has been documented, but data on long-term effects are scarce. The aim of the present study was to evaluate the long-term consequences of infantile short bowel syndrome (SBS). A cross-sectional assessment (2005-7) of growth, nutritional status, defecation pattern and health status in individuals with a history of infantile SBS, born between 1975 and 2002, were performed. Data were compared with reference values of healthy controls and presented as means and standard deviations or median and ranges. A total of forty subjects (sixteen male and twenty-four female; mean age 14·8 (SD 6·8) years) had received parenteral nutrition during a median of 110 (range 43-2345) d, following small bowel resection. The mean standard deviation scores (SDS) for weight for height and target height (TH) of the children were normal; mean SDS for height for age was - 0·9 (SD 1·3). The median BMI adults was 19·9 (range 17-26) kg/m2; mean SDS for height for age was - 1·0 (range - 2·5 to 1·5). Height in general was significantly shorter than TH, and 53 % of children and 78 % of adults were below TH range. Most subjects had normal body fat percentage (%BF). SDS for total body bone mineral density were generally normal. The SDS for bone mineral content (BMC) of the children were - 1·0 (SD 1·1). Mean energy intake was 91 % of the estimated average requirements. The frequencies of defecation and bowel complaints of the subjects were significantly higher than in healthy controls. In conclusion, infantile SBS results in shorter stature than was expected from their calculated TH. BMC was lower than reference values, but the subjects had normal weight for height and %BF.

  17. Corticosteroid Suppression of VEGF-A in Infantile Hemangioma-Derived Stem Cells

    PubMed Central

    Greenberger, Shoshana; Boscolo, Elisa; Adini, Irit; Mulliken, John B.; Bischoff, Joyce

    2010-01-01

    BACKGROUND Corticosteroids are commonly used to treat infantile hemangioma, but the mechanism of action of this therapy is unknown. We investigated the effect of corticosteroids in a previously described in vivo model of infantile hemangioma and in cultured hemangioma-derived cells. METHODS We tested hemangioma-derived stem cells for vasculogenic activity in vivo after implantation into immune-deficient (nude) mice. We studied dexamethasone treatment of both the cells before implantation and the mice after implantation. We also tested hemangioma-derived stem cells for expression of vascular endothelial growth factor A (VEGF-A) in vitro and studied the inhibition of VEGF-A expression, using short hairpin RNA (shRNA) in vivo and in vitro. RESULTS Systemic treatment with dexamethasone led to dose-dependent inhibition of tumor vasculogenesis in the murine model. Pretreatment of hemangioma-derived stem cells in vitro before implantation also inhibited vasculogenesis. Dexamethasone suppressed VEGF-A production by hemangioma-derived stem cells in vitro but not by hemangioma-derived endothelial cells or human umbilical-vein endothelial cells. Silencing VEGF-A in hemangioma-derived stem cells reduced vasculogenesis in vivo. VEGF-A was detected in hemangioma specimens in the proliferating phase but not in the involuting phase and was shown by immunostaining to reside outside of vessels. Corticosteroid treatment suppressed other proangiogenic factors in hemangioma-derived stem cells, including urokinase plasminogen activator receptor, interleukin-6, monocyte chemoattractant protein 1, and matrix metalloproteinase 1. CONCLUSIONS In a murine model, dexamethasone inhibited the vasculogenic potential of stem cells derived from human infantile hemangioma. The corticosteroid also inhibited the expression of VEGF-A by hemangioma-derived stem cells, and silencing of VEGF-A expression in these cells inhibited vasculogenesis in vivo. PMID:20237346

  18. Prognostic factors of infantile spasms: role of treatment options including a ketogenic diet.

    PubMed

    Lee, Jeehun; Lee, Jun Hwa; Yu, Hee Jun; Lee, Munhyang

    2013-09-01

    The aim of this study was to provide additional evidences on prognostic factors for infantile spasms and the possible role of a ketogenic diet. A retrospective analysis was performed for patients with infantile spasms who had been followed up for more than 6months between January 2000 and July 2012 at Samsung Medical Center (Seoul, Republic of Korea). We analyzed the association between possible prognostic factors and seizure/developmental outcomes. Sixty-nine patients were included in this study and their mean follow-up duration was 52.5 (9-147) months. In the patients who had been followed up for more than 2years, 53.6% (n=30/57) remained seizure-free at the last visit. Sixty patients (86.9%) showed developmental delay at last follow-up. Forty-two patients (60.9%) became spasm-free with one or two antiepileptic drugs, one patient with epilepsy surgery for a tumor, and seven patients with a ketogenic diet after the failure of two or more antiepileptic drugs. The etiology and age of seizure onset were the significant prognostic factors. In this study, about 60% of the patients became spasm-free with vigabatrin and topiramate. Ketogenic diet increased the rate by 10% in the remaining antiepileptic drug resistant patients. However, 86.9% of the patients showed developmental delay, mostly a severe degree. Early diagnosis and prompt application of treatment options such as antiepileptic drugs, a ketogenic diet or epilepsy surgery can improve outcomes in patients with infantile spasms. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  19. The Comparison of the Effects of Massaging and Rocking on Infantile Colic

    PubMed Central

    Nahidi, Fatemah; Gazerani, Nafiseh; Yousefi, Parsa; Abadi, Ali Reza

    2017-01-01

    Introduction: Infantile colic is a painful condition in the first months of infancy. This study was carried out with the aim of testing the hypothesis that massage treatment has a clinically relevant effect on this condition. Materials and Methods: This randomized clinical trial was conducted among 100 infants of < 12 weeks of age with infantile colic. They were randomly assigned to either infant massage (n = 50) or rocking groups (n = 50). In the massage group, trained individuals taught the parents of the infants the massage technique and gave them a brochure. Rocking group parents was recommended to rock their infants three times a day for 1 week. Parents recorded the pattern of crying (numbers, length, and severity of crying). After 1 week of intervention, data were analysed using t-test, Chi square test, and repeated measurement analysis of variance (P < 0.05). Results: Significant differences were not observed in infant and mother demographic information. Before intervention, the mean of total number, length, and severity of crying were 6.12 (1.76) time/day, 4.97 (1.37) hour/day, and 6.60 (1.54) in the massage group and 6.96 (2.9) time/day, 3 (1.31) hour/day, and 5.98 (2.22) in the rocking group, respectively. After 1 week of intervention, the mean difference of total number, length, and severity of crying were 4.08 (1.83) time/day, 2.81 (1.77) hour/day, and 2.9 (2.37) in the massage group and 0.56 (2.28) time/day, 0.27 (1.09) hour/day, and 0.02 (1.64) in the rocking group, respectively. Conclusions: This trial of massage treatment for infantile colic showed statistically significant or clinically relevant effect in comparison with the rocking group. PMID:28382062

  20. Earlier infantile immune maturation is related to higher DTP vaccine responses in children

    PubMed Central

    Strömbeck, Anna; Lundell, Anna-Carin; Nordström, Inger; Andersson, Kerstin; Adlerberth, Ingegerd; Wold, Agnes E; Rudin, Anna

    2016-01-01

    There are large inter-individual variations in vaccine-specific antibody responses in children. We sought to investigate whether early-life environmental factors and/or adaptive immune maturation were related to diphtheria–tetanus–pertussis (DTP) vaccine-specific antibody levels at 18 months of age. In the prospective FARMFLORA birth-cohort, including both farming and non-farming families, children were immunized with DTP vaccine at 3, 5 and 12 months of age. DTP vaccine-induced antibody levels were measured in plasma at 18 months of age. Infants' blood samples obtained at birth, 3–5 days, 4, 18 and 36 months and at 8 years of age were analyzed for total CD4+ T- and B-cell counts, proportions of naïve and memory T and B cells, and fractions of putative regulatory T cells by flow cytometry. Multivariate factor analysis was used to examine associations between immune variables and vaccine responses. The most apparent multivariate pattern was that higher anti-DTP antibody titers at 18 months of age were associated with lower infantile total counts of T and B cells in the blood. Furthermore, lower infantile total T- and B-cell blood counts were associated with higher proportions of circulating CD45RO+ memory T cells and to lower proportions of α4β7+ naïve T cells later in childhood. The multivariate findings were corroborated in univariate correlation analyses. Sex, delivery mode and dairy farm exposure were unrelated to the magnitude of DTP-specific antibody responses. Our results thus suggest that children with a more mature/activated infantile adaptive immunity respond with higher vaccine-induced anti-DTP antibody levels at 18 months of age. PMID:27217956

  1. Earlier infantile immune maturation is related to higher DTP vaccine responses in children.

    PubMed

    Strömbeck, Anna; Lundell, Anna-Carin; Nordström, Inger; Andersson, Kerstin; Adlerberth, Ingegerd; Wold, Agnes E; Rudin, Anna

    2016-03-01

    There are large inter-individual variations in vaccine-specific antibody responses in children. We sought to investigate whether early-life environmental factors and/or adaptive immune maturation were related to diphtheria-tetanus-pertussis (DTP) vaccine-specific antibody levels at 18 months of age. In the prospective FARMFLORA birth-cohort, including both farming and non-farming families, children were immunized with DTP vaccine at 3, 5 and 12 months of age. DTP vaccine-induced antibody levels were measured in plasma at 18 months of age. Infants' blood samples obtained at birth, 3-5 days, 4, 18 and 36 months and at 8 years of age were analyzed for total CD4(+) T- and B-cell counts, proportions of naïve and memory T and B cells, and fractions of putative regulatory T cells by flow cytometry. Multivariate factor analysis was used to examine associations between immune variables and vaccine responses. The most apparent multivariate pattern was that higher anti-DTP antibody titers at 18 months of age were associated with lower infantile total counts of T and B cells in the blood. Furthermore, lower infantile total T- and B-cell blood counts were associated with higher proportions of circulating CD45RO(+) memory T cells and to lower proportions of α4β7(+) naïve T cells later in childhood. The multivariate findings were corroborated in univariate correlation analyses. Sex, delivery mode and dairy farm exposure were unrelated to the magnitude of DTP-specific antibody responses. Our results thus suggest that children with a more mature/activated infantile adaptive immunity respond with higher vaccine-induced anti-DTP antibody levels at 18 months of age.

  2. Parents' experience of living with a baby with infantile colic--a phenomenological hermeneutic study.

    PubMed

    Landgren, Kajsa; Hallström, Inger

    2011-06-01

    About 10% of newborn babies have infantile colic which means that they cry more than 3 hours per day. The baby's crying risks disturbing the early parent-child interaction. This study aimed to illuminate the meaning of being a parent of a baby with infantile colic. An inductive qualitative interview study. Twenty-three parents (12 mothers and 11 fathers) seeking help for infantile colic at a Child Health Clinic in south Sweden, having verified in a diary their babies' crying to more than 3 hours/day, were individually interviewed between March 2006 and April 2007. Parents were selected to ensure variation in age and gender and if they were first-time parents. Parent's narratives were analysed using a phenomenological hermeneutic method. The main theme found was 'Colic overshadows everything'. Tired and worried parents experienced living in an inferno. Both fathers and mothers suffered with their babies, felt powerless and overwhelmed by strong feelings and neglected their other needs. To get through this period, parents used various strategies to ease their baby's pain. Parents forced themselves not to lose control, to keep a stiff upper lip and generally to bear up. Sharing the burden was important. In spite of the suffering, they also felt hope, happiness and gratitude that they had a healthy baby. The results were reflected upon in relation to systems theory, attachment theory and a theory of interpersonal aspects of nursing. It is an important task for professionals to empower parents and help them to endure the colic period and to gain higher self-esteem as parents. By listening to the parents' stories they can better understand their situation, offer support and increase self-efficacy. © 2010 The Authors. Scandinavian Journal of Caring Sciences © 2010 Nordic College of Caring Science.

  3. A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

    PubMed Central

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

    2015-01-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

  4. First report of congenital or infantile cataract in deranged proteoglycan metabolism with released xylose

    PubMed Central

    Sulochana, K; Ramakrishnan, S; Vasanthi, S; Madhavan, H; Arunagiri, K; Punitham, R

    1997-01-01

    AIM—To investigate the chemical pathology in the blood and lens, in cases of congenital or infantile cataract in children excreting predominantly non-reducing carbohydrates in urine.
METHODS—Urine samples from children with congenital or infantile cataract, and age and sex-matched controls, were analysed for (i) inherited errors of metabolism, (ii) paper chromatography of sugars, (iii) spectrophotometric assay of glycosaminoglycans (GAG), (iv) cetyl trimethyl ammonium bromide test, (v) electrophoresis using Alcian blue, (vi) ion exchange chromatography with IR 120 resin, and (vii) HPLC for xylose. Blood and lens material were also tested for GAG fragments and xylose. β Glucuronidase was assayed in lymphocytes and urine.
RESULTS—Of 220 children of both sexes below 12 years of age, with congenital or infantile cataract treated in Sankara Nethralaya, Madras, India, during a period of 2 years, 145 excreted fragments of GAG (heparan and chondroitin sulphates) in their urine. There was no such excretion among the control group of 50 children. The same was found accumulated in the blood and lenses of affected children. In addition, xylose was present in small amounts in the urine and blood and xylitol was present in the lens. There was a significant elevation in the activity of β glucuronidase in lymphocytes and urine, when compared with normals. All the above findings suggest deranged proteoglycan metabolism. As the urine contained mostly GAG fragments and very little xylose, Benedict's reagent was not reduced. This ruled out galactosaemia.
CONCLUSION—An increase of β glucuronidase activity might have caused extensive fragmentation of GAG with resultant accumulation in the blood and lens and excretion in urine. Small amounts of xylose may have come from xylose links between GAG and core protein of proteoglycans. Owing to their polyanionic nature, GAG fragments in the lens might abstract sodium, and with it water, thereby increasing the hydration

  5. Pediatric oncology at Hospital Infantil de Mexico: fifty-five years of accomplishment.

    PubMed

    Medina-Sanson, A; Martínez-Avalos, A; Gallegos-Castorena, S; Juárez-Villegas, L E; González-Montalvo, P; Perales-Arroyo, A; Gallegos-González, E; Ayometzi-Ouchi, M T

    2002-09-01

    The Department of Oncology at Hospital Infantil de México Federico Gómez (HIMFG) was the first unit in our country, and one of the first in Latin America, to specialize in the management of children with cancer. The HIMFG is part of the National Institutes of Health of Mexico, and is a reference hospital with research, educative, and tertiary care medical function. To date, the HIMFG and the Instituto Nacional de Pediatria are the principal medical centers in which children with cancer receive comprehensive care.

  6. Visual Outcomes and Complications of Piggyback Intraocular Lens Implantation Compared to Aphakia for Infantile Cataract

    PubMed Central

    Joshaghani, Mahmood; Soleimani, Mohammad; Foroutan, Alireza; Yaseri, Mehdi

    2015-01-01

    Purpose: To evaluate the long-term visual outcomes and complications of the piggyback intraocular lens (IOL) implantation compared to aphakia for infantile cataract. Patients and Methods: In a comparative study from 1998 to 2007, piggyback IOL implantation (piggyback IOL group) was performed for 14 infants (23 eyes) with infantile cataract and 20 infants (32 eyes) who were aphakic (aphakia group) after infantile cataract surgery. Data were collected on logMAR visual acuity, and postoperative complications over a mean follow-up time of 6.2 ± 1.7 years and 5.8 ± 1.7 years. Results: The mean age at surgery was 7.5 ± 0.6 months and 6.0 ± 3.3 months for the piggyback and the aphakic group respectively (P > 0.05). At the last follow-up visit, visual acuity was 0.85 ± 0.73 (median = 0.70, interquartile range = 0.3–1.32) in the piggyback IOL group and 0.89 ± 0.56 (median = 0.86, interquartile range = 0.50–1.24) in the aphakic group (P > 0.05). There was a positive relationship between age and visual outcomes in the aphakic group (r = 0.4, P = 0.04) but not in the piggyback IOL group (P = 0.48). There was no significant difference between the mean myopic shift in the piggyback IOL group (∑5.28 ± 1.06 D) and the aphakic group (∑5.10 ± 1.02 D) (P > 0.05). The incidence of reoperation due to complications in piggyback IOL group was higher than aphakic group (%48 vs. %16, respectively, P ≤ 0.01). However, in patients older than 6 months, this risk was not significantly different compared to the aphakic group. Conclusions: Although piggyback IOL implantation for infantile cataract is optically acceptable as a treatment option, there is no significant difference in visual outcomes compared to aphakia. The incidence in reoperation due to complications in patients aged 6 months or younger is higher than those treated with aphakia. PMID:26692724

  7. Visual Outcomes and Complications of Piggyback Intraocular Lens Implantation Compared to Aphakia for Infantile Cataract.

    PubMed

    Joshaghani, Mahmood; Soleimani, Mohammad; Foroutan, Alireza; Yaseri, Mehdi

    2015-01-01

    To evaluate the long-term visual outcomes and complications of the piggyback intraocular lens (IOL) implantation compared to aphakia for infantile cataract. In a comparative study from 1998 to 2007, piggyback IOL implantation (piggyback IOL group) was performed for 14 infants (23 eyes) with infantile cataract and 20 infants (32 eyes) who were aphakic (aphakia group) after infantile cataract surgery. Data were collected on logMAR visual acuity, and postoperative complications over a mean follow-up time of 6.2 ± 1.7 years and 5.8 ± 1.7 years. The mean age at surgery was 7.5 ± 0.6 months and 6.0 ± 3.3 months for the piggyback and the aphakic group respectively (P > 0.05). At the last follow-up visit, visual acuity was 0.85 ± 0.73 (median = 0.70, interquartile range = 0.3-1.32) in the piggyback IOL group and 0.89 ± 0.56 (median = 0.86, interquartile range = 0.50-1.24) in the aphakic group (P > 0.05). There was a positive relationship between age and visual outcomes in the aphakic group (r = 0.4, P = 0.04) but not in the piggyback IOL group (P = 0.48). There was no significant difference between the mean myopic shift in the piggyback IOL group (-5.28 ± 1.06 D) and the aphakic group (-5.10 ± 1.02 D) (P > 0.05). The incidence of reoperation due to complications in piggyback IOL group was higher than aphakic group (%48 vs. %16, respectively, P ≤ 0.01). However, in patients older than 6 months, this risk was not significantly different compared to the aphakic group. Although piggyback IOL implantation for infantile cataract is optically acceptable as a treatment option, there is no significant difference in visual outcomes compared to aphakia. The incidence in reoperation due to complications in patients aged 6 months or younger is higher than those treated with aphakia.

  8. Infantile and juvenile scoliosis: the crooked path to diagnosis and treatment.

    PubMed

    Wick, Jane Maureen; Konze, Julie; Alexander, Kelly; Sweeney, Chris

    2009-09-01

    Most cases of scoliosis are diagnosed and treated during adolescence; many are detected in school screening programs. For a small percentage of children, however, the onset of scoliosis occurs much earlier than adolescence.Infantile scoliosis (ie, onset from birth to two years of age) and juvenile scoliosis (ie, onset from three to nine years of age) involve very different diagnoses and treatment regimens than adolescent scoliosis. Early onset scoliosis may resolve with growth or may require nonsurgical treatment (eg, orthosis, body cast); surgical intervention (eg, halo traction, growing rods, vertical expandable prosthetic titanium rib); or a combination of both.

  9. [Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

    PubMed

    Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

    2009-11-01

    The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

  10. Educational paper: therapy of infantile haemangioma--history and current state (part II).

    PubMed

    Janmohamed, Sherief R; Madern, Gerard C; de Laat, Peter C J; Oranje, Arnold P

    2015-02-01

    Infantile haemangioma (IH) is the most frequent tumour of infancy. Although it is benign and self-limiting, severe complications can arise due to localisation and fast tumour growth. Also, IHs leave scars after regression in more than half of the cases. Management and therapy of IH have changed greatly after 2008. This update provides an overview of the older therapy options before 2008, which mainly consisted of the administration of corticosteroids, and discusses the modern management with new therapy options such as β-blockers (both systemically and topically). β-blockers are promising and are currently preferred above corticosteroids, but β-blockers still do not give a definitive treatment.

  11. Propagation of infantile gastroenteritis virus (orbi-group) in conventional and germfree piglets.

    PubMed Central

    Middleton, P J; Petric, M; Szymanski, M T

    1975-01-01

    Infantile gastroenteritis virus (orbi-group) recovered from stools of infants with acute nonbacterial gastroenteritis was administered per os to germfree and conventional piglets. Virus was found subsequently in stools and in the mucosal epithelial cells of the small intestine of these animals. Some animals developed diarrhea. Added proof of orbivirus replication was obtained through the use of tritiated uridine injections and the recovery of labeled virus in gut contents at the time of autopsy. Serological conversion was demonstrated in infected germfree piglets. Images PMID:1239420

  12. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    PubMed

    Hitomi, Yuki; Heinzen, Erin L; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A; McMahon, Jacinta M; Berkovic, Samuel F; Scheffer, Ingrid E; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B; Van Bogaert, Patrick; Depondt, Chantal

    2013-09-01

    We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients.

  13. Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

    PubMed Central

    Hitomi, Yuki; Heinzen, Erin L.; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A.; McMahon, Jacinta M.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B.; Van Bogaert, Patrick; Depondt, Chantal

    2013-01-01

    We identified a small family with autosomal recessive, infantile-onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients. PMID:23686771

  14. [Children with infantile haemangiomas should be worked-up for PHACE syndrome].

    PubMed

    Bertelsen, Trine; Salskov-Iversen, Maria Luise; Stausbøl-Grøn, Birgitte; Hedelund, Lene

    2013-09-09

    Infantile haemangiomas are the most common tumours in infants. Large facial haemangiomas are associated with posterior fossa malformations, haemangiomas, arteriel malformations, cardiac defects and eye anomalies (PHACE) syndrome in 20-31%. The diagnosis requires a large facial haemangiom and the minimum of one extracutaneous manifestation. Infants with large facial haemangiomas are in risk of PHACE syndrome and need to be referred to paediatric expertise. This case represents an infant with a large facial haemangioma, who was diagnosed with a coarctatio aortae and hence the PHACE syndrome.

  15. A hydrogel-endothelial cell implant mimics infantile hemangioma: modulation by survivin and the Hippo pathway.

    PubMed

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A

    2015-07-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels, and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared with infantile hemangiomas, similarities were noted, including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase, mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP, and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2-week time point in our implant model that correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative-phase hemangiomas. At the 4-week time point in our implant model, only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional-phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioendothelioma cell tissue culture) may have potential as other beneficial treatments for proliferating

  16. Infantile Hemangiomas: An Updated Review on Risk Factors, Pathogenesis, and Treatment.

    PubMed

    Smith, Chelsey J Forbess; Friedlander, Sheila Fallon; Guma, Monica; Kavanaugh, Arthur; Chambers, Christina D

    2017-04-12

    Infantile hemangiomas (IHs) are the most common vascular tumors in infants, appearing in early infancy and ultimately regressing with time. Clinical presentation may vary, with a minority of lesions causing impairment of vital function (e.g., respiratory or visual obstruction), permanent scarring, and/or disfigurement. The pathogenesis of IH is complex and poorly understood. Risk factors implicated in their development include preterm birth and placental anomalies. IH presents a myriad of clinical challenges, including correct diagnosis and whether or not to pursue treatment. This article is a review of the current literature regarding pathogenesis, clinical presentation, treatment, and prognosis of IH. Birth Defects Research, 2017.© 2017 Wiley Periodicals, Inc.

  17. A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

    2013-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

  18. Radiological Changes in Infantile Dissecting Anterior Communicating Artery Aneurysm Treated Endovascularly

    PubMed Central

    Yatomi, Kenji; Oishi, Hidenori; Yamamoto, Munetaka; Suga, Yasuo; Nonaka, Senshu; Yoshida, Kensaku; Arai, Hajime

    2014-01-01

    Summary Intracranial aneurysms are extremely rare in infants, and to our knowledge only seven infants treated for ruptured spontaneous dissecting aneurysms have been reported. Good outcomes have been achieved with endovascular treatment of infantile aneurysm. We the endovascular treatment of a one-month-old girl for ruptured dissecting aneurysm located in the anterior communicating artery, and the unique radiological changes that were observed during the perioperative and follow-up periods. These changes suggest that blood coagulation and fibrinolytic response play a part in the repair and healing processes of dissecting aneurysms. Careful neuroradiological surveys are needed for pediatric dissecting aneurysms treated endovascularly. PMID:25496693

  19. Hypofibrinogenemia caused by adrenocorticotropic hormone for infantile spasms: a case report.

    PubMed

    Kamei, Atsushi; Araya, Nami; Akasaka, Manami; Mizuma, Kanako; Asami, Maya; Tanifuji, Sachiko; Chida, Shoichi

    2015-01-01

    We report the case of a 7-month-old boy who developed hypofibrinogenemia (66.6 mg/dL; reference value, 170-405 mg/dL) during adrenocorticotropic hormone (ACTH) therapy for infantile spasms. Although the patient showed no clinical signs of a bleeding diathesis, we recommend that plasma fibrinogen levels should be monitored during ACTH therapy, which should be discontinued when fibrinogen levels fall below hemostatic levels (60.0mg/dL) or when bleeding tendencies are recognized.

  20. Simple Preparation of Timolol 0.5% Gel from Eye Drop Solution for Superficial Infantile Hemangiomas.

    PubMed

    Choo, Winnie

    2017-01-01

    The discovery of beta-adrenergic blocker effects on infantile hemangiomas has affected the choice of treatment in recent years. Oral propranolol is effective in treating infantile hemangiomas, but the risk of systemic side effects remains a concern. Data from literature review reported positive clinical outcomes with no major adverse effects observed in children using topical beta-blocker such as timolol maleate. Topical application of timolol eye drop has been mentioned in few studies, most of which reported that the solution cannot stay on the site of application due to its fluidity. Adding hydroxyethyl cellulose into a timolol solution increased its viscosity by forming a hydrogel and thus changed the rheology property. The compounded timolol gel exhibited thixotropy property allowing better and longer contact at sites of application. Experimental data from literature review showed desirable characteristics and measurable flux of timolol across human stratum corneum. Gel dosage form allows easy and precise application and maximizes timolol's therapeutic efficacy at the sites of application. Copyright© by International Journal of Pharmaceutical Compounding, Inc.

  1. A novel topical nano-propranolol for treatment of infantile hemangiomas.

    PubMed

    Chen, Zheng Gang; Zheng, Jia Wei; Yuan, Ming Lu; Zhang, Ling; Yuan, Wei En

    2015-07-01

    Topical propranolol has been used for the therapy of superficial infantile hemangiomas (IH). A retrospective investigation was conducted in 50 patients to evaluate the clinical effect of a new type of topical nano-propranolol-dispersed hydrogel. Participants were treated 3 times per day for 2 weeks to 11 months. 68% of patients were female and 12% had received other treatments before therapy. The nano-propranolol 0.5% hydrogel was initiated at a mean age of 5.010 months and for a mean duration of 3.610 months. The response rate was 86%. No recurrence and rebound growth occurred after withdrawal of hydrogel. Slight side effects (application site itching, erosion and crusting) were observed in only 2 cases. All the local irritations were evaluated as mild and were tolerated without discontinuing the medication. We suggest that topical nano-propranolol hydrogel could be an alternative option for the treatment of uncomplicated superficial IH with satisfactory tolerability and optimal effectiveness. The current recommended treatment for infantile hemangiomas is oral propranolol. Nonetheless, a small proportion of patients will have systemic side effects. In this article, the authors developed topical nano-propranolol hydrogel and tested this on clinical patients and found favorable response. Copyright © 2015 Elsevier Inc. All rights reserved.

  2. Therapeutic superiority of combined propranolol with short steroids course over propranolol monotherapy in infantile hemangioma.

    PubMed

    Aly, Mohamed M D; Hamza, Alaa F; Abdel Kader, Hesham M; Saafan, Hatem A; Ghazy, Mohamed S; Ragab, Iman A

    2015-11-01

    Infantile hemangiomas are the most common benign childhood tumor that may have functional and/or cosmetic complications. We aimed to compare the clinical efficacy of propranolol alone and propranolol primed with systemic corticosteroids on the outcome of infantile hemangioma. A prospective randomized study included 40 infants aged less than 9 months with cutaneous hemangiomas. Patients were randomly assigned into two groups: group A were given oral prednisolone for the initial 2 weeks combined with oral propranolol, while group B were given oral propranolol alone for 6 months. The median age of the studied patients was 4.5 months (ranged 4 weeks-8 months). Sequential determination of the dimensions of the hemangiomas based on direct measurement and photographic analysis were performed. A significant reduction in the size of the lesions was found in group A in the 2-, 4-, and 8-week evaluation compared to group B (p < 0.001) with no statistical difference in the ultimate 6 month response (p = 0.134). Multiple logistic regression showed that early treatment before 6 months of age (OR 9.82, p = 0.007) and combined treatment with propranolol and prednisolone (OR 10.71, p = 0.006) were the predictors of best response. Combining propranolol with corticosteroids gives a faster response and should be considered in treating life- or function-threatening hemangiomas.

  3. Early-infantile galactosialidosis: Clinical, biochemical, and molecular observations in a new patient

    SciTech Connect

    Zammarchi, E.; Donati, M.A.; Morrone, A.

    1996-08-23

    Few patients with the early-infantile form of galactosialidosis have been described to date. Presented here is the first Italian case. Fetal hydrops was detected by ultrasound at week 24 of gestation. At birth, the infant presented with hypotonial, massive edema, a flattened coarse facies. telangiectasias, and hepatosplenomegaly, but no dysostosis multiplex. The patient died 72 days postpartum. Excessive sialyloligosaccharides in urine, as well as vacuolation of lymphocytes and eosinophilic granulocytes in peripheral blood, were indicative of a lysosomal storage disease. In the patient`s fibroblasts, both {alpha}-neuraminidase and {beta}-galactosidase activities were severely reduced, and cathepsin A activity was <1% of control levels, confirming the biochemical diagnosis of galactosialidosis. However, in contrast to previously reported early-infantile cases, a normal amount of protective protein/cathepsin A mRNA was detected on Northern blots. This mutant transcript was translated into a precursor protein that was not processed into the mature enzyme and lacked both protective and catalytic activities. 28 refs., 4 figs., 1 tab.

  4. Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial

    PubMed Central

    Jung, Michael Wilhelm; Landenberger, Margarete; Jung, Tatjana; Lindenthal, Thorsten; Philippi, Heike

    2017-01-01

    [Purpose] Physical therapy is an acknowledged and frequently applied method for infantile postural asymmetry. However, there is not yet sufficient evidence for its effectiveness. [Subjects and Methods] In a randomised controlled trial, the effect of Vojta therapy versus Neurodevelopmental treatment is assessed in infants with postural asymmetry. 65 infants with postural asymmetry were recruited. 37 infants aged six to eight weeks (mean 7.38) were found to be eligible and randomly assigned to two groups, with 19 receiving Vojta and 18 Neurodevelopmental treatment. Using a standardised and blinded video-based assessment, we documented restriction in head rotation and convexity of the spine in prone and supine position before and after therapy. A reduction of at least four points (range of scale 20 points) in postural asymmetry was regarded as a clinically relevant change. [Results] On average a four-point reduction was achieved in both groups within eight weeks. A mean difference (pre-post) between the groups of −2.96 points in favour of Vojta therapy was observed. [Conclusion] While both Neurodevelopmental treatment and Vojta are effective in the treatment of infantile postural asymmetry and comparably well applied by the parents, therapeutic effectiveness is significant greater within the Vojta group. PMID:28265162

  5. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    PubMed

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  6. Glucose transporter 1-positive endothelial cells in infantile hemangioma exhibit features of facultative stem cells

    PubMed Central

    Huang, Lan; Nakayama, Hironao; Klagsbrun, Michael; Mulliken, John B.; Bischoff, Joyce

    2014-01-01

    Endothelial glucose transporter 1 (GLUT1) is a definitive and diagnostic marker for infantile hemangioma (IH), a vascular tumor of infancy. To date, GLUT1-positive endothelial cells in IH have not been quantified nor directly isolated and studied. We isolated GLUT1-positive and GLUT1-negative endothelial cells from IH specimens and characterized their proliferation, differentiation and response to propranolol, a first-line therapy for IH, and to rapamycin, an mTOR pathway inhibitor used to treat an increasingly wide array of proliferative disorders. Although freshly isolated GLUT1-positive cells, selected using anti-GLUT1 magnetic beads, expressed endothelial markers CD31, VE-Cadherin and VEGFR2, they converted to a mesenchymal phenotype after three weeks in culture. In contrast, GLUT1-negative endothelial cells exhibited a stable endothelial phenotype in vitro. GLUT1-selected cells were clonogenic when plated as single cells and could be induced to re-differentiate into endothelial cells, or into pericyte/smooth muscle cells or into adipocytes, indicating a stem cell-like phenotype. These data demonstrate that, although they appear and function in the tumor as bona fide endothelial cells, the GLUT1-positive endothelial cells display properties of facultative stem cells. Pretreatment with rapamycin for 4 days significantly slowed proliferation of GLUT1-selected cells, whereas propranolol pretreatment had no effect. These results reveal for the first time the facultative nature of GLUT1-positive endothelial cells in infantile hemangioma. PMID:25187207

  7. Treatment of infantile spasms in tuberous sclerosis complex: dismal outcomes but future hope?

    PubMed

    Ess, Kevin C

    2009-02-01

    This commentary discusses a retrospective study by Muzykewicz et al. that details EEG results from children with infantile spasms in the setting of tuberous sclerosis complex (TSC). In this study, several factors were identified as being predictive of poor cognitive outcome, including worsening degree of hypsarrhythmia, abnormalities in EEG background activity, and incomplete response to vigabatrin. Notably, the majority of patients had a poor outcome, experiencing cognitive impairment and intractable epilepsy irrespective of whether they were treated with adrenocorticotropic hormone (corticotropin) or vigabatrin, despite the fact that vigabatrin has shown promise in previous studies. However, among the entire cohort a third of patients enjoyed greater than 1 year of seizure freedom and about a quarter had either mild or no cognitive impairment at follow-up. Overall, these findings underscore the great challenges that are faced in the treatment of infantile spasms in patients with TSC. I suggest that, while vigabatrin has been shown to have impressive short-term efficacy, the intractable seizures and cognitive impairment in many patients with TSC strongly indicate that new therapies and treatment strategies are urgently needed.

  8. A retrospective study of chiropractic treatment of 276 danish infants with infantile colic.

    PubMed

    Wiberg, Karin R; Wiberg, Jesper M M

    2010-09-01

    The aim of this study was to investigate if the outcome of excessively crying infants treated with chiropractic manipulation (1) was associated with age and/or (2), at least partially, can be explained by age according to the natural decline in crying. This was a retrospective evaluation of clinical records of 749 infants from a private Danish chiropractic practice. All of the infants were healthy, thriving infants born to term within the age of 0 to 3 months who fulfilled the diagnostic criteria for excessively crying infants (infantile colic), whose parents sought chiropractic treatment. The infants were treated using chiropractic management as decided by the treating doctor of chiropractic, and changes in crying based upon the parents' report were noted as improved, uncertain, or nonrecovered. Age predictor groups were cross-tabulated against the outcome variables, and difference between classification groups was tested with χ(2) tables and confidence intervals. Slightly older age was found to be linked to excessively crying infants who experienced clinical improvement. However, no apparent link between the clinical effect of chiropractic treatment and a natural decline in crying was found for this group of infants. The findings of this study do not support the assumption that effect of chiropractic treatment of infantile colic is a reflection of the normal cessation of this disorder. Copyright © 2010 National University of Health Sciences. Published by Mosby, Inc. All rights reserved.

  9. Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    PubMed Central

    Poulton, Cathryn J.; Schot, Rachel; Kia, Sima Kheradmand; Jones, Marta; Verheijen, Frans W.; Venselaar, Hanka; de Wit, Marie-Claire Y.; de Graaff, Esther; Bertoli-Avella, Aida M.; Mancini, Grazia M.S.

    2011-01-01

    We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate early response 3 interacting protein 1 (IER3IP1) were found in patients from both families. IER3IP1 is highly expressed in the fetal brain cortex and fetal pancreas and is thought to be involved in endoplasmic reticulum stress response. We reported one of these families previously in a paper on Wolcott-Rallison syndrome (WRS). WRS is characterized by increased apoptotic cell death as part of an uncontrolled unfolded protein response. Increased apoptosis has been shown to be a cause of microcephaly in animal models. An autopsy specimen from one patient showed increased apoptosis in the cerebral cortex and pancreas beta cells, implicating premature cell death as the pathogenetic mechanism. Both patient fibroblasts and control fibroblasts treated with siRNA specific for IER3IP1 showed an increased susceptibility to apoptotic cell death under stress conditions in comparison to controls. This directly implicates IER3IP1 in the regulation of cell survival. Identification of IER3IP1 mutations sheds light on the mechanisms of brain development and on the pathogenesis of infantile epilepsy and early-onset permanent diabetes. PMID:21835305

  10. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

    PubMed

    Jain-Ghai, Shailly; Nagamani, Sandesh C Sreenath; Blaser, Susan; Siriwardena, Komudi; Feigenbaum, Annette

    2011-01-01

    Enzyme defects of the urea cycle typically present with significant hyperammonemia and its associated toxicity, in the first few months of life. However, arginase I (ARG1) deficiency, a rare autosomal recessive disorder, has classically been the exception. ARG1 deficiency usually presents later in life with spasticity, seizures, failure to thrive and developmental regression. Neonatal and early infantile presentation of ARG1 deficiency with severe hyperammonemia remains rare and only six such cases have been described. We report a severely affected infant with ARG1 deficiency who presented at 6 weeks of age with lethargy, poor feeding and severe encephalopathy caused by hyperammonemia. The clinical and biochemical features of the proband and six other previously reported cases with neonatal or infantile-onset presentation of ARG1 deficiency with hyperammonemia are reviewed. In addition, the clinical spectrum of seven previously unpublished patients with later onset ARG1 deficiency, who also experienced recurrent hyperammonemia, is presented. Several biochemical abnormalities have been postulated to play a role in the pathogenesis of the neurological changes in ARG1 deficiency including hyperargininemia, elevated guanidino compounds and elevated glutamine levels, as well as the hyperammonemia. The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs.

  11. Development and Validation of a Quality-of-Life Instrument for Infantile Hemangiomas.

    PubMed

    Chamlin, Sarah L; Mancini, Anthony J; Lai, Jin-Shei; Beaumont, Jennifer L; Cella, David; Adams, Denise; Drolet, Beth; Baselga, Eulalia; Frieden, Ilona J; Garzon, Maria; Holland, Kristin; Horii, Kimberly A; Lucky, Anne W; McCuaig, Catherine; Metry, Denise; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Siegel, Dawn; Haggstrom, Anita N

    2015-06-01

    Infantile hemangiomas (IH) are common tumors for which there is no validated disease-specific instrument to measure the quality of life in infants and their parents/caregivers during the critical first months of life. This study prospectively developed and validated a quality-of-life instrument for patients with IH and their parents/caregivers and correlated demographic and clinical features to the effects on the quality of life. A total of 220 parents/caregivers completed the 35-item Infantile Hemangioma Quality-of-Life (IH-QoL) instrument and provided demographic information. The dimensionality of the items was evaluated using factor analysis, with results suggesting four factors: child physical symptoms, child social interactions, parent emotional functioning, and parent psychosocial functioning. Each factor fit the Rasch measurement model with acceptable fit index (mean square <1.4) and demonstrated excellent internal consistency, with alpha ranging from 0.76 to 0.88. The final instrument consists of four scales with a total of 29 items. Content validity was verified by analyzing parents' responses to an open-ended question. Test-retest reliability at a 48-hour interval was supported by a total IH-QoL intraclass correlation coefficient of 0.84. Certain clinical characteristics of hemangioma, including those located on the head and neck, in the proliferative stage, and requiring treatment, are associated with a greater impact on QoL.

  12. Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

    PubMed

    Piram, M; Hadj-Rabia, S; Boccara, O; Couloigner, V; Hamel-Teillac, D; Bodemer, C

    2016-12-01

    Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course. To refine the cutaneous IH pattern at risk of subglottic IH. Prospective and retrospective review of patients with cutaneous IH involving the beard area. IHs were classified in the bilateral pattern group (BH) or in the unilateral pattern group (UH). Infantile hemangioma topography, subtype (telangiectatic or tuberous), ear, nose and throat (ENT) manifestations and subglottic involvement were recorded. Thirty-one patients (21 BH and 10 UH) were included during a 20-year span. Nineteen patients (16 BH and 3 UH) had subglottic hemangioma. BH and UH group overlap on the median pattern (tongue, gum, lips, chin and neck). Median pattern, particularly the neck area and telangiectatic subtype of IH were significantly associated with subglottic involvement. Patients presenting with telangiectatic beard IH localized on the median area need early ENT exploration. They should be treated before respiratory symptoms occur. © 2016 European Academy of Dermatology and Venereology.

  13. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

    PubMed

    Shi, Xiu-Yu; Ju, Jun; Zou, Li-Ping; Wang, Juan; Shang, Ning-Xiu; Zhao, Jian-Bo; Wang, Jing; Zhang, Jun-Yan

    2016-05-01

    Infantile spasms (IS) represent a serious epileptic syndrome, called West syndrome (WS) that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated. Recently, we proposed a hypothesis for IS under prenatal stress exposure (also called Zou's hypothesis) by correlating diverse etiologies and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms. Pregnant rats were subjected to forced swimming in cold water. Rat pups exposed to prenatal stress were administered with N-methyl-D-aspartate (NMDA). Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering adrenocorticotropin. Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy (HIE), inherited metabolic diseases, and other factors activated this disease in developmental brain. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Vojta therapy and neurodevelopmental treatment in children with infantile postural asymmetry: a randomised controlled trial.

    PubMed

    Jung, Michael Wilhelm; Landenberger, Margarete; Jung, Tatjana; Lindenthal, Thorsten; Philippi, Heike

    2017-02-01

    [Purpose] Physical therapy is an acknowledged and frequently applied method for infantile postural asymmetry. However, there is not yet sufficient evidence for its effectiveness. [Subjects and Methods] In a randomised controlled trial, the effect of Vojta therapy versus Neurodevelopmental treatment is assessed in infants with postural asymmetry. 65 infants with postural asymmetry were recruited. 37 infants aged six to eight weeks (mean 7.38) were found to be eligible and randomly assigned to two groups, with 19 receiving Vojta and 18 Neurodevelopmental treatment. Using a standardised and blinded video-based assessment, we documented restriction in head rotation and convexity of the spine in prone and supine position before and after therapy. A reduction of at least four points (range of scale 20 points) in postural asymmetry was regarded as a clinically relevant change. [Results] On average a four-point reduction was achieved in both groups within eight weeks. A mean difference (pre-post) between the groups of -2.96 points in favour of Vojta therapy was observed. [Conclusion] While both Neurodevelopmental treatment and Vojta are effective in the treatment of infantile postural asymmetry and comparably well applied by the parents, therapeutic effectiveness is significant greater within the Vojta group.

  15. Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

    PubMed

    Sahakitrungruang, Taninee; Srichomthong, Chalurmpon; Pornkunwilai, Sopon; Amornfa, Jiraporn; Shuangshoti, Shanop; Kulawonganunchai, Supasak; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

    2014-08-01

    Pituitary blastoma causing Cushing's syndrome in infancy is very rare, and its molecular pathomechanism is not well understood. Our objective was to identify genetic changes of a pituitary blastoma causing infantile-onset Cushing's syndrome in a Thai girl without a family history of cancers. Genomic DNA from both leukocytes and tumor tissues was used for whole-exome sequencing (WES) and Sanger sequencing of DICER1. The cDNA reverse-transcribed from RNA extracted from both leukocytes and tumor tissues was used for Sanger sequencing, quantitative real-time PCR (qRT-PCR), and pyrosequencing of DICER1. WES of leukocytes identified a novel heterozygous c.3046delA (p.S1016VfsX1065) mutation in the DICER1 gene. WES of the tumor tissues detected the same frameshift germline mutation and another novel somatic missense c.5438A→T (p.E1813V) mutation. Both mutations were validated by Sanger sequencing. Quantitative real-time PCR revealed that the DICER1 mRNA levels of the tumor tissues were 54% compared with those of her leukocytes. Pyrosequencing showed that the deletion allele constituted 12% and 0% of the DICER1 cDNA of the proband's leukocytes and tumor tissues, respectively. Our study extends the phenotypic and mutational spectrum of DICER1 mutations to include infantile-onset Cushing's disease and 2 novel mutations. Loss of function of both DICER1 alleles appears to be crucial to initiate tumor development.

  16. A novel mutation in COQ2 leading to fatal infantile multisystem disease.

    PubMed

    Jakobs, Bernadette S; van den Heuvel, Lambert P; Smeets, Roel J P; de Vries, Maaike C; Hien, Steffen; Schaible, Thomas; Smeitink, Jan A M; Wevers, Ron A; Wortmann, Saskia B; Rodenburg, Richard J T

    2013-03-15

    Coenzyme Q10 (ubiquinone or CoQ10) serves as a redox carrier in the mitochondrial oxidative phosphorylation system. The reduced form of this lipid-soluble antioxidant (ubiquinol) is involved in other metabolic processes as well, such as preventing reactive oxygen species (ROS) induced damage from the mitochondrial membrane. Primary coenzyme Q10 deficiency is a rare, autosomal recessive disorder, often presenting with neurological and/or muscle involvement. Until now, five patients from four families have been described with primary coenzyme Q10 deficiency due to mutations in COQ2 encoding para-hydroxybenzoate polyprenyl transferase. Interestingly, four of these patients showed a distinctive renal involvement (focal segmental glomerular sclerosis, crescentic glomerulonephritis, nephrotic syndrome), which is only very rarely seen in correlation with mitochondrial disorders. The fifth patient deceases due to infantile multi organ failure, also with renal involvement. Here we report a novel homozygous mutation in COQ2 (c.905C>T, p.Ala302Val) in a dizygotic twin from consanguineous Turkish parents. The children were born prematurely and died at the age of five and six months, respectively, after an undulating disease course involving apneas, seizures, feeding problems and generalized edema, alternating with relative stable periods without the need of artificial ventilation. There was no evidence for renal involvement. We would like to raise awareness for this potentially treatable disorder which could be under diagnosed in patients with fatal neonatal or infantile multi-organ disease.

  17. Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

    PubMed

    Raviglione, Federico; Conte, Giorgio; Ghezzi, Daniele; Parazzini, Cecilia; Righini, Andrea; Vergaro, Raffaella; Legati, Andrea; Spaccini, Luigina; Gasperini, Serena; Garavaglia, Barbara; Mastrangelo, Massimo

    2016-11-01

    The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. Mutations in FARS2 have been reported in only few patients, but a detailed description of seizures, electroencephalographic patterns, magnetic resonance imaging findings, and long-term follow-up is still needed. We provide a clinical report of a child with FARS2-related disease manifesting drug-resistant infantile spasms associated with focal seizures. By comparative genomic hybridization analysis we identified a heterozygous microdeletion in the short arm of chromosome 6, inherited from the mother, that encompasses the first coding exon of FARS2. By sequencing of the FARS2 gene we identified a variant c.1156C>G; p.(R386G), inherited from the father. By using standard spectrophotometric techniques in skin fibroblasts, we found a combined abnormality of complexes I and IV of the mitochondrial respiratory chain. The main clinical features of the patient included axial hypotonia, mild distal hypertonia, and psychomotor delay. The magnetic resonance imaging showed microcephaly, frontal cerebral atrophy, and signal changes of dentate nuclei. At the age of 3 years and 6 months, the patient was still under treatment with vigabatrin and he has been seizure free for the last 23 months. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients

    PubMed Central

    Aryan, H; Aryani, O; Banihashemi, K; Zaman, T; Houshmand, M

    2012-01-01

    Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients. Methods: Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons. Results: We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1–5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG. Conclusion: We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation. PMID:23113155

  19. Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

    PubMed

    Aryan, H; Aryani, O; Banihashemi, K; Zaman, T; Houshmand, M

    2012-01-01

    Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. Pathogenic mutations in HEXB gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of GM2 ganglioside in sandhoff patients. Six infantile index patients with typical biochemical and clinical picture of the disease were studied at the molecular level. After DNA extraction and amplification, probands and their parents, were evaluated by direct sequencing of amplicons. We identified 7 different mutations among which 4 were novel. The most prevalent finding (50%) among our population was a 16 kb deletion including the promoter and exons 1-5. The other findings included c.1552delG and c.410G>A, c.362 A>G, c.550delT, c.1597C>T, c.1752delTG. We conclude that Cys137Tyr and R533C mutations may be pathogenic because of changing amino acid and locating at the conserved region and also they have not been observed in hundred controls. Besides, four mutations including: Cys137Tyr, c.1552delG, c.1597C>T and c.550delT fulfilled almost criteria for pathogenic mutation.

  20. A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1.

    PubMed

    Matsushima, Yoshibumi; Kikuchi, Tateki; Kikuchi, Hisae; Ichihara, Nobutsune; Ishikawa, Akira; Ishijima, Yasushi; Tachibana, Masayoshi

    2005-02-01

    Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive hereditary neurodegenerative disease of humans. So far, no responsible gene has been cloned or mapped to any chromosome. For chromosome mapping and positional cloning of the responsible gene, establishment of an animal model would be useful. Here we describe a new mouse model for INAD, named inad mouse. In this mouse, the phenotype is inherited in an autosomal recessive manner, symptoms occur in the infantile period, and the mouse dies before sexual maturity. Axonal dystrophic change appearing as spheroid bodies in central and peripheral nervous system was observed. These features more closely resembled human INAD than did those of the gad mouse, the traditional mouse model for INAD. Linkage analysis linked the inad gene to mouse Chromosome 1, with the highest LOD score (=128.6) at the D1Mit45 marker, and haplotype study localized the inad gene to a 7.5-Mb region between D1Mit84 and D1Mit25. In this linkage area some 60 genes exist: Mutation of one of these 60 genes is likely responsible for the inad mouse phenotype. Our preliminary mutation analysis in 15 genes examining the nucleotide sequence of exons of these genes did not find any sequence difference between inad mouse and C57BL/6 mouse.

  1. Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies.

    PubMed

    Kyllerman, M; Månsson, J E; Lichtenstein, M; Percy, A K; Nordborg, C

    2001-07-01

    We report on two sisters with an infantile onset of dyskinetic movements, tonic spasms, seizures and apneic spells. The condition deteriorated to a hypotonic "burnt out" stage by the age of 3 years in the older sister and to a stable dyskinetic condition by the age of 2.5 years in the younger one. A skin biopsy from the older sister revealed myelinated nerve fibers crowded with neurofilaments. The extensive investigation for neurometabolic disorder, magnetic resonance imaging of the brain, and ophthalmological and neurophysiological examinations were not especially revealing. The older sister died at the age of 3 years. The autopsy revealed no apparent loss of nerve cells in the brain and no sign of storage disease. However, silver-stained coarse granules, immunopositive for neurofilament polypeptide, were found around nerve cell bodies in the cortex and in the basal ganglia. Electron microscopy revealed perineuronal membrane-bound profiles filled with filaments. Silver-stained axonal torpedoes were found in the cerebellum, but there were no spheroids. The substantia nigra, the locus ceruleus and the nucleus basalis of Meynert showed extensive perineuronal and perivascular swelling. Homovanillic acid was severely reduced, while 5-hydroxyindoleacetic acid and hydroxymethylphenyl glycol were normal in the cerebrospinal fluid of the severely affected, autopsied case. The two cases are considered to represent a new form of infantile neuroaxonal dystrophy, characterized by the degeneration of perineuronal terminals in the cerebral cortex and in the basal ganglia, as well as by axonal degeneration in the cerebellum and peripheral nerves.

  2. Evidence of preventive effect of probiotics and prebiotics for infantile eczema.

    PubMed

    Eigenmann, Philippe A

    2013-08-01

    Infantile eczema, and in particular atopic dermatitis are, in many children, the first manifestation of their predisposition to an atopic disease. Among existing prevention strategies, supplementation with probiotics and prebiotics belong to the most promising beneficial interventions. Highlighting the most recent literature, we review here the most recent studies on probiotics and prebiotics and hypothesize on the most efficient intervention strategies. Various probiotics and prebiotics, either alone or in combinations, have been administered, in general, during the late phase of pregnancy and up to 6 months of age. In general, a combination of probiotics and prebiotics given from pregnancy until early infancy has a higher potential for protecting the infant from developing early manifestations of eczema than short administration of one specific microorganism. The effect of probiotics and prebiotic supplementations on early manifestations of atopy such as infantile eczema are conflicting. Nevertheless, prevention strategies should aim for an enhanced efficacy by addressing not only interventions on the microbiota, but by combining them to other interventions, for example, to those aiming at actively inducing antigen-specific tolerance.

  3. [Clinical significance of histopathologic and ultrastructural pathologic examination in etiological diagnosis of infantile cholestatic diseases].

    PubMed

    Zhao, Rui-qiu; Guan, Xiao-qin; Luo, Zi-guo; Xu, Hong-mei

    2010-09-01

    To study the features of histopathologic and ultrastructural pathologic changes of liver biopsy in patients with infantile cholestatic disease, and to investigate its diagnostic significance combining with the clinical data. Thirty-six children diagnosed as infantile cholestatic disease and received liver biopsy in Chongqing Medical University Children's Hospital from Jun 2007 to Oct 2008 were enrolled and the pathologic and ultrastructural pathologic changes of liver were analyzed. Morphologic changes under light microscope in liver tissues included hepatocyte swelling, hepatocyte denaturation, hepatocyte necrosis, multinucleated giant cell formation, bile duct proliferation, fiber tissues proliferation and inflammatory cells infiltration in liver lobules and portal regions. The characteristics of cholestasis including intralobular cholestasis, acinus formation, feather-like cytoplasmic filaments and bile stasis in bile canaliculi were observed. The morphologic changes of biliary atresia were observed in 7 cases whose image investigations showed no obstruction of biliary tract. Nuclear changes, resolution of cytoplasm, inflammatory cell infiltration, collagen fiber proliferation and increased number of lysosomes were observed under electromicroscope. Two cases of glycogen storage disease, 1 case of Niemann-Pick disease and 1 case of lipid storage disease with unknown cause were confirmed by the combination of histological changes and clinical manifestations. Common pathologic changes of liver tissues existed under light microscope or electroscope. The diagnosis of hereditary metabolic disorders could be made increasingly by application of these two technologies in clinical practice. It is difficult to diagnose biliary atresia in early childhood by image investigations and the pathological changes of liver tissues are helpful.

  4. Orthosis Effects on the Gait of a Child with Infantile Tibia Vara

    PubMed Central

    Alsancak, Serap

    2015-01-01

    Infantile tibia vara (ITV) is an acquired form of tibial deformity associated with tibial varus and internal torsion. As there is currently insufficient data available on the effects of orthotics on gait parameters, this study aimed to document the influence of orthosis on walking. A male infant with bilateral tibia vara used orthoses for five months. Gait evaluations were performed pre- and posttreatment for both legs. The kinematic parameters were collected by using a motion analysis system. The orthotic design principle was used to correct the femur and tibia. Posttreatment gait parameters were improved compared to pretreatment parameters. After 5 months, there was remarkable change in the stance-phase degrees of frontal plane hip joint abduction and knee joint varus. We found that orthoses were an effective treatment for the infantile tibia vara gait characteristics in this patient. Full-time use of single, upright knee-ankle-foot orthosis with a drop lock knee joint and application of corrective forces at five points along the full length of the limb were effective. PMID:26078903

  5. Maternal vitamin D status: implications for the development of infantile nutritional rickets.

    PubMed

    Thandrayen, Kebashni; Pettifor, John M

    2010-06-01

    The mother is the major source of circulating 25-hydroxyvitamin D concentration in the young infant. Maternal vitamin D status is an important factor in determining the vitamin D status of the infant and their risk of developing vitamin D deficiency and infantile nutritional rickets. There is evidence that the current supplementation recommendations, particularly for pregnant and lactating women, are inadequate to ensure vitamin D sufficiency in these groups. A widespread and concerted effort is needed to ensure daily supplementation of breastfed and other infants at high risk with vitamin D 400 IU from birth and of pregnant women in high-risk communities with 2000 IU. Future studies are required to determine the optimal doses of vitamin D supplementation in pregnancy and during lactation, and for normalizing vitamin D stores in infancy to reduce the prevalence of infantile nutritional rickets. Operational research studies are needed to understand the best methods of implementing supplementation programs and the factors that are likely to impede their success. Copyright 2010 Elsevier Inc. All rights reserved.

  6. Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers

    PubMed Central

    Dearborn, Joshua T.; Harmon, Steven K.; Fowler, Stephen C.; O’Malley, Karen L.; Taylor, George T.; Sands, Mark S.; Wozniak, David F.

    2015-01-01

    Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1−/−) is a useful phenocopy of human INCL. Cln1−/− mice display retinal dysfunction, seizures, motor deficits, and die at ~8 months of age. However, little is known about the cognitive and behavioral functions of Cln1−/− mice during disease progression. In the present study, younger (~1–2 months of age) Cln1−/− mice showed minor deficits in motor/sensorimotor functions while older (~5–6 months of age) Cln1−/− mice exhibited more severe impairments, including decreased locomotor activity, inferior cued water maze performance, decreased running wheel ability, and altered auditory cue conditioning. Unexpectedly, certain cognitive functions such as some learning and memory capabilities seemed intact in older Cln1−/− mice. Younger and older Cln1−/− mice presented with walking initiation defects, gait abnormalities, and slowed movements, which are analogous to some symptoms reported in INCL and parkinsonism. However, there was no evidence of alterations in dopaminergic markers in Cln1−/− mice. Results from this study demonstrate quantifiable changes in behavioral functions during progression of murine INCL and suggest that Parkinson-like motor/sensorimotor deficits in Cln1−/− mice are not mediated by dopamine deficiency. PMID:26238334

  7. Effect of price increase of adrenocorticotropic hormone on treatment practices of infantile spasms.

    PubMed

    Wray, Carter D; Benke, Timothy A

    2010-09-01

    Intramuscular adrenocorticotropic hormone putatively constitutes the most efficacious treatment for infantile spasms. Adrenocorticotropic hormone in the United States is an "orphan drug," made by a single manufacturer. The price of adrenocorticotropic hormone increased almost 14-fold on August 27, 2007. We sought to evaluate the impact of this price increase on treatment practices at our institution, using a retrospective chart review of all children with infantile spasms treated during 2007-2009. We identified 97 patients whose spasms were treated using antiepileptic drugs, and we determined the length of stay for those hospitalized to initiate adrenocorticotropic hormone. Patients before the price increase were more likely to have been treated with adrenocorticotropic hormone as first medication, and were hospitalized 2.2 +/- 0.5 S.D. days for initiation. Patients after the price increase were more likely to have been treated initially with oral antiepileptic drugs rather than adrenocorticotropic hormone (P < 0.002). Those commencing adrenocorticotropic hormone after the price increase were hospitalized significantly longer (5.1 +/- 0.6 days S.D., P < 0.001). Treatment choices need to be evidence-based, but other factors often influence them.

  8. Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.

    PubMed

    Thomas, Mervyn G; Gottlob, Irene

    2012-12-01

    Infantile nystagmus is commonly associated with afferent abnormalities that can be detected using a range of investigative modalities. Optical coherence tomography allows high-resolution in vivo imaging of the retina. Recent studies have shown characteristic foveal abnormalities in patients with albinism, PAX6 mutations, and isolated foveal hypoplasia. Arrested development of the fovea leads to foveal hypoplasia, which causes reduction in visual acuity. Previous studies have shown correlations between visual acuity and the degree of foveal hypoplasia. Furthermore, in achromatopsia a characteristic lesion has been described that is associated with cone photoreceptor degeneration. Patients with achromatopsia also have foveal hypoplasia, however with atypical features. The signs of photoreceptor degeneration were progressive, which suggests that gene therapy is likely to be most beneficial if given within the first few years of life. With the advent of high speed and ultrahigh resolution optical coherence tomography it is now possible to document reliably the stages of foveal development and cone photoreceptor degeneration. This will aid clinicians in diagnosis and predicting prognosis in patients with infantile nystagmus.

  9. Successful Management of the Masochistic Habit in a Child with Santovuori-Haltia-Hagberg Disease (Infantile Neuronal Ceriod Lipofuscinoses)

    PubMed Central

    Mistry, Laresh N; Hugar, Shivayogi M; Patel, Punit

    2017-01-01

    Self-injurious behaviours are usually related to paediatric patients with mental retardation. The management of such patients is quiet challenging to the paediatric dentists because of the difficulty to communicate with such patients regarding their feelings verbally. Here, we present a case report of successful management of self-injurious behaviour in a child with Infantile Neuronal Ceriod Lipofuscinoses (INCL). PMID:28274078

  10. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

    USDA-ARS?s Scientific Manuscript database

    Idiopathic infantile hypercalcemia (IIH) is a disorder the genetic etiology and physiological basis of which are not well understood. The objective of the study was to describe the underlying physiology and genetic cause of hypercalcemia in an infant with severe IIH and to extend these genetic findi...

  11. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  12. Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial

    PubMed Central

    Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

    2015-01-01

    Background & objectives: Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. Methods: This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. Results: The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Interpretation & conclusions: Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1). PMID:26831423

  13. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.

    PubMed

    Tütüncüoglu, S; Ozkinay, F; Genel, F; Uran, N; Ozgür, T

    1996-04-01

    In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.

  14. Comparing the effects of Bentonite & Calendula on the improvement of infantile diaper dermatitis: A randomized controlled trial.

    PubMed

    Mahmoudi, Mansoreh; Adib-Hajbaghery, Mohsen; Mashaiekhi, Mahdi

    2015-12-01

    Infantile diaper dermatitis is a common, acute inflammatory reaction of the skin around diaper among infants. This study was undertaken to compare the effect of topical application of Bentonite and Calendula creams on the improvement of infantile diaper dermatitis. This double blind randomized controlled trial was undertaken on 100 patients of infantile diaper dermatitis. The 100 participants were randomly assigned into two groups of 50 each, and were prescribed the coded medicine. The mothers were trained to apply the cream and level of improvement was judged by observing the affected area on the first visit and then after three days of receiving treatment. The mean age of infants was 6.45±5.53 months in Calendula group and 7.35±6.28 months in Bentonite group. Overall, 88 per cent of lesions in the Bentonite group started improving in the first six hours while this rate was 54 per cent in Calendula group (P<0.001). The risk ratio for the improvement in the first six hours was 2.99 folds in the Bentonite group. Also, lesions in 86 per cent infants in the Bentonite group and 52 per cent in the Calendula group were completely improved in the first three days after treatment (P<0.001). Our results showed that in comparison with Calendula, Bentonite had faster healing effect and was more effective on the improvement of infantile diaper dermatitis (IRCT ID: IRCT 2012112811593N1).

  15. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  16. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  17. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  18. EFFECTS OF PRENATAL TESTOSTERONE PROPIONATE AND VINCLOZOLIN ON PERINATAL AND INFANTILE DEVELOPMENT OF MALE AND FEMALE RATS

    EPA Science Inventory

    Effects of Prenatal Testosterone Propionate and Vinclozolin on Perinatal and Infantile Development of Male and Female Rats
    Cynthia Wolf1,2, Jonathan Furr1, Gerald A. LeBlanc2, and L. Earl Gray, Jr.1
    1USEPA, NHEERL, RTD, EB, RTP, NC 27711, 2Dept. of Environmental and Molecu...

  19. A Comparative Study of Development and Symptoms among Disintegrative Psychosis and Infantile Autism with and without Speech Loss.

    ERIC Educational Resources Information Center

    Kurita, Hiroshi; And Others

    1992-01-01

    Eighteen cases of disintegrative psychosis (DP) were compared with 52 cases of infantile autism (IA) with speech loss and 145 IA cases without speech loss. DP cases showed clearer regression after more satisfactory development than the IA cases with speech loss, and by age seven were more severely retarded but similar in autistic symptomatology to…

  20. La Junta Nacional de Jardines Infantiles: Government-Funded Preschools in Chile, a Comparison with Head Start.

    ERIC Educational Resources Information Center

    Wortham, Sue C.

    1994-01-01

    Compares La Junta Nacional de Jardines Infantiles (JUNJI), Chile's federally funded preschool system, with the United States' Head Start program. Notes that, unlike Head Start, JUNJI is administered at the national level; requires preschool teachers to have four-year university degrees; follows a national curriculum; and, due to budget…

  1. A Transnational Survey of Mental Health Professionals in the United States and Europe on the Etiology of Infantile Autism.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper first reviews previous studies made of the causes of schizophrenia as seen by mental health professionals in Western countries and in the Third World. The study at hand focuses on infantile autism and how it is viewed by professionals in the United States and Europe. Questionnaires addressed issues, characteristics and etiology,…

  2. [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].

    PubMed

    Ding, Juan; Huang, Yu; Yang, Haipo; Zhang, Qingyou; Hou, Xinlin; Liu, Xueqin; Yang, Yanling; Xiong, Hui

    2015-06-01

    To summarize clinical features and diagnosis of Chinese infantile patients with glycogen storage disease type II (GSD II). Six infant patients with GSD II diagnosed from January 2012 to June 2014 in the Department of Pediatrics, Peking University First Hospital were enrolled into this study. Clinical information of the 6 patients, including clinical manifestation, blood biochemistry, chest X-ray, echocardiogram, electrocardiogram, acid alpha-glucosidase (GAA) activity and GAA gene mutation analysis by direct sequencing of polymerase chain reaction (PCR) product were reviewed. Of the 6 patients, five were female and one was male, five of whom were classic infantile type while the other one was atypical. The age of onset ranged from birth to 3-month-old. All patients had varying degrees of generalized muscle weakness, hypotonia and development retardation or retrogression. Other common findings were feeding difficulties in two patients, tongue weakness in two patients, respiratory distress in four patients, macroglossia in one patient, and hepatomegaly in two patients. Left ventricular hypertrophy and cardiomegaly were obvious in all the six patients. All six patients were found to have a enlarged heart in physical examination, and three patients who underwent a chest X-ray examination had an enlarged heart shadow. Four patients who had an echocardiography were found to have myocardial hypertrophy. The electrocardiogram in three patients showed short PR intervals and high voltage. The creatine kinase (CK) levels were three to seven times elevated. The mildest elevated CK was 441 IU/L, and the highest CK level was 1 238 U/L. Assay of GAA enzyme activity in whole blood showed significantly reduced activity (1.3 nmol/ (spot·d) to 2 nmol/(spot·d)) in the patients tested. Gene sequencing in 4 patients showed 8 pathogenic mutations, including 6 missense mutations, one nonsense mutation and one frameshift mutation. The missense mutations were c.998C > A (p.Thr333Lys), c

  3. Orbital infantile myofibroma: a case report and clinicopathologic review of 24 cases from the literature.

    PubMed

    Mynatt, Corey J; Feldman, Kenneth A; Thompson, Lester D R

    2011-09-01

    Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR

  4. Propranolol represses infantile hemangioma cell growth through the β2-adrenergic receptor in a HIF-1α-dependent manner.

    PubMed

    Li, Peng; Guo, Zhengtuan; Gao, Ya; Pan, Weikang

    2015-06-01

    Propranolol, as a non-selective blocker of the β-adrenergic receptor (AR), is utilised as the first-line treatment for infantile hemangiomas. However, the underlying mechanism remains poorly understood. The present study was designed to investigate the molecular basis of propranolol on the regression of infantile hemangiomas using a proliferating infantile hemangioma-derived endothelial cell line. In infantile hemangioma patients, we found that propranolol significantly decreased the expression levels of the hypoxia inducible factor (HIF)-1α in serum and urine, as well as in hemangioma tissues. In vitro analysis revealed that propranolol reduces the expression of HIF-1α in hemangioma cells in a dose- and time-dependent manner, mainly by acting on β2-AR. Interestingly, it was observed that overexpression of HIF-1α apparently abrogated the inhibitory effects of propranolol on vascular endothelial growth factor (VEGF) expression and cell growth. Our data further demonstrated that propranolol inhibited the signal transducer and activator of transcription 3 (STAT3), a critical oncogenic signaling molecule, and the anti-apoptotic protein Bcl-2. Additionally, overexpression of HIF-1α significantly reversed the inhibitory effects of propranolol on STAT3 signaling. In a mouse xenograft hemangioma model, overexpression of HIF-1α significantly attenuated the therapeutic effects of propranolol and inhibited propranolol-induced hemangioma cell apoptosis. Moreover, the protein levels of VEGF, phosphorylated STAT3, total STAT3 and Bcl-2 were significantly upregulated by HIF-1α overexpression in propranolol-treated nude mice bearing hemangiomas. Collectively, our data provide evidence that propranolol may regress infantile hemangiomas by suppressing VEGF and STAT3 signaling pathways in an HIF-1α-dependent manner.

  5. Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: Insights from a novel animal model of infantile spasms

    PubMed Central

    Iacobas, D.A.; Iacobas, S.; Chachua, T.; Goletiani, C.; Sidyelyeva, G.; Velíšková, J.; Velíšek, L.

    2013-01-01

    Summary Prenatal exposure to corticosteroids has long-term postnatal somatic and neurodevelopmental consequences. Animal studies indicate that corticosteroid exposure-associated alterations in the nervous system include hypothalamic function. Infants with infantile spasms, a devastating epileptic syndrome of infancy with characteristic spastic seizures, chaotic irregular waves on interictal electroencephalogram (EEG; hypsarhythmia) and mental deterioration, have decreased concentrations of adrenocorticotropic hormone (ACTH) and cortisol in cerebrospinal fluid strongly suggesting hypothalamic dysfunction. We have exploited this feature to develop a model of human infantile spasms by using repeated prenatal exposure to betamethasone and postnatal trigger of developmentally relevant spasms with N-methyl-D-aspartic acid (NMDA). The spasms triggered in prenatally primed rats are more severe compared to prenatally saline-injected ones and respond to ACTH, a treatment of choice for infantile spasms in humans. Using autoradiography and immunohistochemistry, we have identified a link between the spasms in our model and hypothalamus, especially the arcuate nucleus. Transcriptomic analysis of the arcuate nucleus after prenatal priming with betamethasone but before trigger of spasms indicates that prenatal betamethasone exposure down-regulates genes encoding several important proteins participating in glutamatergic and GABAergic transmission. Interestingly, there were significant sex-specific alterations after prenatal betamethasone in synapse-related gene expression but no such sex differences were found in prenatally saline-injected controls. A pair-wise relevance analysis revealed that, although the synapse gene expression in controls was independent of sex, these genes form topologically distinct gene fabrics in males and females and these fabrics are altered by betamethasone in a sex-specific manner. These findings may explain the sex differences in both normal behaviour

  6. Particularité de la cystinose infantile chez l'enfant tunisien

    PubMed Central

    Jellouli, Manel; Turkia, Hadhami Ben; Abidi, Kamel; Hammi, Yosra; Gargah, Tahar

    2015-01-01

    La cystinose est une maladie rare qui résulte d'un défaut d'expression de la cystinosine transporteur de la cystine du lysosome. La forme infantile est la plus fréquente et la plus sévère. Elle conduit en dehors du traitement à l'insuffisance rénale chronique terminale au cours de la première décade de la vie. Nous rapportons l'expérience tunisienne de la cystinose infantile. Une étude rétrospective sur une période de 25 ans (1990-2014) était menée. Nous avons colligé 8 dossiers de cystinose infantile dans les services de pédiatrie des hôpitaux Charles Nicolle de Tunis et la Rabta de Tunis. Il s'agissait de 5garçons et de 3 filles. L’âge moyen au début des symptômes était de 6,37 mois (2-14 mois). L’âge moyen au moment du diagnostic était de 4 ans (7 mois-6 ans). Les dépôts cornéens de cystine étaient observés chez 7 patients. Sept patients présentaient une hypothyroïdie. La cystéamine était prescrite chez 6 patients. L’âge moyen au moment de la prescription de cystéamine était de 5,12 ans (8 mois- 13 ans). L’âge moyen lors de passage en insuffisance rénale chronique était de 3,4 ans. L’âge moyen lors du passage en insuffisance rénale chronique terminale était de 6,37 ans Actuellement, un patient garde une fonction rénale normale, trois patients sont en insuffisance rénale, deux patients sont décédés et un patient était transplanté. Il faut instaurer dans notre pays les moyens de diagnostic pour traiter tôt la maladie. PMID:26985266

  7. Expression of β-Adrenergic Receptor Subtypes in Proliferative, Involuted, and Propranolol-Responsive Infantile Hemangiomas.

    PubMed

    Phillips, James D; Zhang, Haihong; Wei, Ting; Richter, Gresham T

    2017-03-01

    Propranolol hydrochloride has become the primary medical treatment for problematic infantile hemangioma; however, the expression of propranolol's target receptors during growth, involution, and treatment of hemangioma remains unclear. To measure and compare the expression of β1-, β2-, and β3-adrenergic receptors (ADBR1, ADBR2, and ADBR3, respectively) in proliferative (n = 10), involuted (n = 11), and propranolol-responsive (n = 12) hemangioma tissue. Infantile hemangioma specimens were harvested for molecular investigation. Messenger RNA (mRNA) expression of the ADBR1, ADBR2, and ADBR3 genes was detected by real-time polymerase chain reaction. Protein level expression was measured by Western blot and standardized with densitometry. A total of 33 specimens were collected from patients in a tertiary pediatric hospital who underwent excision of problematic hemangiomas. This study was conducted from January 18, 2011, to September 24, 2013, and data analysis was performed from February 25, 2015, to June 25, 2016. Of the 33 patients included, 21 were female (64%). The mean (SD) patient age at the time of excision was 7 (2.5) months for the proliferative group lesions, 23.5 (10) months for the involuted group, and 16 (10) months for the propranolol group. The mean level of ADBR1 mRNA expression was significantly higher in proliferative hemangioma than in propranolol-responsive hemangioma (1.05 [0.56] vs 0.52 [0.36]; P = .01; 95% CI, 0.12-0.94). There was no difference in ADBR2 expression among the groups. Protein expression of ADBR3 was significantly higher in involuted (0.64 [0.12] vs 0.26 [0.04]; P < .01; 95% CI, 0.26-0.49) and propranolol-responsive hemangioma (0.66 [0.31] vs 0.26 [0.04]; P = .01; 95% CI, 0.16-0.68) compared with proliferative hemangioma. These data demonstrate the variable expression of ADBR subtypes among infantile hemangiomas during growth, involution, and response to treatment. These findings may have clinical

  8. Infantile fibrosarcoma successfully treated with chemotherapy, with occurrence of calcifying aponeurotic fibroma and pleomorphic/spindled celled lipoma at the site 12 years later.

    PubMed

    DeComas, Amalia M; Heinrich, Stephen D; Craver, Randall

    2009-06-01

    The treatment of infantile fibrosarcoma has traditionally been wide resection. Chemotherapy has been investigated as an adjuvant and primary treatment in cases in which surgery would cause unacceptable morbidity. Recurrences normally occur within a year of completion of the chemotherapy and display the same histology. We present a child with an infantile fibrosarcoma of the elbow, successfully treated with chemotherapy alone, who developed a calcifying aponeurotic fibroma and a spindle cell/pleomorphic lipoma at the tumor site 12 years later.

  9. Infantile hemangioma-like vascular lesion in a 26-year-old woman after abortion.

    PubMed

    Lu, Yang; Wang, Shu Jun; Li, Xin; Hu, Li; Zhang, Wen Jie; Li, Wei

    2014-01-01

    A 26-year-old woman (G2P1A1) presented with a 5-week history of multiple red marks on her body after a therapeutic abortion. A physical examination found 15 palpable red marks on her head, neck, chest, arms and legs. Proliferating endothelial cells, which expressed CD31, CD34, von Willebrand factor, but not Glut-1 and merosin, were observed in the lesional area by histopathological analyses. Histocompatibility antigen typing of 2 lesions was identical to a sample from peripheral blood. Accelerated regression was observed in 2 lesions treated by intralesional injection of betamethasone, while spontaneous regression was observed within 9 months in the remaining lesions without any treatment. Rapid growth, spontaneous regression and histological analyses in this case support the diagnosis of 'infantile hemangioma-like vascular lesion'.

  10. Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

    PubMed

    Conroy, Judith; Allen, Nicholas M; Gorman, Kathleen; O'Halloran, Eoghan; Shahwan, Amre; Lynch, Bryan; Lynch, Sally A; Ennis, Sean; King, Mary D

    2016-08-01

    SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second case of SLC1A4-associated infantile spasms. As this is the first European identified, population ancestry analysis of the Exome Aggregation Consortium database was performed to determine the wider ethnic background of SLC1A4 deficiency carriers. p.Glu256Lys was found in Hispanic and South Asian populations. Other potential disease-causing variants were also identified. Investigation for SLC1A4 deficiency should be performed regardless of ethnicity and extend to include unexplained early-onset epileptic encephalopathy.

  11. Encephalopathy in an infant with infantile spasms: possible role of valproate toxicity

    PubMed Central

    Sivathanu, Shobhana; Sampath, Sowmya; Veerasamy, Madhubala; Sunderkumar, Satheeshkumar

    2014-01-01

    An infant presented with global developmental delay and infantile spasms. EEG was suggestive of hypsarrhythmia. She was started on sodium valproate, clonazepam and adrenocorticotropic hormone injection. After an initial improvement the child developed vomiting, altered sensorium and increase in frequency of seizures suggestive of encephalopathy. Valproate-induced hyperammonaemia or hepatic encephalopathy was considered and the drug was withheld following which there was a dramatic improvement. Paradoxically, the liver function tests and serum ammonia were normal. However, a complete reversal of encephalopathy, on withdrawal of the drug, strongly suggested an adverse drug reaction (ADR) due to valproic acid. Marginal elevation of serum valproic acid prompted us to use the Naranjo ADR probability score to confirm the diagnosis. This case highlights the fact that valproate toxicity can manifest with normal liver function and serum ammonia levels. This is the youngest reported case with this rare form of valproate-induced encephalopathy. PMID:24810446

  12. [Extremly high frequency of infantil pulmonary thrombo-embolism (author's transl)].

    PubMed

    Brass, K

    1977-11-01

    Among 5 875 children with a lifetime between 24 hours to 14 years, autopsiated during period 1951-1970, were found 115 cases of naked eye pulmonary thrombo-embolism. 96 cases occurred in children with a lifetime between 24 hours and 4 years. This extremly high frequency is caused by an unusually high number of thrombosis in renal veins and craneal sinuses, following severe diarrhetic diseases with deshydratation and haemoconcentration. Severity and frequency of this enterocolitis of different aetiology, affecting especially children of poor people, are favoured by the climatic, sanitarious and socio-economical conditions of Valencia. Surprisingly, literature do not mention comparables observations about infantil pulmonary thrombo-embolism, observed in territories of similar structure.

  13. Glioblastoma multiforme in children: experience at Hospital Infantil de Mexico Federico Gomez.

    PubMed

    Sánchez-Herrera, Federico; Castro-Sierra, Eduardo; Gordillo-Domínguez, Luis Felipe; Vaca-Ruiz, Miguel Angel; Santana-Montero, Blanca; Perezpeña-Diazconti, Mario; González-Carranza, Vicente; Torres-García, Samuel; Chico-Ponce de León, Fernando

    2009-05-01

    To evaluate clinical evolution of pediatric patients diagnosed with glioblastoma multiforme (GBM) at Hospital Infantil de México Federico Gómez. Cases of patients treated from January to May, 2007, were included in this study. Variables analyzed were: age, diagnosis, size of tumor, histopathological description, degree of resection, time of stay in hospital, complications and outcome using Pearson's chi-squared test and logistic regression. Sixteen patients were identified. Mean age of presentation was 8.8. An increased frequency of complications was observed in younger patients and longer survival rates in patients with greater resections; main mode of presentation was directly related to intracranial hypertension; size of tumor was not related to evolution or outcome. Modern histological classifications especially designed for children are deemed necessary to accurately diagnose GBM.

  14. [Infantile myofibromatosis. Study of a case using whole body ultrasound and MRI].

    PubMed

    Machan, K; Bravo Bravo, C; Martínez-León, M I; Affumicato, L

    2014-01-01

    Infantile myofibromatosis, despite being considered a rare condition, is the most common fibrous tumour in infancy. It is characterised by the presence of benign fibroblastic-myofibroblastic lesions. It usually occurs in children under two years-old, but it can appear at any age. The solitary form (myofibromas) may affect the skin, subcutaneous cellular tissue, muscle or bone. In the multi-centred form (myofibromatosis), there may also be visceral lesions. The lesions usually regress spontaneously in one or two years, with the prognosis being excellent in these cases. However, when there is visceral involvement, the prognosis is poor and treatment with chemotherapy is indicated. Lung involvement is more associated with a poor prognosis. Although the definitive diagnosis is by histopathology, diagnostic imaging tests are essential for characterising the lesions, establishing the extent of the disease, assessing visceral involvement, and following up the progression of the lesions. Copyright © 2010 SERAM. Published by Elsevier Espana. All rights reserved.

  15. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids.

    PubMed

    Ben-Shalom, Efrat; Kobayashi, Keiko; Shaag, Avraham; Yasuda, Tomotsugu; Gao, Hong-Zhi; Saheki, Takeyori; Bachmann, Claude; Elpeleg, Orly

    2002-11-01

    In an infant who suffered from prolonged icterus and hepatocellular dysfunction we detected an increase of citrulline and dibasic amino acids in plasma and urine. The amino acid levels along with all the abnormal liver tests normalized upon replacing breast-milk by formula feeding; there was no relapse after human milk was tentatively reintroduced. A novel mutation, a approximately 9.5-kb genomic duplication, was identified in the citrin gene (SLC25A13) resulting in the insertion of exon 15. No mutation was detected in the CAT2A specific exon of the SLC7A2 gene which encodes for the liver transporter of cationic amino acids. This is the first report of infantile citrin deficiency in non-Asian patients.

  16. Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.

    PubMed

    Aizaki, Koichi; Sugai, Kenji; Saito, Yoshiaki; Nakagawa, Eiji; Sasaki, Masayuki; Aoki, Yoko; Matsubara, Yoichi

    2011-02-01

    A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.

  17. Infantile Hemangioma Originates From A Dysregulated But Not Fully Transformed Multipotent Stem Cell

    PubMed Central

    Harbi, Shaghayegh; Wang, Rong; Gregory, Michael; Hanson, Nicole; Kobylarz, Keith; Ryan, Kamilah; Deng, Yan; Lopez, Peter; Chiriboga, Luis; Mignatti, Paolo

    2016-01-01

    Infantile hemangioma (IH) is the most common tumor of infancy. Its cellular origin and biological signals for uncontrolled growth are poorly understood, and specific pharmacological treatment is unavailable. To understand the process of hemangioma-genesis we characterized the progenitor hemangioma-derived stem cell (HemSC) and its lineage and non-lineage derivatives. For this purpose we performed a high-throughput (HT) phenotypic and gene expression analysis of HemSCs, and analyzed HemSC-derived tumorspheres. We found that IH is characterized by high expression of genes involved in vasculogenesis, angiogenesis, tumorigenesis and associated signaling pathways. These results show that IH derives from a dysregulated stem cell that remains in an immature, arrested stage of development. The potential biomarkers we identified can afford the development of diagnostic tools and precision-medicine therapies to “rewire” or redirect cellular transitions at an early stage, such as signaling pathways or immune response modifiers. PMID:27786256

  18. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    SciTech Connect

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M.

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  19. Single-plane compensatory phase shift of head and eye oscillations in infantile nystagmus syndrome.

    PubMed

    Anagnostou, Evangelos; Spengos, Konstantinos; Anastasopoulos, Dimitri

    2011-09-15

    A 43-year-old man with infantile nystagmus syndrome complained of "head tremor" that would occur during attempted reading. Three-dimensional, combined eye and head recordings were performed with the magnetic search coil technique in two conditions: 1) looking straight-ahead under photopic conditions without a particular attentional focus and 2) reading a simple text held one meter away. A mainly vertical-horizontal spontaneous nystagmus was evident in both conditions, whereas head nodding emerged in the second condition. The head oscillated only in the vertical plane and concomitant analysis of eye and head displacement revealed a counterphase, compensatory pattern of the first harmonic of the INS waveform. This was verified by the significant negative peak of the crosscorrelogram at zero lag. Eye-in-space (gaze) displacement during nystagmic oscillations was thereby reduced suggesting a central adaptive behavior that may have evolved to partly compensate for the abnormal eye movements during reading.

  20. [Therapeutic intervention in infantile autism and generalized developmental disorders: self-injury and self-stimulation].

    PubMed

    Rodríguez-Abellán, J

    1999-02-01

    In this article we present a review of the aetiology and treatment of self-injury and self-stimulation in infantile autism and in generalized development disorders. We summarize 20 years of study and investigation in the treatment of these serious behaviour disorders, in a pioneer institution in Spain: the centre for rehabilitation 'El Cau' in Castellon. We describe the most frequent behaviour disorders, with particular reference to self-injury and self-stimulatory behaviour. Models explaining the aetiology and treatment are described in a brief general review of the subject, and we consider explicative models which integrate different treatments (in family and institutional contexts) by means of family therapy, psychoeducational models and social support networks.

  1. Infantile ictal apneas in a child with williams-beuren syndrome.

    PubMed

    Myers, Kenneth A; McLeod, D Ross; Bello-Espinosa, Luis

    2013-02-01

    Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Psychodynamic and behavior modification approaches to the treatment of infantile autism empirical similarities.

    PubMed

    Helm, D

    1976-03-01

    In the treatment of infantile autism, behaviorists emphasize directed behavioral change while psychodynamic therapists tend to focus attention on the worker-child relationship. A review of the literature suggests that both of these aspects of intervention are important, and that both play a role in virtually all therapeutic efforts. The similarities in methods of intervention found in the work of investigators of very different theoretical persuasion raise the possibility that most treatment methods owe more to empirical clinical experience than to their presumed derivation from a theoretical model. This thesis is further examined with respect to a 50-year-old case history by Lightmer Witmer, and the work of the present writer with an 11-year-old autistic boy.

  3. An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

    PubMed

    Plomp, A S; Reardon, W; Benton, S; Taylor, D; Larcher, V F; Sundrum, R; Winter, R M

    2000-07-01

    A female patient is presented with infantile spasms, punched-out retinal lesions, facial dysmorphism, short upper arms, short thumbs, left lower limb hypoplasia with foot deformity, a hemivertebra, atrial septal defect, growth retardation and severe developmental delay. There is some similarity to patients with Aicardi syndrome (AS), but the retinal lesions in our patient are different and she does not have agenesis of the corpus callosum, one of the diagnostic features of AS. She might represent an atypical form of this syndrome with additional features, usually not present in AS. As there is no diagnostic test for AS yet, this diagnosis cannot be confirmed nor rejected with certainty. However, it might be more likely that our patient has another, possibly unique, condition.

  4. Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate - serotonin interactions for pharmacotherapy.

    PubMed

    Carlsson, M L

    1998-01-01

    Based on 1) neuroanatomical and neuroimaging studies indicating aberrations in brain regions that are rich in glutamate neurons and 2) similarities between symptoms produced by N-methyl-D-aspartate (NMDA) antagonists in healthy subjects and those seen in autism, it is proposed in the present paper that infantile autism is a hypoglutamatergic disorder. Possible future pharmacological interventions in autism are discussed in the light of the intimate interplay between central glutamate and serotonin, notably the serotonin (5-HT) 2A receptor. The possible benefit of treatment with glutamate agonists [e.g. agents acting on the modulatory glycine site of the NMDA receptor, or so-called ampakines acting on the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor] is discussed, as well as the potential usefulness of a selective 5-HT2A receptor antagonist.

  5. Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

    PubMed Central

    Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

    2010-01-01

    Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691

  6. First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

    PubMed Central

    Yang, Yong-jia; Hu, Yuan; Zhao, Rui; He, Xinyu; Zhao, Liu; Tu, Ming; Zhou, Lijun; Guo, Jihong; Wu, Linqian; Zhao, Tantai; Zhu, Yi-min

    2015-01-01

    Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population. PMID:25866837

  7. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

    PubMed

    Lee, Hsien-Yang; Huang, Yong; Bruneau, Nadine; Roll, Patrice; Roberson, Elisha D O; Hermann, Mark; Quinn, Emily; Maas, James; Edwards, Robert; Ashizawa, Tetsuo; Baykan, Betul; Bhatia, Kailash; Bressman, Susan; Bruno, Michiko K; Brunt, Ewout R; Caraballo, Roberto; Echenne, Bernard; Fejerman, Natalio; Frucht, Steve; Gurnett, Christina A; Hirsch, Edouard; Houlden, Henry; Jankovic, Joseph; Lee, Wei-Ling; Lynch, David R; Mohammed, Shehla; Müller, Ulrich; Nespeca, Mark P; Renner, David; Rochette, Jacques; Rudolf, Gabrielle; Saiki, Shinji; Soong, Bing-Wen; Swoboda, Kathryn J; Tucker, Sam; Wood, Nicholas; Hanna, Michael; Bowcock, Anne M; Szepetowski, Pierre; Fu, Ying-Hui; Ptáček, Louis J

    2012-01-26

    Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.

  8. Infantile bisexuality and the 'complete oedipal complex': Freudian views on heterosexuality and homosexuality.

    PubMed

    Heenen-Wolff, Susann

    2011-10-01

    In the psychoanalytical discussion of what is 'mature' sexuality we speak of the 'genital' stage and the 'resolution' of the oedipal complex in the form of identification with the parent of the same sex and a heterosexually-directed object choice. A close reading of Freud's texts about sexuality shows that such a normative view cannot be corroborated by his viewpoint. He suggests that infantile sexuality is bisexually orientated, the final object choice due to repression of either homosexual or heterosexual desires. As Freud puts it, genital heterosexuality occurs out of necessity for procreation. In order to enrich the present psychoanalytical discussion about homosexuality and bisexuality the author returns to Freud's theories in this context. Copyright © 2011 Institute of Psychoanalysis.

  9. Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount's disease.

    PubMed

    Abdelgawad, Amr A

    2013-04-18

    Infantile Blount's disease is a condition that causes genu varum and internal tibial torsion. Treatment options include observation, orthotics, corrective osteotomy, elevation of the medial tibial plateau, resection of a physeal bar, lateral hemi-epiphysiodesis, and guided growth of the proximal tibial physis. Each of these treatment options has its disadvantages. Treating the coronal deformity alone (genu varum) will result in persistence of the internal tibial torsion (the axial deformity). In this report, we describe the combination of lateral growth modulation and distal tibial external rotation osteotomy to correct all the elements of the disease. This has not been described before for treatment of Blount's disease. Both coronal and axial deformities were corrected in this patient. We propose this combination (rather than the lateral growth modulation alone) as the method of treatment for early stages of Blount's disease as it corrects both elements of the disease and in the same time avoids the complications of proximal tibial osteotomy.

  10. Orienting responses to various visual stimuli in children with visual processing impairments or infantile nystagmus syndrome.

    PubMed

    Pel, J J M; Kooiker, M J G; van der Does, J M E; Boot, F H; de Faber, J T; van der Steen-Kant, S P; van der Steen, J

    2014-12-01

    Quantification of orienting responses can be used to differentiate between children with cerebral visual impairment and infantile nystagmus syndrome. To further improve the sensitivity of this method, we compared orienting responses to a Cartoon stimulus, which contains all sorts of visual information, to stimuli that contain only Contrast, Form coherence, Motion coherence, Color and Motion detection. The stimuli were shown on an eye tracker monitor using a preferential looking paradigm. We found that both groups of children showed general slowing in orienting responses compared to controls. The children with cerebral visual impairment had significantly prolonged responses to Cartoon compared to the children with nystagmus, whereas the children with nystagmus had prolonged responses to Motion detection and larger fixation areas. Previously reported differences in orienting responses to Cartoon were replicated. Application of specific visual information did not alter the sensitivity of the method to distinguish between children with visual processing deficits. © The Author(s) 2013.

  11. A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency.

    PubMed

    Khan, Zahida; Venkat, Veena L; Soltys, Kyle A; Stolz, Donna B; Ranganathan, Sarangarajan

    2017-01-01

    Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place.

  12. The elusive engram: what can infantile amnesia tell us about memory?

    PubMed

    Callaghan, Bridget L; Li, Stella; Richardson, Rick

    2014-01-01

    Revealing the engram is one of the greatest challenges in neuroscience. Many researchers focus on understanding the cellular and molecular mechanisms underlying the formation and maintenance of the engram, but an underutilized approach has been to investigate analogous processes associated with forgetting. Infant rodents present an ideal model for this purpose because they display a rapid form of non-pathological forgetting known as infantile amnesia (IA). Despite the widespread importance of this interesting phenomenon, the study of the neural bases of IA has remained largely neglected. Here, we consider what IA can tell us about memory. We argue that to understand the mechanisms underlying the engram we must also gain an appreciation of the mechanisms that drive forgetting.

  13. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?

    PubMed

    Prats Viñas, Jose Maria; Martinez Gonzalez, María Jesús; Garcia Ribes, Ainhoa; Martinez Gonzalez, Sonia; Martinez Fernandez, Ricardo

    2005-06-01

    Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

  14. Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.

    PubMed

    Feigenbaum, Dana F; Sybert, Virginia P; Vanderhooft, Sheryll L; Siegel, Dawn; Drolet, Beth A; Frieden, Ilona J; Mathes, Erin F D

    2015-01-01

    Areas of blanched skin in children may be seen as an independent finding or in association with vascular birthmarks. We performed a retrospective chart review to identify and describe infants with areas of ventral midline blanching in the presence of segmental infantile hemangiomas. We identified nine full-term infants with partial or full segmental hemangiomas and areas of midline ventral blanching. Additional ventral wall defects were seen in five patients. Six had cardiac anomalies and six had intracranial anomalies. Five were diagnosed with definite PHACE (posterior fossa, hemangioma, arterial, cardiac, and eye abnormalities) syndrome and three had possible PHACE syndrome. Eight were complicated by ulceration. Treatment varied according to the case. Ventral blanching, even in the absence of overt midline defects, can be seen in infants with segmental hemangiomas at risk for PHACE syndrome. We hypothesize that midline blanching may represent a minor manifestation of a developmental ventral defect. © 2014 Wiley Periodicals, Inc.

  15. Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.

    PubMed

    Santucci, M; Ambrosetto, G; Scaduto, M C; Morbin, M; Tzolas, E V; Rossi, P G

    2001-08-01

    A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.

  16. Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood?

    PubMed

    Mahadevan, A; Santosh, V; Gayatri, N; Ratnavalli, E; NandaGopal, R; Vasanth, A; Roy, A K; Shankar, S K

    2000-01-01

    Giant axonal neuropathy (GAN) and infantile neuroaxonal dystrophy (INAD) are two progressive neurodegenerative disorders of childhood that have considerable clinical as well as histological overlap but are believed to be ultrastructurally distinct. The clinicopathological and ultrastructural features of three cases of INAD, two of whom are siblings and one case of GAN are described. The sural nerve biopsies in all four cases were essentially similar on light microscopy revealing giant axons. On electron microscopy, the findings in the case of GAN were typical with dense accumulation of neurofilaments within the giant axons. In the three cases of INAD, too, in addition to accumulation of mitochondria and organelles with vesiculotubular profiles, a similar increase in neurofilaments was evident. We, therefore, believe that these two disorders may represent a spectrum in evolution of intermediate filament pathology with various organelles participating in the temporal evolution of the disease process.

  17. Acute hemiplegia as a rare presentation of infantile Guillain-Barré syndrome.

    PubMed

    Muthaffar, Osama Y; Mahmoud, Adel A; Al-Saman, Abdulaziz S

    2014-08-01

    Guillain-Barré syndrome (GBS) usually presents in a symmetrical ascending fashion of weakness. We present a 6-month-old male infant who presented to our emergency room with acute left-sided limb weakness and head lag 3 days after a febrile upper respiratory tract infection. A diagnosis of GBS was established by confirming high cerebrospinal fluid protein, motor nerve reduced amplitude, and prolonged conductions, and MRI T2 high signal intensity affecting the ventral roots of the spinal cord. He showed remarkable clinical and neurophysiological improvement after intravenous immunoglobulin and intensive physiotherapy. The occurrence of infantile acute hemiplegia as a presentation of GBS is rare. This report highlights the importance of considering GBS in the differential diagnosis so that early effective treatment may be started.

  18. Characteristics of infantile autism in five children with Leber's congenital amaurosis.

    PubMed

    Rogers, S J; Newhart-Larson, S

    1989-10-01

    The behavioral characteristics of five preschool boys with Leber's congenital amaurosis were compared with those of five preschool boys who had been blind from birth from other causes. The boys with Leber's amaurosis met criteria for infantile autism and had remarkably similar developmental histories. They had significantly higher ratings on the Childhood Autism Rating Scale for both frequency and severity of autistic symptoms. The two groups also had different profiles on the Autism Behavior Checklist, the Leber group having a distinctive profile and higher scores. It is suggested that cases of Leber's amaurosis may account for some descriptions in the literature of the co-occurrence of autistic behavior and blindness in children. Deficits in cerebellar structure have been reported in some Leber patients and in some autistic children, which may provide the neurological basis for the behavioral similarities seen in children with Leber's amaurosis and sighted autistic children.

  19. A practical guide to treatment of infantile hemangiomas of the head and neck

    PubMed Central

    Zheng, Jia Wei; Zhang, Ling; Zhou, Qin; Mai, Hua Ming; Wang, Yan An; Fan, Xin Dong; Qin, Zhong Ping; Wang, Xv Kai; Zhao, Yi Fang

    2013-01-01

    Infantile hemangiomas are the most common benign vascular tumors in infancy and childhood. As hemangioma could regress spontaneously, it generally does not require treatment unless proliferation interferes with normal function or gives rise to risk of serious disfigurement and complications unlikely to resolve without treatment. Various methods for treating infant hemangiomas have been documented, including wait and see policy, laser therapy, drug therapy, sclerotherapy, radiotherapy, surgery and so on, but none of these therapies can be used for all hemangiomas. To obtain the best treatment outcomes, the treatment protocol should be individualized and comprehensive as well as sequential. Based on published literature and clinical experiences, we established a treatment guideline in order to provide criteria for the management of head and neck hemangiomas. This protocol will be renewed and updated to include and reflect any cutting-edge medical knowledge, and provide the newest treatment modalities which will benefit our patients. PMID:24260591

  20. [Infantile pyknocytosis: a rare form of neonatal hemolytic anemia. 5 case-studies].

    PubMed

    Limme, B; Dresse, M-F; Ketelslegers, O; Rigo, V; Hoyoux, C

    2008-12-01

    Infantile pyknocytosis (IP) is a rare hematological entity of newborns. It is a form of hemolytic anemia with unusual red cell morphology: the red blood cells are distorted, irregular, and small with many projections. Spontaneous resolution usually occurs by 4-6months of age. We describe the clinical features and biological parameters of 5 cases of IP. The first symptoms were always early jaundice, which required phototherapy. Anemia was severe in all babies and red blood cell transfusion was needed. IP is a rare cause of neonatal anemia whose diagnosis is based on a careful peripheral blood smear examination. In our study, anemia was severe and required red blood cell transfusion. Ethnic specificity and familial occurrence are reported in our experience.

  1. RISA cisternography in the option of ventriculocisternal shunt for infantile non-tumoural aqueductal stenosis.

    PubMed

    Palma, L; Mariottini, A; D'Addetta, R; Mastronardi, L

    1988-01-01

    Twenty cases of infantile triventricular hydrocephalus from non-tumoural aqueductal stenosis were treated by ventriculocisternal shunt following RISA cisternography. In 11 cases RISA cisternography showed a normal pattern of CSF circulation. One patient was lost to follow-up. Two had their intrathecal shunt converted into an extrathecal one because of postoperative meningeal infection. Of the remaining 8 patients, 7 had good and 1 fair long term results. In 9 cases RISA cisternography presented an abnormal pattern without indicating a definite impairment of CSF absorption. Slow flow of the tracer leading to its complete disappearance from 36 to 48 hours and 48 to 72 hours was observed respectively in 7 and 2 patients. In both the latter as well in two of the other seven an extrathecal shunt had to be employed (44%). A retrospective analysis to assess the predictive value of CSF absorption test by RISA in the selection of this kind of intrathecal shunt is made.

  2. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  3. The effectiveness of massage therapy in the treatment of infantile colic symptoms: A randomized controlled trial

    PubMed Central

    Sheidaei, Ali; Abadi, Alireza; Zayeri, Farid; Nahidi, Fatemeh; Gazerani, Nafiseh; Mansouri, Anita

    2016-01-01

    Background: Infantile colic, cry-fuss and sleep problems are transient in the initial months of life, but they contribute to maternal depression, parenting stress and family mental health problems. In this randomized clinical trial, we aimed to explore the efficacy of massage therapy compared to rocking in reducing infantile colic symptoms including duration and number of cries, sleep duration and severity of infant colic. Methods: This was a single blind RCT study with a one-week follow-up. One hundred colicky infants aged younger than 12 weeks old were randomly assigned into massage and rocking groups. Infants in the massage group received a massage for 15-20 minutes once during a day and once at night before sleeping for a week. In the control group, mothers rocked their infants gently for 5-25 minutes when the symptoms of colic appeared. Parents recorded the details of the colic symptoms in a diary every day. A GEE approach was applied to explore the effect of the intervention. Results: Efficiency of massage therapy was significantly higher than rocking. At the end of the study, the mean number of daily cries was 4.26±1.40 in the massage and 6.9±2.14 the rocking groups (p<0.01). The mean of the severity score was 1.39±0.19 less in the massage group (p<0.01). Moreover, the mean differences of massage and rocking groups were -0.82±0.20 hour (p<0.01) and 0.72±0.35 (p= 0.04) in the duration of cries and duration of sleep, respectively. Conclusion: Massaging significantly improved colic symptoms during a one-week intervention for all outcomes. In addition, significant differences were found between the intervention and control groups in favor of massaging. Therefore, massage therapy is more effective than rocking for treating infant colic symptoms. PMID:27453882

  4. [Combination of pulsed dye laser and propranolol in the treatment of ulcerated infantile haemangioma].

    PubMed

    Rodríguez-Ruiz, M; Tellado, M G; del Pozo Losada, J

    2016-02-01

    Ulceration is the most common complication of infantile haemangioma, with 15.8% of them usually appearing in the proliferative phase. They can be managed in several ways. We present our experience in the treatment of ulcerated haemangioma with the combination of pulsed dye laser and propranolol. A retrospective observational study was conducted on patients with ulcerated infantile haemangioma treated with pulsed dye laser in association with propranolol. The study included 7 patients, 3 cases in labial area and 4 cases in the nappy area. A review was also performed on a historical cohort of 5 children with ulcerated haemangiomas with the same features, but treated only with propranolol, topical agents and occlusive dressings. The median size of the ulcer was 1.0 cm, and there was a mean time of onset pre-treatment of 2 weeks. Pain and bleeding was present in all patients. After 2 weeks of combined propranolol and laser treatment, all lesions were healed. The pain disappeared after the first laser session. Patients with ulcerative haemangioma in the labial area obtained a better response than patients with haemangioma in the nappy area. The cohort of patients treated with propranolol required a mean healing time of 5.2 weeks, with the addition of an occlusive dressing with ointment. We believe that our results suggest that combined treatment, laser and propranolol, has synergistic effects that accelerate the healing of ulcerated haemangioma, as observed in our patients. Further studies with larger numbers of patients are needed to confirm this fact. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  5. The Role of the Pharmacist in the Treatment of Patients with Infantile Hemangioma Using Propranolol.

    PubMed

    Castaneda, Saul; Melendez-Lopez, Samuel; Garcia, Esbeydy; De la Cruz, Hermelinda; Sanchez-Palacio, Jose

    2016-10-01

    Infantile hemangiomas (IH) are the most common benign vascular tumors of childhood, with an incidence of 5-10% during the first year of age. Propranolol is considered the first-line treatment for this condition. Potentially there is a high probability of negative results to therapy, because in many countries there are no treatment protocols or propranolol formulations appropriate for the pediatric population. The objective of the present study was to evaluate the impact of pharmacist interventions such as detecting, analyzing, and solving problems presented during treatment with propranolol in patients with IH. An open observational prospective study was performed over 25 months in a group of pediatric patients diagnosed with infantile hemangioma treated with propranolol. Pharmacist participation consisted of development of an extemporaneous formulation and counseling the child's parents. At each visit to the pharmacy service, family members were interviewed, detecting and classifying problems related to treatment. Sixty-three children with IH were treated during the period under review. Patient ages ranged from 3 to 11 months old; 64% were female and 36% were male. Forty-nine problems in 30 patients were detected, principally inadequate dose (18.4%), non-adherence to treatment (16.3%), side effects (14.3%), and wrong administration (14.3%). Of the problems detected, 81.6% were resolved. Interventions by the pharmacist in 27 patients were intensive counseling on adherence to therapy (20%), detection of adverse effects (11.4%), and adjustment of the dose (22.9%). In 95.2% of patients a good response to treatment was obtained compared with 77.2% reported in European studies without pharmacist intervention. It seems that pharmacist participation increases adherence to treatment and reduces the likelihood of adverse effects, allowing for safe and effective therapy in patients with IH.

  6. Role of oral propranolol in the treatment of infantile subglottic hemangioma.

    PubMed

    Li, Xiao-Yan; Wang, Ying; Jin, Lei; Chen, Jia-Rui

    2016-09-01

    To determine the efficacy of oral propranolol for the treatment of infantile subglottic hemangioma. 17 children (13 females and 4 males) with a median age at onset of treatment of 5 months were included in this study. Propranolol was administered after the presence of subglottic hemangioma was confirmed by laryngoscopy and a CT scan of the trachea with contrast. Propranolol was started at 1 mg/kg per day divided into 3 doses. Heart rate and blood pressure were monitored during treatment. If no side effects were observed, then the dose was increased to 1.5 mg/kg per day on the second day. 14 patients (82%) showed clinical improvement within 1 week of treatment initiation. In each of these patients, the diameter of the subglottic stenosis caused by the hemangioma decreased, and the hemangioma became lighter in color. Two children with cutaneous hemangiomata also exhibited significant improvements in their cutaneous lesions after treatment. One patient's treatment was stopped after 2 weeks for personal reasons (family issue). After treatment cessation, this patient's respiratory symptoms recurred and increased in severity over the next 2 weeks. The patient was restarted on propranolol, and the symptoms disappeared. One patient only partially responded to propranolol. One patient continued with a tracheostomy for 15 months due to the diffuse nature of the lesion and was just recently decannulated. One patient initially did not respond to propranolol and developed residual disease after open resection; this patient finally responded to propranolol after 6 months of therapy and was recently weaned off the drug. Oral propranolol is a safe and effective treatment for infantile subglottic hemangiomata and may be used as a first-line therapeutic modality.

  7. [A meta-analysis of treatment of infantile diarrhea with bifid triple viable bacterial tablet].

    PubMed

    Zhou, Xian-gang; Zhong, Qu; Li, Rui

    2005-06-01

    To assess the efficacy and safety of bifid triple viable bacterial tablet in treatment of infantile diarrhea. According to the requirements of Cochrane systematic review, a thorough literature search was performed among Chinese Digital Hospital Library (www.chkd.cnki.net) and Chinese Biomedical Literature Disk Database (CBMdisk). A meta analysis was performed on a total of 1326 patients involved in 12 papers which met the inclusion criteria. Publication bias analysis showed that the funnel plot was symmetrical. Test for heterogeneity showed that the groups treated with bifid triple viable bacterial tablet and antibiotics or anti-viral agents or placebo control had clinical homogeneity and statistical homogeneity (P = 0.66, 0.67, 0.85, respectively, I(2) = 0%), which allowed to use fixed effect model analysis. The bifid triple viable bacterial tablet and Smecta did not have statistical homogeneity (P = 0.02, I(2) = 70.9%), therefore random effect model analysis was applied. Incorporation analysis showed that in comparison of the bifid triple viable bacterial tablet versus antibiotics or anti-viral agents or placebo control, the odds ratios were 5.34, 4.74 and 6.43, respectively, and 95% CIs were [2.81, 10.16], [2.47, 9.09], and [2.61, 15.83], on test for overall effect, Z = 5.11, 4.67 and 4.04, P < 0.00001. In the forest plot the 95% CI horizontal line of incorporation odds ratio droped to the right side of the vertical line indicating the border of effectiveness. However, no statistically significant difference was found between bifid triple viable bacterial tablet and Smecta. The clinical evidences available so far indicated that treatment of infantile diarrhea with bifid triple viable bacterial tablet is safe and effective although rigorously designed large sample size randomized double blind clinical trials are required to further demonstrate and support the conclusion.

  8. [Effect of early surgery in essential infantile esotropia on the quality of binocular vision].

    PubMed

    Autrata, R; Hromádková, L; Rehůrek, J

    2002-01-01

    In a retrospective study of 397 children operated in the course of 10 years (1985-1995) on account of essential infantile esotropia the authors evaluate the effect of early surgery implemented before the age of two years on the quality of binocular vision as compared with a later operation. The group of children was divided into three sub-groups. Group A comprised 75 children with the operation during the first six months of life (mean 3.8 months), sub-group B 194 children with the operation at the age of 6-24 months and in group C 128 children operated at the age of 2-6 years (mean 3.56 years). In group A binocular vision was recorded in 80% children (15% superposition, 60% fusion, 5% stereopsy). In groups B binocular vision was recorded in 76% children (18% superposition, 50% fusion, 8% stereopsy). In group C simple binocular vision in the form of superposition was present in 24% and fusion only in 21% children. The results of binocular vision after surgery of essential infantile esotropia are in favour of early surgery, preferably by the age of 6 months, not later than at the age of 2 years. An essential part of comprehensive treatment is active and positive pleoptic and orthoptic care incl. supplementary surgical correction of residual horizontal or vertical deviations. Early surgery of an adequate extent with a safeguarded parallel position of the eyes implies in the long run more frequent achievement of a higher quality of binocular vision incl. stereopsy.

  9. Interdisciplinary management of infantile short bowel syndrome: resource consumption, growth, and nutrition.

    PubMed

    Olieman, Joanne F; Poley, Marten J; Gischler, Saskia J; Penning, Corine; Escher, Johanna C; van den Hoonaard, Thelma L; van Goudoever, Johannes B; Bax, Nikolaas M A; Tibboel, Dick; IJsselstijn, Hanneke

    2010-03-01

    To date, there are hardly any data on the treatment costs of infantile short bowel syndrome (SBS), despite growing interest in evidence-based and cost-effective medicine. Therefore, the aim of the study was to evaluate resource consumption and costs, next to studying nutritional and growth outcomes, in children with SBS who were treated by an interdisciplinary short bowel team. Data were collected for 10 children with infantile SBS (

  10. Clinical and ictal characteristics of infantile seizures: EEG correlation via long-term video EEG monitoring.

    PubMed

    Yu, Hee Joon; Lee, Cha Gon; Nam, Sook Hyun; Lee, Jeehun; Lee, Munhyang

    2013-09-01

    The semiology of infantile seizures often shows different characteristics from that of adults. We performed this study to describe clinical and ictal characteristics of infantile seizures at less than two years of age. A retrospective study was done for infants with epilepsy (ages: 1-24months) who underwent long-term video electroencephalography (EEG) monitoring at Samsung medical center between November 1994 and February 2012. We analyzed the clinical and ictal characteristics of the 56 cases from 51 patients. In 69% of the patients, the seizure onset was before six months of age and the etiology was symptomatic in one third of the patients. Twelve seizure types were identified; spasms (24%), unilateral motor seizures (18%), and generalized tonic seizures (15%) were the three frequent types of seizure. All partial seizures were well correlated with the partial-onset ictal EEG, however 19.4% (7/36) of clinically generalized seizures revealed partial-onset ictal EEG. About one-thirds (4/11) of generalized tonic seizures had its ictal onset on unilateral or bilateral frontal areas and two out of seven generalized myoclonic seizures showed unilateral frontal rhythmic activities. Hypomotor seizures mainly arose from the temporal areas and hypermotor seizures from the frontal regions. Even though most of the seizure semiology of infants is well correlated with ictal EEG, some of the generalized tonic seizures or myoclonic seizures revealed partial-onset ictal EEG suggesting localized epileptic focus. Accurate definition of seizures via video EEG monitoring is necessary for proper management of seizures in infancy, especially in some clinically generalized seizures. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  11. Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.

    PubMed

    Zhou, Ailing; Han, Song; Zhou, Zhaolan Joe

    2017-02-01

    The discovery that mutations in cyclin-dependent kinase-like 5 (CDKL5) gene are associated with infantile epileptic encephalopathy has stimulated world-wide research effort to understand the molecular and genetic basis of CDKL5 disorder. Given the large number of literature published thus far, this review aims to summarize current genetic studies, draw a consensus on proposed molecular functions, and point to gaps of knowledge in CDKL5 research. A systematic review process was conducted using the PubMed search engine focusing on CDKL5 studies in the recent ten years. We analyzed these publications and summarized the findings into four sections: genetic studies, CDKL5 expression patterns, molecular functions, and animal models. We also discussed challenges and future directions in each section. On the clinical side, CDKL5 disorder is characterized by early onset epileptic seizures, intellectual disability, and stereotypical behaviors. On the research side, a series of molecular and genetic studies in human patients, cell cultures and animal models have established the causality of CDKL5 to the infantile epileptic encephalopathy, and pointed to a key role for CDKL5 in regulating neuronal function in the brain. Mouse models of CDKL5 disorder have also been developed, and notably, manifest behavioral phenotypes, mimicking numerous clinical symptoms of CDKL5 disorder and advancing CDKL5 research to the preclinical stage. Given what we have learned thus far, future identification of robust, quantitative, and sensitive outcome measures would be the key in animal model studies, particularly in heterozygous females. In the meantime, molecular and cellular studies of CDKL5 should focus on mechanism-based investigation and aim to uncover druggable targets that offer the potential to rescue or ameliorate CDKL5 disorder-related phenotypes.

  12. Infantile spasms: III. Prognostic implications of bitemporal hypometabolism on positron emission tomography.

    PubMed

    Chugani, H T; Da Silva, E; Chugani, D C

    1996-05-01

    Positron emission tomography (PET) of brain glucose utilization is highly sensitive in detecting focal cortical abnormalities in patients with infantile spasms even when the computed tomographic (CT) and magnetic resonance imaging (MRI) scans are normal. Of 110 infants with spasms evaluated for potential surgical intervention during an 8-year period, we encountered 18 infants (7 males, 11 females; age range, 10 mo to 5 yr) with a common metabolic pattern on positron emission tomography (PET) consisting of bilateral hypometabolism in the temporal lobes. CT and MRI scans did not reveal any focal abnormalities in the 18 infants. Video-electroencephalographic monitoring indicated either bilateral or multifocal epileptogenicity, or failed to show any epileptic focus, so that none of the 18 infants were considered candidates for resective surgery. These patients were then enrolled in a prospective study aimed at determining long-term outcome in the presence of bilateral temporal PET hypometabolism. Analysis of outcome in 14 of the 18 subjects (follow-up period, 10 mo to 10 yr 5 mo; mean, 3 yr 11 mo +/- 2 yr 4 mo [SD]) revealed the following: (1) all had severe developmental delay and had failed to gain significant milestones; (2) language development had been minimal or absent; (3) 10 of the 14 met the DSM-IV criteria for autistic disorder. Our findings indicate that patients with infantile spasms and bitemporal glucose hypometabolism on PET comprise a relatively homogeneous group and are typically not candidates for cortical resection. The long-term outcome of these infants is particularly poor and the majority are autistic.

  13. Effectiveness and Safety of Oral Propranolol versus Other Treatments for Infantile Hemangiomas: A Meta-Analysis

    PubMed Central

    Liu, Xiaohan; Qu, Xinhua; Zheng, Jiawei; Zhang, Ling

    2015-01-01

    Background Epidemiological studies evaluating treatments for infantile hemangiomas have produced inconsistent results. A meta-analysis of published data was conducted to investigate the effectiveness and safety of oral propranolol versus other treatments for infantile hemangiomas. Methods A meta-analysis was conducted based on literature (published from 1960 to December 1, 2014) found on the PubMed, EMBASE, and OVID search engines. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for the outcome measures. Heterogeneity, publication bias and subgroup analysis were performed. Results A total of 61 studies involving 5,130 participants met the inclusion criteria. Propranolol was found to be a more effective modality in treating IHs (ORs = 0.92; 95%CI, 0.89–0.95) and had fewer complications compared to the other treatments including systemic steroids (ORs = 0.68; 95% CI, 0.59–0.76); laser ablation (ORs = 0.55; 95% CI, 0.43–0.67); other beta-adrenergic blockers (ORs = 0.56; 95% CI, 0.50–0.61) and surgery (ORs = 0.55; 95% CI, 0.28–0.81). A subgroup analysis of propranolol showed that a dose of 2 mg/kg/day or more yielded better outcomes (ORs = 0.92; 95% CI, 0.88–0.95; ORs = 0.95; 95% CI, 0.89–1.00), and IHs that had not been previously treated had better responses to propranolol treatment (ORs = 0.95; 95% CI, 0.91–0.98). Conclusions The meta-analysis demonstrated that propranolol was more effective and safer than other therapies in treating IHs. It provides strong evidence for supporting the use of propranolol as a first-line therapy for IHs. PMID:26375455

  14. Long-term prognosis after infantile spasms: a statistical study of prognostic factors in 200 cases.

    PubMed

    Matsumoto, A; Watanabe, K; Negoro, T; Sugiura, M; Iwase, K; Hara, K; Miyazaki, S

    1981-02-01

    A follow-up study was made on 200 children (115 boys, 85 girls) who had had infantile spasms, in order to compare their present condition over the age of six years with various prognostic factors. 48 of the children (30 males and 18 females) had died, and all the rest were aged six years or older at the time of final follow-up. 139 of the children had received ACTH therapy: at final follow-up, spasms had ceased in 43.5 per cent, and about the same proportion showed normal physical development; 23 per cent had normal mental development and 15.4 per cent were attending ordinary schools. Complete recovery (normal mental and physical development and attending ordinary schools) was achieved in only 19 cases (9.5 per cent). Of the cryptogenic cases, 44.4 per cent had made a full recovery. The poor prognostic factors for continuing seizures were evolution into other types of fits, relapse of seizures after ACTH therapy, seizures concomitant with spasms, and convulsions before the onset of spasms. Poor prognostic factors for physical development were delayed development before the onset of spasms, neurological abnormalities, PEG abnormality, symptomatic aetiology, neonatal convulsions, low birthweight, perinatal asphyxia and being female. Poor prognostic factors for mental development were delayed development before the onset of spasms, neurological abnormalities, PEG abnormality, prenatal and perinatal aetiology, relapse after initial ACTH therapy, laughing attacks, and evolution into other types of fits. Only in the cryptogenic cases was there significant correlation between the delay in treatment and the long-term prognosis for mental development. Poor prognostic factors for educability were very similar to those for mental development. In spite of conflicting views as to the long-term effects of ACTH, prompt treatment seems to be mandatory, at least in cryptogenic cases of infantile spasms.

  15. The clinical evaluation of infantile nystagmus: What to do first and why.

    PubMed

    Bertsch, Morgan; Floyd, Michael; Kehoe, Taylor; Pfeifer, Wanda; Drack, Arlene V

    2017-01-01

    Infantile nystagmus has many causes, some life threatening. We determined the most common diagnoses in order to develop a testing algorithm. Retrospective chart review. Exclusion criteria were no nystagmus, acquired after 6 months, or lack of examination. pediatric eye examination findings, ancillary testing, order of testing, referral, and final diagnoses. Final diagnosis was defined as meeting published clinical criteria and/or confirmed by diagnostic testing. Patients with a diagnosis not meeting the definition were "unknown." Patients with incomplete testing were "incomplete." Patients with multiple plausible etiologies were "multifactorial." Patients with negative complete workup were "motor." A total of 284 charts were identified; 202 met inclusion criteria. The three most common causes were Albinism (19%), Leber Congenital Amaurosis (LCA; 14%), and Non-LCA retinal dystrophy (13%). Anatomic retinal disorders comprised 10%, motor another 10%. The most common first test was MRI (74/202) with a diagnostic yield of 16%. For 28 MRI-first patients, nystagmus alone was the indication; for 46 MRI-first patients other neurologic signs were present. 0/28 nystagmus-only patients had a diagnostic MRI while 14/46 (30%) with neurologic signs did. The yield of ERG as first test was 56%, OCT 55%, and molecular genetic testing 47%. Overall, 90% of patients had an etiology identified. The most common causes of infantile nystagmus were retinal disorders (56%), however the most common first test was brain MRI. For patients without other neurologic stigmata complete pediatric eye examination, ERG, OCT, and molecular genetic testing had a higher yield than MRI scan. If MRI is not diagnostic, a complete ophthalmologic workup should be pursued.

  16. Infantile haemangiomas that failed treatment with propranolol: clinical and histopathological features.

    PubMed

    Phillips, Roderic J; Lokmic, Zerina; Crock, Catherine M; Penington, Anthony

    2014-08-01

    To describe the clinical and histopathological characteristics of infantile haemangiomas that failed treatment with oral propranolol . This study is a case series from the vascular birthmarks clinic at Royal Children's Hospital, Melbourne. The patients for this study were infants who commenced treatment with oral propranolol before 6 months of age and who were treated for at least 4 months without a satisfactory result. For histology and immunohistochemistry, tissue from the four non-responding patients who subsequently underwent surgical excision was matched with four historical controls. Based on medical record review and photographic assessments, infants were defined as having failed treatment with oral propranolol if the infantile haemangioma either continued to grow or showed 20% improvement or less. Tissue sections were examined for tissue structure, mast cells, sympathetic innervations and beta-2 adrenergic receptor expression, and the number of mast cells and beta-2 adrenergic positive cells. From a group of 135 infants who met the inclusion criteria, 14 infants failed propranolol treatment. Eleven of these infants had focal facial haemangiomas. No difference was seen in tissue morphology, tissue innervations, beta-2 adrenergic receptor expression, cell number or mast cell distribution, and number between non-responding and control haemangiomas. We report a treatment failure rate of 10%, which is higher than previously reported. Focal facial lesions failed to respond twice as frequently as other types of haemangioma. No histopathological reason was identified to indicate why some haemangiomas failed to respond. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  17. Cardiovascular and blood glucose parameters in infants during propranolol initiation for treatment of symptomatic infantile hemangiomas.

    PubMed

    Puttgen, Katherine B; Summerer, Barbara; Schneider, Jeremy; Cohen, Bernard A; Boss, Emily F; Bauman, Nancy M

    2013-09-01

    We sought to determine the effect of propranolol on cardiovascular and blood glucose parameters in infants with symptomatic infantile hemangiomas who were hospitalized for initiation of treatment, and to analyze adverse effects of propranolol throughout the course of inpatient and outpatient treatment. A retrospective cohort analysis was performed on 50 infants (age less than 12 months) with symptomatic infantile hemangiomas who were hospitalized for propranolol initiation between 2008 and 2012. Demographic data and disease characteristics were recorded. Systolic and diastolic blood pressures, heart rate, blood glucose values, and adverse events recorded during hospitalization were analyzed. An additional cohort of 200 consecutively treated children was also assessed for adverse events associated with outpatient propranolol use. The median age among the inpatient cohort was 3.4 months (range, 0.8 to 12.0 months). Infants older than 6 months were more likely to exhibit bradycardia than were younger infants (p < 0.001). Hypotensive and/or bradycardic periods were infrequent and were not associated with observable clinical symptoms. The mean systolic and diastolic blood pressures and the mean heart rate decreased significantly from day 1 of hospitalization to day 2 (p = 0.004; p = 0.008; p < 0.001), but not from day 2 to day 3, when the propranolol dose was increased to target. Hypoglycemia was rare (0.3% incidence.) Among the 250 outpatients, 2 infants developed lethargy and hypoglycemia during a viral illness and recovered without sequelae. One infant experienced recurrent bronchospasm with viral illnesses and required concomitant bronchodilator therapy. Frequent deviations from normal ranges of blood pressure and heart rate occur upon initiation of propranolol, but are clinically asymptomatic. These findings support that outpatient initiation of propranolol in healthy, normotensive infants appears to be a relatively safe alternative to inpatient initiation

  18. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.

    PubMed Central

    Anderson, D R

    1981-01-01

    Tissue from ten eyes with infantile glaucoma and from 40 normal eyes of fetuses and infants without glaucoma were examined by light and electron microscopy. In normal development, the corneoscleral coat grows faster than the uveal tract during the last trimester, leading to a posterior migration of the ciliary body attachment from Schwalbe's line (5th month) to the scleral spur (9th month), and then to a location behind the scleral spur (postnatally). In infantile glaucoma, the insertion of the anterior ciliary body and iris overlaps the trabecular meshwork, similar to the late fetal position. The trabecular sheets are perforated, and there is no membrane over the surface of the trabecular meshwork. The trabecular beams are thicker than in normal infant eyes. There is both histologic and clinical evidence of traction on the iris root exerted by the thickened trabecular beams. These findings suggest that in congenital glaucoma the thickened beams had prevented the normal posterior migration of the ciliary body and iris root. This traction may compact the thickened trabecular beams, obstructing aqueous humor outflow. Release of the traction by an incision (goniotomy or trabeculotomy) of the thickened meshwork may relieve the obstruction. Of uncertain pathological significance is that there are no vacuoles in the endothelium of Schlemm's canal and there is a broad layer of collagen and amorphous material in the juxtacanalicular connective tissue. The ciliary processes are elongated inward, as if they were pulled by zonular traction (perhaps created by an enlarging diameter of the limbus with a fixed lens diameter). Images FIGURE 7 FIGURE 8 FIGURE 10 FIGURE 11 FIGURE 20 A FIGURE 20 B FIGURE 1 FIGURE 3 FIGURE 4 A FIGURE 4 B FIGURE 5 A FIGURE 5 B FIGURE 6 FIGURE 9 FIGURE 12 FIGURE 13 FIGURE 14 FIGURE 15 FIGURE 16 FIGURE 17 FIGURE 18 FIGURE 19 PMID:7342408

  19. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

    PubMed Central

    Spiegel, Ronen; Saada, Ann; Flannery, Padraig J; Burté, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W; Bindoff, Laurence A; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A; Elpeleg, Orly; Yu-Wai-Man, Patrick

    2016-01-01

    Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. Objective To identify the causative genetic defect in two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Methods We describe a comprehensive clinical, biochemical and molecular genetic investigation of two affected siblings from a consanguineous family. Molecular genetic analysis was done by a combined approach involving genome-wide autozygosity mapping and next-generation exome sequencing. Biochemical analysis was done by enzymatic analysis and Western blot. Evidence for mitochondrial DNA (mtDNA) instability was investigated using long-range and real-time PCR assays. Mitochondrial cristae morphology was assessed with transmission electron microscopy. Results Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy. The disease progression was ultimately fatal with severe encephalopathy and hypertrophic cardiomyopathy. Mitochondrial respiratory chain complex activities were globally decreased in skeletal muscle biopsies. They were found to be homozygous for a novel c.1601T>G (p.Leu534Arg) mutation in the OPA1 gene, which resulted in a marked loss of steady-state levels of the native OPA1 protein. We observed severe mtDNA depletion in DNA extracted from the patients’ muscle biopsies. Mitochondrial morphology was consistent with abnormal mitochondrial membrane fusion. Conclusions We have established, for the first time, a causal link between a pathogenic homozygous OPA1 mutation and human disease. The fatal multisystemic manifestations observed further extend the complex phenotype associated with pathogenic OPA1 mutations, in particular the previously unreported association

  20. Role of ultrasonography in early diagnosis of infantile hypertrophic pyloric stenosis.

    PubMed

    Khan, Ashar Ahmad; Yousaf, Muhammad Aslam; Ashraf, Muhammad

    2014-01-01

    Infantile hypertrophic pyloric stenosis (IHPS) is a common cause of gastric outlet obstruction in infants. This study was conducted to identify the accuracy of ultrasonography in the diagnosis of infantile Hypertrophic pyloric Stenosis. This cross-sectional descriptive study was conducted in Department of Paediatric Surgery, Children Hospital Complex & the Institute of Child Health, Multan during two year period from 1st July, 2010 to 30t of June, 2012. Fifty patients <8 weeks of age who presented with complaints of non-bilious vomiting were included in the study. Abdominal ultrasound was performed in all the cases. On ultrasonography pyloric canal length, diameter and pyloric muscle wall thickness was measured. Open surgery was performed as per indications and after informed consent. The pre-operative findings were compared with ultrasongraphic findings. Study variable were male to female ratio, percentage of - cases in which pyloric mass was palpable. We also compare the duration of onset of symptorms with pyloric canal length, diameter and muscle thickness. In this study, out of 50 patients, 46 (92%) were male and 4 (8%) were females. Gastric peristalsis was visible in 100% patients and mass was palpable in 14 (28%) patients. Pyloric canal length was more than standard in 98% cases; canal diameter was more than the standard in 87% cases and pyloric muscle thickness in 60% of cases. Ultrasonographic findings remained 98% accurate in this study. Ultrasonography is an investigation of choice for early diagnosis of IHPS before significant fluid and electrolyte imbalance occur. It is cost effective, harmless, freely available and easier to perform. Pyloric canal length and diameter are more specific for the diagnosis of IHPS than pyloric muscle thickness.