Note: This page contains sample records for the topic syndrome ressonancia magnetica from Science.gov.
While these samples are representative of the content of Science.gov,
they are not comprehensive nor are they the most current set.
We encourage you to perform a real-time search of Science.gov
to obtain the most current and comprehensive results. Last update: August 15, 2014.
NINDS Asperger Syndrome Information Page Condensed from Asperger Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Asperger Syndrome? Asperger syndrome (AS) is a developmental disorder. ...
NINDS Cushing's Syndrome Information Page Synonym(s): Hypercortisolism Table of Contents (click to jump to sections) What is Cushing's Syndrome? Is ... is being done? Clinical Trials Organizations What is Cushing's Syndrome? Cushing's syndrome, also called hypercortisolism , is a rare ...
De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome ...
Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the ...
... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...
... syndrome. Top What are the characteristics of the three types of Usher syndrome? Type 1 Children with ... RP often not apparent until the teens. Type 3 Children with type 3 Usher syndrome have normal ...
... Duane syndrome? Duane syndrome (DS) is a rare, congenital (present from birth) eye movement disorder. Most patients ... or DR syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane Syndrome. In ...
... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...
Fregoli syndrome is the delusional belief that one or more familiar persons, usually persecutors following the patient, repeatedly change their appearance. This syndrome has often been discussed as a variant of the Capgras syndrome in the literature, but these two syndromes have different phenomenological structures and age and sex distributions. The author presents a review of 34 cases of Fregoli syndrome in the English and French language literature, discussing the syndrome's definition, aetiology and course. It is suggested that although an organic substrate may be found in some cases, it is the dominant psychotic theme which determines the content of the syndrome. PMID:7893241
... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related ...
... disorders. NIH Patient Recruitment for Moebius Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Moebius Syndrome Foundation P.O. ...
Trichorhinophalangeal syndrome type 1 is an autosomal dominant variety of peripheral dysostosis. I have reviewed nine cases of this syndrome and have described two of these cases. I have also presented an extensive review of the literature. PMID:1925732
... form: Mild to no mental deficiency Both forms: Carpal tunnel syndrome Coarse features of the face Deafness (gets ... Airway obstruction Carpal tunnel syndrome Hearing loss that gets ... of ability to complete daily living activities Joint stiffness ...
Metabolic syndrome is a name for a group of risk factors that occur together and increase the risk ... Metabolic syndrome is becoming more and more common in the United States. Researchers are not sure whether the ...
Compartment syndrome is a serious condition that involves increased pressure in a muscle compartment. It can lead to ... need to be amputated. Swelling that leads to compartment syndrome occurs from trauma such as a car accident ...
... Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to jump to ... Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It ...
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…
Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.
In recent years, a number of comprehensive reviews have been written on inherited intestinal polyposis syndromes (1–7), but none has dealt specifically with Gardner's syndrome and none has focused on basic research being carried out in an attempt to under-stand this syndrome and to improve the medical management of affected patients. A better understanding of this rare genetic disorder is
Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the microdeletion region and the physical and neuropsychiatric phenotype
Doron Gothelf; Amos Frisch; Elena Michaelovsky; Abraham Weizman; Robert J. Shprintzen
Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.
Dysfunction of higher cortical function and neurobehavioral syndromes may be present in up to 87% of stroke patients. These symptoms may occur less often in patients with transient ischemic attacks (36%). Approximately 22% of stroke patients may present only with cognitive and neurobehavioral symptoms without elementary neurological deficits. In this chapter we concentrate on delusions, hallucinations, misidentification syndromes, anosognosia of hemiplegia, aggressive behavior and also extended self syndrome. PMID:22377864
The urofacial syndrome is characterized by functional obstructive uropathy associated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure. PMID:22382233
Kounis syndrome was described in 1991 by Kounis and Zavras as the coincidental occurrence of acute coronary syndromes with allergic reactions (anaphylactic or anaphylactoid). Today, allergic angina and allergic myocardial infarction are referred to as Kounis syndrome, and the latter has been reported in association with a variety of drugs, insect stings, food, environmental exposures and medical conditions, among other factors. The incidence is not known, as most of the available information comes from case reports or small case series. In this article, the clinical aspects, diagnosis, pathogenesis, related conditions and therapeutic management of the syndrome are discussed. PMID:22154226
Rico Cepeda, P; Palencia Herrejón, E; Rodríguez Aguirregabiria, M M
Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus.
Acrokeratosis Paraneoplastica or Bazex syndrome is a dermatologic manifestation usually associated with the diagnosis of squamous cell carcinoma of the upper aerodigestive tract. We report a case with exuberant clinical manifestations, exemplifying the typical cutaneous lesions in this rare syndrome, in a patient with squamous cell carcinoma of the esophagus. PMID:24346922
Three cases of LEOPARD-syndrome are presented. A review of literature is given. Among the symptoms of the syndrome lentigines, ECG-abnormalities, pulmonal-stenosis, retardation of growth and deafness show the strongest penetrance and are most constantly found. PMID:483956
Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.
Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.
Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively. This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.
... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic ... cardiofaciocutaneous syndrome. Read more about Costello syndrome and Noonan syndrome . How common is cardiofaciocutaneous syndrome? Cardiofaciocutaneous syndrome is ...
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, initially recognized as a serious form of cutaneous drug adverse reaction, is now viewed as a drug-related syndrome that can cause life-threatening organ dysfunctions. Characteristic features include a long time interval from first drug exposure to symptom onset and a prolonged course, often with flares, even after discontinuation of the causal drug. The pathophysiology of DRESS syndrome remains incompletely understood but involves reactivation of herpes viruses (HHV-6, HHV-7, EBV, and CMV), against which the body mounts a strong immune response. The culprit drugs may not only affect epigenetic control mechanisms, thereby promoting viral reactivation, but also induce an antiviral T-cell response by interacting with the major histocompatibility complex receptor in individuals with genetic susceptibility factors. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a potentially life-threatening form of cutaneous drug adverse reaction. The severity of this syndrome is related to the systemic manifestations, which can result in multiorgan failure. DRESS syndrome is characterized by highly specific features, most notably regarding the timing of the manifestations. New insights into the underlying pathophysiological mechanisms indicate a role for immunogenetic susceptibility factors and for reactivation of human herpes viruses (HHVs), chiefly HHV-6. We report a typical case of DRESS syndrome and discuss recent data about this condition. PMID:23816504
A variety of diagnostic advances including radioimmunoassay of adrenocorticotropic hormone (ACTH) have increased the number of methods for laboratory investigation of Cushing syndrome.* However, experience with these procedures has led to a recognition of their limitations. We have developed an algorithm which incorporates these newer techniques and minimizes the number of procedures required to diagnose the various causes of Cushing syndrome. At present, we recommend pituitary surgical operations for pituitary-dependent Cushing syndrome because we believe this disease is caused by the development of a pituitary ACTH-secreting tumor.
Lemierre syndrome is an uncommon disease which commonly arise from acute bacterial oropharyngeal infection. This disease was first described in 1900 by Courmont and Cade Lemierre. It is commonly caused by Fusobacterium necrophorum. Lemierre syndrome has been reported to be serious and potentially fatal in the preantibiotic era. It is characterized by an oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein with embolization to the lungs and other organs. The incidence has become relatively rare at present and is usually only diagnosed when unsuspected culture results are available. We report a case of Lemierre syndrome which was recently diagnosed in our centre. PMID:23082433
Metabolic syndrome is not a disease per se, but is a term that highlights traits that may have an increased risk of disease, approximately 2-fold for cardiovascular disease and 5-fold or more for type 2 diabetes mellitus. Obesity and insulin resistance are believed to be at the core of most cases of metabolic syndrome, although further research is required to truly understand the pathophysiology behind the syndrome and the gene-environment interactions that increase susceptibility. The mainstay of treatment remains lifestyle changes with exercise and diet to induce weight loss and pharmacologic intervention to treat atherogenic dyslipidemia, hypertension, and hyperglycemia. PMID:24582089
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome) and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes. Differential diagnoses include Huntington disease and other causes of progressive hyperkinetic movement disorders. There are no curative therapies for NA syndromes. Regular cardiologic studies and avoidance of transfusion complications are mandatory in McLeod syndrome. The hyperkinetic movement disorder may be treated as in Huntington disease. Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades.
... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...
... women who have had several dilatation and curettage (D&C) procedures. A severe pelvic infection unrelated to surgery ... Asherman syndrome if they occur suddenly after a D&C or other uterine surgery.
... is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat ... syndrome is a pervasive developmental disorder (PDD) or autism spectrum disorder (ASD). The main difference between Asperger ...
... child with Reye syndrome stays hydrated and maintains electrolyte balance, and monitors nutrition intake and cardiorespiratory status. ... might be done include blood tests to monitor electrolytes and liver function and an imaging study of ...
... The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.
... Multimedia Table Index In This Topic Digestive Disorders Anal and Rectal Disorders Levator Syndrome Diagnosis Treatment Back to Top Helpful Resources First Aid Pronunciations Common Medical Tests Drug Names Table ...
... have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is ... a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known ...
... noted by ridging along sutures Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... face Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...
Menkes syndrome is an inborn error of metabolism in which cells in the body can absorb copper, but are unable to release it. ... Houwen RHJ. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium, and Zinc. In: Saudubray J- ...
... Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment ...
... other problems, such as Attention deficit hyperactivity disorder (ADHD) Obsessive-compulsive disorder (OCD) Anxiety Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may ...
Neoplasms can produce a variety of remote effects on the host; these are referred to as paraneoplastic syndromes. The syndromes may affect any of the systems of the body, may precede or follow the diagnosis of the underlying neoplasm, and may or may not parallel the course of the neoplasm in severity. The diagnosis of and therapy for these syndromes can be challenging to a physician, but successful therapy may bring about worthwhile relief for the patient. In addition, the syndromes and the substances that cause them are sometimes useful in diagnosing and in following the course of certain neoplasms. Perhaps of greater importance, study of these remote effects of neoplasia may shed light on the nature of the neoplastic process itself.
... body. Think of it as a sort of "glue" that helps support your organs, blood vessels, bones, ... and muscles. In people with Marfan syndrome, this "glue" is weaker than normal. That's because of a ...
... Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A ... shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. Studies ...
... symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, ... people may experience only the mild symptoms of dry eyes and mouth, while others go through cycles of ...
... syndrome include: High levels of potassium , calcium, and chloride in the urine High levels of the hormones renin and aldosterone in the blood Low blood chloride Metabolic alkalosis These same signs and symptoms can ...
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies\\/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and
Piriformis syndrome (PS) is the reversible compression of the sciatic nerve by the piriformis muscle. It may cause deep and\\u000a severe pain in the buttock, hip, and sciatica, with radiation into the thigh, leg, foot, and toes. Like carpal tunnel or pronator\\u000a syndromes, it may cause damage to the peripheral nerve through excessive pressure (1). In PS, piriformis muscular tension
Opinion statement The dumping syndrome consists of early postprandial abdominal and vasomotor symptoms, resulting from osmotic fluid shifts\\u000a and release of vasoactive neurotransmitters, and late symptoms secondary to reactive hypoglycemia. Effective relief of symptoms\\u000a of dumping syndrome can be achieved with dietary modifications to minimize ingestion of simple carbohydrates and to exclude\\u000a fluid intake during ingestion of the solid portion of
... said she had chronic fatigue syndrome. What Is Chronic Fatigue Syndrome? Chronic fatigue syndrome (CFS) is a complicated disease ... connection between this and CFS. Continue Who Gets CFS? Chronic fatigue syndrome can affect people of all ...
... Editorial Board , 11/2013 Overview What is Muir-Torre syndrome? Muir-Torre syndrome is a form of ... his or her medical care. What causes Muir-Torre syndrome? Muir-Torre syndrome is a genetic condition. ...
Why Metabolic Syndrome Matters Updated:Mar 13,2014 Metabolic syndrome may be diagnosed when a patient has a cluster of risk factors for ... Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • Your Risk for Metabolic Syndrome • Symptoms & Diagnosis • Prevention & ...
Cowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. It is inherited in an autosomal dominant manner with ?80% of patients having a germ-line mutation of the PTEN tumour suppressor gene. Presenting signs and symptoms are highly non-specific. Nevertheless clinicians should be able to recognise this syndrome so that patients may be screened for cancerous growths and afforded the opportunity to have genetic testing to assist them and their family members in making medical management decisions. We present a review of this unusual but important condition with particular emphasis on the diagnostic criteria, clinical features, genetics, management and surveillance. PMID:20580873
The Kallmann syndrome is a very rare congenital association of gonadotropin-releasing hormone deficiency and hyposmia or anosmia. Clinically it is characterized by low serum concentrations of testosterone and inadequate low levels of luteinizing hormone and follicle-stimulating hormone as well as incomplete sexual maturation, lack of secondary sexual features (facial and body hair growth, deepening of the voice), micropenis and sometimes even cryptorchidism. The reduced or absent sense of smell is typical for the Kallmann syndrome and distinguishes this syndrome from other causes of hypogonadotropic hypogonadism. Additional findings may include synkinesia, hearing loss, unilateral renal aplasia, brachy- or syndactyly, agenesis of corpus callosum, cleft palate and dental agenesis. A 19-year-old man presented to our male infertility clinic with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, erectile dysfunction and absence of ejaculation, anemia and osteoporosis as well as low serum concentrations of luteinizing hormone, follicle-stimulating hormone and testosterone in combination with hyposmia. PMID:21918848
Mokosch, A; Bernecker, C; Willenberg, H S; Neumann, N J
Myelodysplastic syndromes are clonal marrow stem-cell disorders, characterised by ineffective haemopoiesis leading to blood cytopenias, and by progression to acute myeloid leukaemia in a third of patients. 15% of cases occur after chemotherapy or radiotherapy for a previous cancer; the syndromes are most common in elderly people. The pathophysiology involves cytogenetic changes with or without gene mutations and widespread gene hypermethylation at advanced stages. Clinical manifestations result from cytopenias (anaemia, infection, and bleeding). Diagnosis is based on examination of blood and bone marrow showing blood cytopenias and hypercellular marrow with dysplasia, with or without excess of blasts. Prognosis depends largely on the marrow blast percentage, number and extent of cytopenias, and cytogenetic abnormalities. Treatment of patients with lower-risk myelodysplastic syndromes, especially for anaemia, includes growth factors, lenalidomide, and transfusions. Treatment of higher-risk patients is with hypomethylating agents and, whenever possible, allogeneic stem-cell transplantation. PMID:24656536
Nine cases of Olmsted syndrome have been reported in the world literature. In this syndrome, keratoderma usually starts during infancy on the palms and soles when the baby starts to use the feet for walking and the hands for grasping. Within weeks or months, there is progressive spread of solid, symmetrical, thick hyperkeratotic keratoderma to both palms and soles, surrounded by erythematous margins. Contraction of fingers and deep fissuring of the feet are common complications. Symmetrical, yellow-brown hyperkeratotic plaques and papules are also observed around body orifices such as the mouth, nares, inguinal region, and perianal and gluteal areas. Other clinical manifestations have been reported, including diffuse alopecia, thin nails, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, exaggerated keratosis pilaris, and large verrucous plaques in the axillae. In the differential diagnosis, other keratoderma and hyperkeratotic syndromes should be considered. PMID:7640195
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.
The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.
Lemierre’s syndrome is a condition characterized by thrombophlebitis of the internal jugular vein and bacteremia caused by primarily anaerobic organisms, following a recent oropharyngeal infection. This has been an uncommon illness in the era of antibiotic therapy, though it has been reported with increasing frequency in the past 15 years. Lemierre’s syndrome should be suspected in young healthy patients with prolonged symptoms of pharyngitis followed by symptoms of septicemia or pneumonia, or an atypical lateral neck pain. Diagnosis is often confirmed by identification of thrombophlebitis of the internal jugular vein and growth of anaerobic bacteria on blood culture. Treatment involves prolonged antibiotic therapy occasionally combined with anticoagulation. We review the literature and a case of a child with Lemierre’s syndrome.
First described in 1992, Brugada syndrome is characterized by a specific electrocardiographic pattern in the right precordial leads and susceptibility to ventricular arrhythmias and sudden death. Brugada syndrome is included among the channelopathies, primary electrical disorders that, characteristically, are not associated with concomitant structural cardiac abnormalities. In recent years, substantial preclinical and clinical research has led to the identification of multiple causative mutations and to understanding of the mechanisms underlying the development of the characteristic phenotype and of the factors that determine clinical prognosis in patients. Nevertheless, there remain numerous unresolved questions which provide an impetus for ongoing active research into the condition. This article provides a summary of what is currently known about Brugada syndrome and an overview of the principal preclinical and clinical studies that have made the most significant contributions to our understanding of the condition. PMID:19889341
Benito, Begoña; Brugada, Josep; Brugada, Ramón; Brugada, Pedro
The new term Flammer syndrome describes a phenotype characterized by the presence of primary vascular dysregulation together with a cluster of symptoms and signs that may occur in healthy people as well as people with disease. Typically, the blood vessels of the subjects with Flammer syndrome react differently to a number of stimuli, such as cold and physical or emotional stress. Nearly all organs, particularly the eye, can be involved. Although the syndrome has some advantages, such as protection against the development of atherosclerosis, Flammer syndrome also contributes to certain diseases, such as normal tension glaucoma. The syndrome occurs more often in women than in men, in slender people than in obese subjects, in people with indoor rather than outdoor jobs, and in academics than in blue collar workers. Affected subjects tend to have cold extremities, low blood pressure, prolonged sleep onset time, shifted circadian rhythm, reduced feeling of thirst, altered drug sensitivity, and increased general sensitivity, including pain sensitivity. The plasma level of endothelin-1 is slightly increased, and the gene expression in lymphocytes is changed. In the eye, the retinal vessels are stiffer and their spatial variability larger; the autoregulation of ocular blood flow is decreased. Glaucoma patients with Flammer syndrome have an increased frequency of the following: optic disc hemorrhages, activated retinal astrocytes, elevated retinal venous pressure, optic nerve compartmentalization, fluctuating diffuse visual field defects, and elevated oxidative stress. Further research should lead to a more concise definition, a precise diagnosis, and tools for recognizing people at risk. This may ultimately lead to more efficient and more personalized treatment.
We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).
Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia
Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation. PMID:7537130
Böni, R; Böni, R H; Tsambaos, D; Spycher, M A; Trüeb, R M
The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomico-physiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of the capitate bone is not essential. According to both the literature and the personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a correct diagnosis of this lesion to avoid unnecessary attempts of reduction. PMID:2727333
Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345-8.)
Hepatorenal syndrome is a functional and reversible cause of renal failure that can occur in patients with chronic liver disease and portal hypertension; some factors have been related on his etiology like the alteration in the balance of multiple vasoconstrictor or vasodilator endogenous substances that affect the renal vascular bed and systemic circulation. There are pharmacological strategies that can prevent
JANNETH LILIANA JARAMILLO; JORGE IGNACIO GARCÍA; JOSÉ NELSON CARVAJALMEDELLÍN
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. PMID:24602044
Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan
Flatback syndrome is characterized by loss of normal lumbar lordosis, resulting in forward tilt of the trunk, inability to stand erect, back pain, and thigh pain from chronic hip flexion and knee bending. The usual etiology is iatrogenic, through previous fusions or with extension instrumentation. Surgical treatments described include extension osteotomy (Smith-Petersen), pedicle subtraction osteotomy, and polysegmental osteotomies. PMID:17556130
Wells syndrome or eosinophilic cellulitis is characterized clinically by an acute dermatitis resembling cellulitis and histopathologically by dermal eosinophilic infiltration. Various morphological presentations have been described. We report a 32-year-old female with recurrent, erythematous plaques on left forearm of 8 months duration, associated with mild itching that resolved leaving mild hyperpigmentation.
Background\\/Aims: Malabsorption syndromes commonly result from a pathological interference of the normal digestive process. There have been major advances in the last 4 years. The purpose of this review is to highlight in the form of a brief summary the most outstanding information available. Methods: The review was performed based on a medical literature search using MEDLINE (1993–1997), bibliographic reviews
Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest. PMID:24860755
Rud's syndrome is a rare autosomal recessive hereditary disorder characterized by congenital ichthyosis, epilepsy, dwarfism, sexual infantilism, polyneuritis, and macrocytic anemia. We report here an interesting case of this disorder in an 18-year-old girl for its rarity and academic interest.
The pathophysiology of substance withdrawal is elucidated by a review of classic and cutting-edge research. The manifestation and evaluation of the associated withdrawal syndromes from ethanol, sedative-hypnotics, opioids, and baclofen, are compared. The general management of and pharmacotherapy for these patients are discussed. PMID:10767884
... most often used. ACE inhibitors may also help decrease the amount of protein lost in the urine. You may take corticosteroids ... eating a moderate-protein diet (1 gram of protein per kilogram ... vitamin D supplements if nephrotic syndrome is long-term and not ...
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives. Images
Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting
Mirizzi syndrome is an important complication of gallstone disease. If not recognized preoperatively, it can result in significant morbidity and mortality. Preoperative diagnosis may be difficult despite the availability of multiple imaging modalities. Ultrasonography (US), CT, and magnetic resonance cholangiopancreatography (MRCP) are common initial tests for suspected Mirizzi syndrome. Typical findings on US suggestive of Mirizzi syndrome are a shrunken gallbladder, impacted stone(s) in the cystic duct, a dilated intrahepatic tree, and common hepatic duct with a normal-sized common bile duct. The main role of CT is to differentiate Mirizzi syndrome from a malignancy in the area of porta hepatis or in the liver. MRI and MRCP are increasingly playing an important role and have the additional advantage of showing the extent of inflammation around the gallbladder that can help in the differentiation of Mirizzi syndrome from other gallbladder pathologies such as gallbladder malignancy. Endoscopic retrograde cholangiopancreatography (ERCP) is the gold standard in the diagnosis of Mirizzi syndrome. It delineates the cause, level, and extent of biliary obstruction, as well as ductal abnormalities, including fistula. ERCP also offers a variety of therapeutic options, such as stone extraction and biliary stent placement. Percutaneous cholangiogram can provide information similar to ERCP; however, ERCP has an additional advantage of identifying a low-lying cystic duct that may be missed on percutaneous cholangiogram. Wire-guided intraductal US can provide high-resolution images of the biliary tract and adjacent structures. Treatment is primarily surgical. Open surgery is the current standard for managing patients with Mirizzi syndrome. Good short- and long-term results with low mortality and morbidity have been reported with open surgical management. Laparoscopic management is contraindicated in many patients because of the increased risk of morbidity and mortality associated with this approach. Endoscopic treatment may serve as an alternative in patients who are poor surgical candidates, such as elderly patients or those with multiple comorbidities. Endoscopic treatment also can serve as a temporizing measure to provide biliary drainage in preparation for an elective surgery. PMID:17391625
Ahlawat, Sushil K; Singhania, Rohit; Al-Kawas, Firas H
Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection and management of clinical complications such as scoliosis and febrile seizures. An adequate psychological and educational program with speech therapy and motor stimulation plays an important role in the global development of the patients. Final body height is difficult to predict but growth tends to normalize after puberty. PMID:17825104
The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…
Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. It is associated with ventricular fibrillation and a high risk for sudden cardiac death, predominantly in younger males with structurally normal hearts. Patients can remain asymptomatic, and electrocardiographic patterns can occur both spontaneously or after pharmacological induction. So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. Two consensus reports to define the diagnostic criteria, risk stratification, and management of patients have been published in the last few years. This brief review focuses on the recent clinical diagnosis, genetic basis, and advances in pharmacological treatment of Brugada syndrome.
A girl with tricho-rhino-phalangeal syndrome is described. Besides clinical and radiologic symptoms of type I of this syndrome (short stature, pear-shaped nose, prominent and elongated philtrum, small carious teeth, thin and sparse hair, badly shaped laterally protruding ears, deep voice, cone-shaped phalangeal epiphyses as well as shortening of metacarpal and metatarsal bones) the patient exhibits a group of abnormalities characteristic for type II (broad nasal bridge, thicker septum, laterally postured nostrils, heavier eyebrows, mild deafness and epilepsy). The girl also has the symptoms of primary hypothyroidism because of the ectopic thyroid gland, the first recorded instance up to now, so it is probably a coincidence. PMID:8302139
Dumi?, M; Ille, J; Mikecin, M; Cvitkovi?, M; Hitrec, V; Potocki, K
Marfan's syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor beta (TGFbeta), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGFbeta antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype. PMID:16325700
Hepatorenal syndrome is a severe complication of end-stage liver disease. The pathophysiological hallmark is severe renal vasoconstriction, resulting from peripheral and splanchnic vasodilation as well as activation of renal vasoconstrictor molecules, which induce the effective arterial volume reduction and the functional renal failure. The diagnosis of hepatorenal syndrome is currently based on the exclusion of other causes of renal failure (especially prerenal). Spontaneous bacterial peritonitis is one of the triggering factors and should be sought in all patients with severe liver disease and acute renal failure. Quickly treating patients with parental antibiotics and albumin infusion significantly decreases the risk. The combined use of intravenous albumin, splanchnic and peripheral vasoconstrictor and/or renal replacement therapy sometimes enables a delay until liver transplantation (or combined liver-kidney in selected patients). Transplantation is in fact the only way to improve the long-term prognosis. PMID:24388293
Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor ? (TGF?), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF ? antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype.
Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.
Brugada syndrome is characterized clinically by the onset of syncopes or sudden death related to ventricular tachyarrhythmias in patients with a structurally normal heart. Its electrocardiographic features include right bundle branch bloc and ST-segment elevations in the precordial leads V1-V3. The estimated prevalence is 1 per 1000 in Asian countries and probably lower elsewhere: Asia is probably a birthplace of the syndrome. Its transmission is autosomal dominant with variable penetrance. Mutations have been identified in a gene coding for the alpha subunit of the sodium channel (SCN5A) in only 25% of cases. These genetic abnormalities cause a reduction of the density of the sodium current and explain the aggravation of electrocardiographic abnormalities caused by antiarrhythmic sodium channel blockers. Prognosis is very serious in symptomatic patients: prevention of sudden death requires implantation of an automatic defibrillator. The treatment decision is much more difficult for asymptomatic subjects with no family history. PMID:17446038
Denjoy, Isabelle; Extramiana, Fabrice; Lupoglazoff, Jean-Marc; Leenhardt, Antoine
"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB). DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+).
PURPOSE: To report the first Japanese case of the Susac syndrome characterized by microangiopathy of the brain, retina, and cochlea.METHODS: Case report. A 36-year-old Japanese man underwent extensive clinical and laboratory examination for encephalopathy, bilateral recurrent branch retinal arterial occlusion, and hearing loss.RESULTS: This case was initially diagnosed as acute disseminated encephalomyelitis. Despite exhaustive clinical and laboratory examination of the
We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susac's syndrome. PMID:14968224
Lammouchi, Turkia M; Bouker, Samira M; Grira, Mounir T; Benammou, Sofien A
\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and
Opinion statement The complete and definitive treatment of patients with Mirizzi syndrome is surgical. The treatment goals are the removal of\\u000a the gallbladder with the offending stone(s) and the repair of the bile duct defect. A high index of suspicion for early recognition\\u000a of this condition is paramount to prevent bile duct injury. Biliary anatomy is delineated precisely by preoperative and
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations
Startle refers to a sudden involuntary movement of the body in response to a surprising and unexpected stimulus. It is a fast twitch of facial and body muscles evoked by a sudden and intense tactile, visual, or acoustic stimulus. While startle can be considered to be a protective function against injury, startle syndromes are abnormal responses to startling events, consisting of three heterogeneous groups of disorders. The first is hyperekplexia, characterized by brisk and generalized startle in response to trivial stimulation. The major form of hereditary hyperekplexia has a genetic basis, frequently due to mutations in the ?1 subunit of the glycine receptor (GLRA1) on chromosome 5q. In the second group, normal startle induces complex but stereotyped motor and/or behavioral abnormalities lasting several seconds, termed as startle epilepsy. It usually occurs in the setting of severe brain damage, particularly perinatal hypoxia. The third group is characterized by nonhabituating hyperstartling, provoked by loud noises, sudden commands, or gestures. The intensity of startle response tends to increase with frequency of stimulation, which often leads to injury. Interestingly, its occurrence is restricted to certain social or ethnic groups in different parts of the world, such as jumping Frenchmen of Maine among Franco-Canadian lumberjack communities, and Latah in Southeast Asia. So far, no neurological abnormalities have been reported in association with these neuropsychiatric startle syndromes. In this chapter, the authors discuss the clinical presentation, physiology, and the neuronal basis of the normal human startle as well as different groups of abnormal startle syndromes. The aim is to provide an overview of hyperstartling with some diagnostic hints and the distinguishing features among these syndromes. PMID:21496599
This paper consists the theorical review and the current concepts of the subject and the second includes the casuistry of the Stomatology Department of the Pulido Valente Hospital. From April 1989 to 1991 (2 years), a study was made on Sjögren Syndrome (Primary and Secondary) of multiple character with the particular co-operation of the Portuguese Institute of Rheumatology. With this paper we wish to point out the importance of the oral evaluation of the study of the plurisystemic diseases as well as to establish criterions of diagnosis for the Portuguese population. Eighty cases of suspected Sjögren's Syndrome have been assessed, 66 of which have been fully. The reason for the consultation was dry mouth, dry eyes and enlargement of parotid glands. The symptoms were isolated or in association with other pathologies after other causes had been excluded. We had to establish the salivary reference values for the Portuguese population in 22 healthy volunteers. The xerostomia was evaluated by the Sialochemistry, Sialography, Cintigraphy and biopsies of the lower lip and of the sublingual gland. The ophthalmologic examination took place in the Ophthalmology Department of Santo António dos Capuchos Hospital by means of Shirmer test, Rosa Bengala and B.U.T. In spite of Sjögren's Syndrome being, up to now, so remotely determined in connection with the treatment, these patients need medical care and Stomatology plays a fundamental role as far as the diagnosis and the therapeutic points of view are concerned. We maintain the notion that the Syndrome is not as infrequent as one would believe and the evaluation of the oral field is important to establish the degree of the disease and its treatment. PMID:7856465
Brito, A; Figueirinhas, J; Ramos, M; Soares, A L; Neves, L R; Lobo, J; Faro, L S
The term “masquerade syndrome” was first used in 1967 to describe a case of conjunctival carcinoma that presented as chronic\\u000a conjunctivitis . Since then, the term has been applied to range of disorders that may present as intraocular inflammation.\\u000a The disorders may be malignant or nonmalignant, but they share the common characteristic that intraocular inflammation is\\u000a not due to an
... tunnel syndrome is a painful condition caused by compression of a key nerve in the wrist. It ... carpal tunnel syndrome. Another clinical study is collecting data about carpal tunnel syndrome among construction apprentices to ...
... to submenu Parents & Individuals Information for Parents & Individuals Crouzon Syndrome To download the PDF version of this factsheet, click here What is Crouzon Syndrome? Crouzon syndrome, also called craniofacial dysostosis, is ...
Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. - www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke - www. ...
... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Fragile X syndrome? Fragile X syndrome is a genetic disorder that ...
... Was Just Figuring Out CGG Repeats! Donate | Print Fragile X Syndrome Fragile X syndrome (FXS) is a genetic condition ... females, and generally with greater severity. Features of Fragile X Syndrome in Males Read our Story The majority of ...
... eye problems. Do children with Down syndrome have eye problems? Individuals with Down syndrome are at increased ... When should children with Down syndrome receive an eye exam? The American Academy of Pediatrics recommends that ...
... Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ... problems related to sexual function. Do Individuals with Down Syndrome Have Sexual Feelings? In the past, sexuality ...
... around Reye's Syndrome and aspirin... Learn More The Foundation makes a special Reye's Syndrome Information package available ... help... Learn More Share: View National Reye's Syndrome Foundation's LinkedIn profile Spread Awareness with the Kids & Aspirin ...
Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gs?, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR–Gs?–cAMP–PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway.
Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable “bridge treatments” or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available. PMID:24444506
Hypokalaemia is a common clinical disorder, the cause of which can usually be determined by the patient's clinical history. Gitelman syndrome is an inherited tubulopathy that must be considered in some settings of hypokalaemia. We present the case of a 60-year-old male patient referred to our nephrology department for persistent hypokalaemia. Clinical history was positive for symptoms of orthostatic hypotension and polyuria. There was no history of drugs consumption other than potassium supplements. Complementary evaluation revealed hypokalaemia (2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535, bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160 mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of Gitelman syndrome was established. We reinforced oral supplementation with potassium chloride and magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our article is to remind Gitelman syndrome in the differential diagnosis of persistent hypokalaemia. PMID:23585506
Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gs?, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gs?-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway. PMID:24363928
Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension. This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys, where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration, which ultimately results in uraemia. The syndrome occurs almost exclusively in patients with ascites. Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output. Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure, but refractory ascites, and its impact on prognosis is less negative. Liver transplantation is the most appropriate therapeutic method, nevertheless, only a few patients can receive it. The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response. Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term. Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS. PMID:23049205
Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment. PMID:21342626
All living organisms must go through cycles of replicating their genetic information and then dividing the copies between two new cells. This cyclical process, in cells from bacteria and human alike, requires a protein complex known as cohesin. Cohesin is a structural maintenance of chromosomes (SMC) complex. While bacteria have one form of this complex, yeast have several SMC complexes, and humans have at least a dozen cohesin complexes alone. Therefore the ancient structure and function of SMC complexes has been both conserved and specialized over the course of evolution. These complexes play roles in replication, repair, organization, and segregation of the genome. Mutations in the genes that encode cohesin and its regulatory factors are associated with developmental disorders such as Roberts syndrome, Cornelia de Lange syndrome, and cancer. In this review, we focus on how acetylation of cohesin contributes to its function. In Roberts syndrome, the lack of cohesin acetylation contributes to nucleolar defects and translational inhibition. An understanding of basic SMC complex function will be essential to unraveling the molecular etiology of human diseases associated with defective SMC function.
Compartment syndrome can be defined as increased tissue pressure within a closed myofascial space, resulting in disturbed microcirculation and the potential for irreversible neuromuscular ischemic damage. It may present either acutely or chronically. Acute compartment syndrome most commonly occurs following lower limb trauma, and emergency decompression through open and extensive fasciotomies is the treatment of choice. There is little place for imaging in the acute setting because the diagnosis should be made on clinical grounds, possibly supported by measurements of compartmental pressure. Chronic compartment syndrome is more common, usually presenting with recurrent episodes of pain on exercise. The demonstration of elevated compartment pressures following exercise is currently the gold standard method for diagnosis. There is increasing interest in the use of imaging as either a potential alternative to compartmental pressure measurement or as an initial screening investigation prior to invasive testing. The literature evaluating the use of imaging techniques is reviewed, with an emphasis on the potential role of postexertional magnetic resonance imaging. PMID:20486031
... genetic terms used on this page. Learning About Fragile X Syndrome What is fragile X syndrome? What are the ... Additional Resources for Fragile X Syndrome What is fragile X syndrome? Fragile X syndrome is the most common form ...
... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: SLS Ichthyosis, Spastic Neurological Disorder, and Oligophrenia ...
Marfan syndrome is a genetic disorder of the connective tissue caused by mutations in FBN1 gene. There are approximately 2-3,000 Marfan patients in The Netherlands. It has a broad clinical spectrum with features in most organ systems. Aortic root aneurysm is the most important clinical problem in these patients as it is progressive and leads to dissection and rupture if untreated. Endocarditis prophylaxis is indicated in all Marfan patients with aortic root aneurysm and operated patients. Timely diagnosis and specialized patient care are essential for the prognosis of this disease. PMID:24555249
Behçet's syndrome (BS) shows a peculiar distribution, with a much higher prevalence in countries along the ancient Silk Road compared with rest of the world. BS also seems to follow a more severe course in ethnic groups with higher prevalence. Diagnosis depends on clinical findings. Criteria sets may not help in patients with less frequent types of involvement. Management strategies should be modified according to the age and sex of the patient and the organs involved. Being a serious health problem in endemic areas, BS also attracts global attention as a model to study inflammatory diseases of unknown cause. PMID:23597962
The hepatopulmonary syndrome (HPS) is a pulmonary complication of cirrhosis and/or portal hypertension whereby patients develop hypoxemia as a result of alterations in pulmonary microvascular tone and architecture. HPS occurs in up to 30% of patients with cirrhosis. Although the degree of hypoxemia does not reliably correlate with the severity of liver disease, patients with HPS have a higher mortality than do patients with cirrhosis without the disorder. There has been progress into defining the mechanisms that lead to hypoxemia in HPS, but to date there are no therapeutic options for HPS aside from liver transplantation. PMID:24679503
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933
Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul
We present a 34-year-old man with a two-year history of aphthous stomatitis, who later developed painful, erythematous nodules on his lower extremities. A pathergy test was positive, and the diagnosis of Behçet syndrome (BS) was made. It is important for the dermatologist to recognize the wide variety of cutaneous manifestations of this disorder. A pathergy test is a simple diagnostic tool that may assist in making a diagnosis. Case reports of other unusual skin manifestations in BS also are reviewed. PMID:21163169
Autoantibodies to eight of the aminoacyl-transfer RNA synthetases—the most well-recognized of which is anti-histidyl (Jo-1)—have\\u000a all been implicated in the pathogenesis of antisynthetase syndrome (AS). AS is characterized by varying degrees of interstitial\\u000a lung disease, myositis, arthropathy, fever, Raynaud’s phenomenon, and mechanic’s hands, and the morbidity and mortality of\\u000a the disease are usually linked to the pulmonary findings. The value
Elena Katzap; Maria-Louise Barilla-LaBarca; Galina Marder
Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine.
Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479
Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1. A small part of the gene ... to affect them more severely. You can have fragile X syndrome even if your parents do not have it. ...
NINDS Stiff-Person Syndrome Information Page Table of Contents (click to jump to sections) What is Stiff-Person Syndrome? Is there ... being done? Clinical Trials Organizations What is Stiff-Person Syndrome? Stiff-person syndrome (SPS) is a rare ...
NINDS Restless Legs Syndrome Information Page Condensed from Restless Legs Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Restless Legs Syndrome? Restless legs syndrome (RLS) is a neurological disorder ...
Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene,
The basic features of Goldenhar syndrome are preauricular appendices, epibulbar dermoids, vertebral and cardiac anomalies, and hypoplasia of the lungs. The syndrome appears to be caused by early damage during the first or second month of embryonic development. Prognosis is most often determined by the underlying heart disease. In the present study a 24-year-old female student is reported who exhibited a preauricular appendix on the right side, severe thoracic scoliosis, aplasia of the middle and lower lobes of the right lung, dextropositio cordis and an atrial septal defect with severe pulmonary hypertension. Cineangiocardiography revealed a mitral valve prolapse with slight mitral regurgitation and a dilated right ventricle with severe tricuspid regurgitation. Left and right ventricular function was slightly to moderately reduced. Selective coronary arteriography revealed a coronary fistula from an atrial branch of the left coronary artery to the right atrium. Symptomatic therapy with digitalis, anticoagulation and repeated venesection was initiated because of the severe hemodynamic findings. However, the patient developed syncope at increasingly frequent intervals and died 3 months after the initial examination. PMID:760185
Hess, O M; Steurer, J; Goebel, N H; Kuhlmann, U; Krayenbühl, H P
Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis is necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and juvenile polyposis will be presented in this review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable.
Sarkozy, Anna; Digilio, Maria Cristina; Dallapiccola, Bruno
Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a truncating mutation. We discuss the clinical aspects with special emphasis on the behavioral phenotype and we review current perspectives in clinical management alongside with perspectives in altering gene expression.
Behcet's syndrome (BS) is characterized by recurrent episodes of inflammatory manifestations, including oral and genital aphtosis, skin lesions, ocular attacks, arthritis, central nervous system and vascular manifestations (venous and arterial compartments). BS is more common in populations living in the ancient "silk road" from eastern Europe all the way to Japan. Several evidence suggest that both genetic and environmental factors are involved the pathogenesis. The association with the antigen HLA-B51 is observed with a highest frequency among patients of Middle Eastem countries and Japan. The diagnosis of BS is primarily established on clinical grounds in the absence of specific biological marker. The treatment is tailored according to the severity of clinical manifestations. The prognosis is more severe in young men. PMID:18472734
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states. These two genes are likely to be involved both in monogenic recessive and digenic/oligogenic KS transmission modes. Notably, mutations in any of the above-mentioned KS genes have been found in less than 30% of the KS patients, which indicates that other genes involved in the disease remain to be discovered.
Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems and deafness. We identified SMAD4 as the gene responsible for MS. The identification of SMAD4 mutations in Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature (LAPS) cases supports that LAPS and MS are a unique entity. The long-term follow up of patients shows that these conditions are progressive with life threatening complications. All mutations are de novo and changing in the majority of cases Ile500, located in the MH2 domain involved in transcriptional activation. We further showed an impairment of the transcriptional regulation via TGF? target genes in patient fibroblasts. Finally, the absence of SMAD4 mutations in three MS cases may support genetic heterogeneity. PMID:24580733
An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5–15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case–control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy.
Sejvar, James J.; Riek, Lul; Vandemaele, Katelijn A.H.; Lamunu, Margaret; Kuesel, Annette C.; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B.; Winkler, Andrea S.; Mbonye, Anthony K.
In Japan one of the major reasons the elderly need nursing care is disorders of the locomotive organs, which can make it difficult for a person to walk. People aged 65 and over now account for 23% of the population and by 2055 this figure will reach 41%. This situation will have great impact on the country's social systems. Japanese Orthopaedic Association (JOA) has coined the term "locomotive syndrome" to bring attention to the importance of locomotive organs. JOA developed a simple questionnaire to self-assess an individual's locomotive ability and easily practicable home exercises involving standing on one leg and half-squatting. This new concept has stimulated the awareness of society and shown ways to avoid possible disorders later in life. PMID:21774379
An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results. Nodding episodes are atonic seizures. Testing has failed to demonstrate associations with trypanosomiasis, cysticercosis, loiasis, lymphatic filariasis, cerebral malaria, measles, prion disease, or novel pathogens; or deficiencies of folate, cobalamin, pyridoxine, retinol, or zinc; or toxicity from mercury, copper, or homocysteine. There is a consistent enigmatic association with onchocerciasis detected by skin snip or serologic analysis. Nodding syndrome is an unexplained epidemic epilepsy. PMID:23965548
Dowell, Scott F; Sejvar, James J; Riek, Lul; Vandemaele, Katelijn A H; Lamunu, Margaret; Kuesel, Annette C; Schmutzhard, Erich; Matuja, William; Bunga, Sudhir; Foltz, Jennifer; Nutman, Thomas B; Winkler, Andrea S; Mbonye, Anthony K
Ulnar neuropathy at or distal to the wrist, the so-called ulnar tunnel syndrome, is an uncommon but well-described condition. However, diagnosis of ulnar tunnel syndrome can be difficult. Paresthesias may be nonspecific or related to coexisting pathologies, such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, C8-T1 radiculopathy, or peripheral neuropathy, which makes accurate diagnosis challenging. The advances in electrodiagnosis, ultrasonography, computed tomography, and magnetic resonance imaging have improved the diagnostic accuracy. This article offers an updated view of ulnar tunnel syndrome as well as its etiologies, diagnoses, and treatments. PMID:24559635
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.
Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. PMID:23622177
Boerhaave's syndrome or spontaneous oesophageal perforation, is a potentially lethal and frequently elusive medical condition which presents not only a diagnostic but also a therapeutic challenge. It is insufficiently considered in diagnostic hypotheses, yet may be confirmed or excluded by simple methods such as an erect chest film and a contrast study of the oesophagus. Errors in diagnosis are usually caused by unawareness of its varied and atypical presentations or failure to consider its possibility in acute cardiothoracic and upper gastrointestinal conditions. Early aggressive surgical intervention in the form of open and wide mediastinal and chest drainage, with or without oesophageal repair, resection or exclusion, offers the patient the best chance of survival against this otherwise invariably fatal event. Nonoperative therapy consisting of antibiotics, nil oral regimen, nasogastric tube suction, pleural drainage, H2 receptor blockers and either a feeding enterostomy or total parenteral nutrition, may also be appropriate in selected patients. It is probable that the condition is more common than is generally supposed. All clinicians need to be aware of this lethal disease, its frequently unusual presentations and the importance of early diagnosis. Images Figure 1 Figure 2
Hepatorenal syndrome (HRS) is a unique form of acute renal failure occurring in patients with advanced cirrhosis or acute liver failure. In patients with ascites the incidence of HRS is 8 % and in end-stage liver disease 75 % of patients suffer from HRS. Vasodilation of splanchnic arteries with subsequent decrease of effective blood volume, arterial pressure and renal vasoconstriction is hypothesized to be the central pathophysiological mechanism leading to acute renal failure. Moreover, cardiac output might be decreased in advanced cirrhosis. There are two types of HRS: while HRS type 1 is characterized by a rapid progression to acute renal failure often triggered by a precipitating event, e. g. bacterial peritonitis, which can rapidly develop into multiorgan failure, HRS type 2 shows a more steadily or slowly progressive course to renal failure with increasing ascites. Type 1 HRS has the worst prognosis. Treatment options include pharmacological treatment with vasoconstrictors and albumin and placement of transjugular intrahepatic portosystemic shunts (TIPS) but can only partially improve the survival rate. Liver transplantation is the ultimate and only definitive treatment of patients with HRS. PMID:23846211
The glucagonoma syndrome is characterized by a necrolytic migratory erythematous rash, angular stomatitis, painful glossitis, a normochromic normocytic anemia, mild diabetes mellitus, weight loss, a tendency to thrombosis, and neuropsychiatric disturbances. The diagnosis is made by finding a high plasma glucagon concentration in the absence of any other cause, such as renal failure or severe stress. A pancreatic alpha-cell tumor can be identified and stained by immunocytochemistry with glucagon antibodies. Optimal treatment is surgical removal, but approximately 50 percent of the tumors have metastasized by the time of diagnosis. Since the tumor is slow-growing, remission can be obtained by hepatic artery embolization to shrink hepatic secondaries or by shrinkage, in about 10 percent of patients, with the combination chemotherapeutic regimen of 5-fluorouracil and streptozotocin. The rash frequently responds to administration of zinc, a high-protein diet, and control of the diabetes with insulin. Alongside the alpha cell in the islets of Langerhans is the D-cell, which produces somatostatin and may well act physiologically as a paracrine inhibitor of glucagon release. A newly developed, long-acting somatostatin analogue, SMS 201-995, which the patient can self-administer as a subcutaneous injection, has proven effective in suppressing glucagon secretion from glucagonomas and, in some cases, causing remission of clinical symptoms. PMID:2884877
... NIH Patient Recruitment for Coffin Lowry Syndrome Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Coffin-Lowry Syndrome Foundation 675 ...
... page: About CDC.gov . Birth Defects National Center Homepage Share Compartir Facts about Down Syndrome Down syndrome ... 888) 232-6348 Contact CDC-INFO Birth Defects Homepage Facts Diagnosis Preventing Birth Defects Specific Birth Defects ...
... for Spanish speakers, including About Down Syndrome, Healthcare, Early Intervention, Therapies & Development, Education and more! Read More » My ... thinking about people with Down syndrome. Read More » Early Intervention The first years of life are a critical ...
... tunnel syndrome, a painful progressive condition caused by compression of a key nerve in the wrist. What ... body's nerves and make them more susceptible to compression are also at high risk. Carpal tunnel syndrome ...
... or an infection. However, most cases of immune restoration syndrome go away with continued HIV treatment. What’s ... is in the name of the syndrome: immune restoration. It is a sign that the immune system ...
Expert-reviewed information summary about common conditions that produce chest symptoms. The cardiopulmonary syndromes addressed in this summary are cancer-related dyspnea, malignant pleural effusion, pericardial effusion, and superior vena cava syndrome.
... Resources » Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, ... traits. Does That Mean That Your Child Has ADHD? It may, but more often it means that ...
Resources - chronic fatigue syndrome; CFS resources ... The following organizations provide information on chronic fatigue syndrome : CFIDS Association of America - www.cfids.org U.S. Centers for Disease Control and Prevention - www.cdc.gov/cfs
CFS; Fatigue - chronic; Immune dysfunction syndrome; Myalgic encephalomyelitis (ME) ... The exact cause of chronic fatigue syndrome (CFS) is unknown. Some theories suggest CFS may be due to: Epstein-Barr virus or human herpes virus-6 (HHV- ...
Irritable bowel syndrome (IBS) may be a lifelong condition. You may be suffering from cramping and loose stools, diarrhea, ... Irritable bowel syndrome . NIH Publication No. 12-693. July 2012. ... Digestive Diseases Information Clearinghouse (NDDIC). Talley NJ. ...
Thoracic outlet syndrome is a rare condition that involves pain in the neck and shoulder, numbness and tingling of ... with the nerves cause almost all cases of thoracic outlet syndrome. Pressure may happen if you have: An extra ...
... of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome ... Turner syndrome, including kidney problems , high blood pressure , heart problems, overweight, hearing difficulties, diabetes , and thyroid problems . ...
Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is most commonly associated with lung disorders, and ...
Fragile X syndrome [fra (X)] is currently accepted as the second most frequent chromosomal disorder associated with developmental disability. Although next to Down syndrome in frequency, no postmortem studies of confirmed adult cases had been reported.
R. D. Rudelli; W. T. Brown; K. Wisniewski; E. C. Jenkins; M. Laure-Kamionowska; F. Connell; H. M. Wisniewski
... FAQs NICHD Research Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: Page Content Down syndrome is caused by a random error in cell division that results in the presence ...
A case of postpneumonectomy syndrome in a 50 years old patient, operated for right sided bronchiectasis 40 years ago, is presented. The clinical course and radiological features of the syndrome are described. PMID:16536007
Carpal tunnel syndrome is a condition in which there is excessive pressure on the median nerve. This is ... feeling and movement to parts of the hand. Carpal tunnel syndrome can lead to numbness, tingling, weakness, or ...
... Favorite Name: Category: Share: Yes No, Keep Private Green Nail Syndrome Share | Green nail syndrome (GNS) is an infection of the ... discoloration of nails, also known as chloronychia. The green discoloration varies from blue-green to dark green ...
... to minimize or prevent these symptoms. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a fairly common ... spite of it. What Are the Symptoms of IBS? All kids have an occasional stomachache, and most ...
Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the ... Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). ...
... Lennox-Gastaut syndrome is a severe form of epilepsy. Seizures usually begin before 4 years of age. ... broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed ...
... myelodysplastic syndromes? Previous Topic What are myelodysplastic syndromes? Next Topic What are the key statistics about myelodysplastic ... be more helpful than the FAB classification in predicting prognosis (outlook). The WHO system recognizes 7 types ...
Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The ... Cri du chat syndrome is rare. It is caused by a problem with chromosome 5. Most cases are believed to ...
... PMID 16378774 . [top] Mayo Clinic. (n.d.). Case detection of Cushing’s syndrome in adults . Retrieved April 8, ... linked to severe form of Cushing’s syndrome Two copies of mutant gene may trigger rare adrenal disorder ...
Miller Fisher's syndrome is a rare variant of Guillain-Barré's syndrome characterized by the acute development of ataxia, ophthalmoparesis, and areflexia. Most patients have a measureable antibody in serum directed against the GQ1b ganglioside. This antibody is also present in the serum of patients with other forms of Guillain-Barré's syndrome who have prominent ataxia or ophthalmoplegia as part of their clinical presentation. Miller Fisher's syndrome generally is self-limited and has an excellent prognosis. PMID:23677659
Based on a review of the indexed medical literature (PubMed database), the authors describe the clinical features leading to the diagnosis of first bite syndrome, the pathophysiology of this syndrome and analyse the various treatment options available to otorhinolaryngologists to manage this syndrome. PMID:23890788
Laccourreye, O; Werner, A; Garcia, D; Malinvaud, D; Tran Ba Huy, P; Bonfils, P
Background. Turner's syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turner's syndrome in the past, including one case only of proven iridocyclitis. Methods. In this study we report the clinical findings of three females with Turner's syndrome and uveitis
Massimo Accorinti; Maurizio La Cava; Stefania Speranza; Paola Pivetti-Pezzi
Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in
... 220-5446 Carpal Tunnel Syndrome Q: What is carpal tunnel syndrome (CTS)? A: Carpal tunnel syndrome (CTS) is the name for a group ... small bones that form a narrow groove or carpal tunnel. Tendons and a nerve called the median nerve ...
... page from the NHLBI on Twitter. What Is Restless Legs Syndrome? Restless legs syndrome (RLS) is a disorder that causes a strong ... and to find better treatments. Rate This Content: Restless Legs Syndrome Clinical Trials Clinical trials are research studies that ...
Several factitious epileptic syndromes have been associated with famous literary characters. While these syndromes include symptoms other than pseudoseizures, and while pseudoseizures can occur in other syndromes, a review of these disorders provides insights into factitious seizures and epilepsy. PMID:12766697
Several tunnel syndromes are responsible for substantial functional impairment. The diagnosis has to be made and treatment is most often very simple--nerve decompression--with excellent results. Of these syndromes, the most common are median and ulnar tunnel syndromes of the wrist and ulnar tunnel syndrome of the elbow, but other syndromes must be identified at the risk of therapy failure due to poorly adapted treatment. Finally, good knowledge of this pathology must lead to prevention of the iatrogenic forms (sequelae of inguinal hernia treatment, ileac crest graft harvesting) by educating all surgeons interested in peripheral nerve surgery. PMID:19800087
Lapierre, F; Buffenoir, K; Giot, J-P; Delmotte, A; Rigoard, P
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.
Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. PMID:23201368
Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome. PMID:18314279
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical), compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and recurrent male miscarriage and stillbirth. Cardiolipin testing and TAZ sequencing now provide relatively rapid diagnostic testing, both prospectively and retrospectively, from a range of fresh or stored tissues, blood or neonatal bloodspots. TAZ sequencing also allows female carrier detection and antenatal screening. Management of BTHS includes medical therapy of CM, cardiac transplantation (in 14% of patients), antibiotic prophylaxis and granulocyte colony-stimulating factor (G-CSF) therapy. Multidisciplinary teams/clinics are essential for minimising hospital attendances and allowing many more individuals with BTHS to live into adulthood. PMID:23398819
Clarke, Sarah L N; Bowron, Ann; Gonzalez, Iris L; Groves, Sarah J; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M; McCurdy, Katherine R; Damin, Michaela K; Spencer, Carolyn T; Toth, Matthew J; Kelley, Richard I; Steward, Colin G
Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).? inhibitors, among others. In this article, we review the salient clinical studies for each drug class along with important side effects as well as drug toxicity monitoring. Management of the patient with BS is complex and oftentimes requires a multidisciplinary approach. We discuss strategies to assess and stratify patients based on clinical manifestations and disease severity. A summary of drug toxicities as they relate to the aforementioned pharmacological agents, as well as guidelines regarding vaccinations in this patient population, are offered. Finally, we conclude with treatment strategies for the common manifestations of BS along with a discussion of the management of thrombotic disease in these patients. PMID:23153327
Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome. PMID:23625684
Schultze-Florey, R E; Graf, N; Vorwerk, P; Koscielniak, E; Schneider, D T; Kratz, C P
Susac's syndrome is a microangiopathic disorder of unknown pathogenesis presenting with encephalopathy, hearing loss and branch retinal artery occlusions. The term 'catastrophic' antiphospholipid syndrome (APS) is used to define a subset of the APS characterized by thrombotic microangiopathy with clinical evidence of three or more organ involvement developed in a short period of time. We describe a patient with typical features of Susac's syndrome, that appeared in less than a week, in whom aPL were detected, thus fulfilling criteria for 'probable' catastrophic APS. PMID:15462492
Bucciarelli, S; Cervera, R; Martínez, M; Latorre, X; Font, J
Renal vein compression syndromes are rare causes of hematuria and can be divided into anterior and posterior nutcracker syndrome. When the left renal vein is compressed between the aorta and the superior mesenteric artery it causes anterior nutcracker syndrome. The posterior nutcracker syndrome is very rare and is considered when the left renal vein is compressed between the aorta and vertebral column. Symptoms of nutcracker syndromes may include intermittent left flank pain associated with hematuria, proteinuria, and sometimes with symptoms of pelvic congestion. Diagnosis is often difficult and plan for treatment is always challenging and requires careful evaluation of the patient's history and workup findings. We present a rare case report of a posterior nutcracker syndrome diagnosed in a young lady with long-standing symptoms that required surgical intervention. PMID:21890560
Sjögren's syndrome is a chronic autoimmune disease that is commonly manifested by immune attack on the exocrine glands with resultant dry eyes and dry mouth. Sjögren's syndrome patients also have disease in other organs. One of the most common extraglandular manifestations is vasculitis. Skin vasculitis, with palpable purpura clinically and leukocytoclastic vasculitis on pathological examination, is common. Although half of those individuals with subcutaneous vasculitis have only a single episode, skin vasculitic involvement is associated with more severe disease. Necrotizing vasculitis of medium-sized vessels resembling polyarteritis nodosa can occur in Sjögren's syndrome patients. Experience in therapy for vasculitis is limited, but intravenous IgG may be effective. Recent data support a relationship between neuromyelitis optica (Devic disease) and Sjögren's syndrome. Sjögren's syndrome patients with optic neuritis or transverse myelitis have anti-aquaporin-4, which are characteristic of Devic disease. Devic disease patients have salivary lymphocytic infiltration similar to that found among Sjögren's syndrome patients. PMID:21870104
Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation.
... called Klinefelter syndrome. Read more about Klinefelter syndrome . Where can I find information about diagnosis or management ... genetics professional in my area? in the Handbook. Where can I find additional information about Aicardi syndrome? ...
... Toddlers & Young Children Speech & Language Therapy for Children & Adolescents with Down Syndrome Toilet Training Children with Down Syndrome Wellness Nutrition Healthy Eating Habits in Children with Down Syndrome Weight Management for ...
... overlap with those of a similar condition called Crouzon syndrome. Common features include premature fusion of the ... nose; and an underdeveloped upper jaw. People with Crouzon syndrome or Crouzonodermoskeletal syndrome are usually of normal ...
... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Crouzon syndrome On this page: Description ... What is Crouzon syndrome? Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull ...
... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Pfeiffer syndrome On this page: Description ... What is Pfeiffer syndrome? Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull ...
... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Apert syndrome On this page: Description ... What is Apert syndrome? Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull ...
... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Larsen syndrome On this page: Description Genetic changes Inheritance ... names Glossary definitions Reviewed September 2011 What is Larsen syndrome? Larsen syndrome is a disorder that affects ...
... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Kallmann syndrome On this page: Description Genetic changes Inheritance Diagnosis ... names Glossary definitions Reviewed August 2008 What is Kallmann syndrome? Kallmann syndrome is a condition characterized by delayed ...
Treatment of pain of urogenital origin, chronic pelvic pain syndrome, can be frustrating for patients and physicians. The\\u000a usual approaches do not always produce the desired results. Visceral pain from pelvic organs and myofascial pain from muscle\\u000a trigger points share common characteristics. Referred pain from myofascial trigger points can mimic visceral pain syndromes\\u000a and visceral pain syndromes can induce trigger
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.???Keywords: Townes-Brocks syndrome; chromosome 16q12.1; SALL1
Opinion statement The clinical presentation of thoracic outlet syndrome depends on which anatomic structure is compressed in the area of the\\u000a thoracic outlet (eg, the axillary-subclavian artery, vein [Paget-Schroetter syndrome, or effort thrombosis], brachial plexus,\\u000a or the sympathetic nerves). The clinical syndrome may be isolated to one or a mixture of these compressed anatomic structures.\\u000a Although there are multiple compressive forces,
Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital tunnel syndrome was reviewed, and key papers on upper limb and hand surgery were discussed with colleagues.
There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including\\u000a the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica\\u000a congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new\\u000a genetic mutations such as RASA-1. There have also
The glucagonoma syndrome is characterized by necrolytic migratory erythema, glossitis, ungual dystrophy, diabetes mellitus, anemia, weight loss, elevated plasma glucagon levels and an alpha-cell glucagon-secreting neoplasm of the pancreas. We are reporting a case of this syndrome in a middle-aged woman, in whom the first complaints and signs were cutaneous. The recognition of the distinctive skin manifestations of the syndrome led to early diagnosis and treatment of the underlying malignant pancreatic tumor. PMID:204668
The case of a 5 months old infant with a nephrotic syndrome after neonatal cytomegalovirus infection is reported. Genomic amplification nested-PCR for CMV was positive in renal biopsy. Treatment with gancyclovir was effective to maintain nephrotic syndrome remission. We stresses the importance to discharge an infections cause of the nephrotic syndrome of newborns and infants due to the possibility on curative treatment. PMID:14658172
Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626
Upper Airway Resistance Syndrome (UARS) is characterized with daytime sleepiness and cardiovascular disturbances, because of the repetitive increase of upper airway resistance leading to arousals. UARS, can easily be overlooked because the conventional polysonographic measurements are not sensitive enough to diagnose this syndrome, therefore the prevalence and morbidity of this syndrome is not known. Measuring the increased inspiratory effort by an esophageal balloon during the rising upper airway resistance is the gold standard technique for the diagnosis. Treatment of UARS is similar with Obstructive Sleep Apnea Syndrome (OSAS). In this article the clinical picture, diagnosis, and management of the UARS is reviewed. PMID:15143431
Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective.
Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.
Study Objective: Gamma-hydroxybutyrate (GHB) withdrawal syndrome is increasingly encountered in emergency departments among patients presenting for health care after discontinuing frequent GHB use. This report describes the characteristics, course, and symptoms of this syndrome. Methods: A retrospective review of poison center records identified 7 consecutive cases in which patients reporting excessive GHB use were admitted for symptoms consistent with a
Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…
Cubital tunnel syndrome is the second most common peripheral nerve entrapment syndrome in the human body. It is the cause of considerable pain and disability for patients. When appropriately diagnosed, this condition may be treated by both conservative and operative means. In this review, the current thinking on this important and common condition is discussed The recent literature on cubital
Chylothorax results from various causes, such as malignancy, trauma, or infection. POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is a multisystemic syndrome that is associated with plasma cell disorder. Pleural effusion is a common manifestation of POEMS syndrome, but the association of POEMS syndrome with chylothorax has not been reported. We report on a 61-year-old female patient who initially presented with dyspnea and bilateral leg edema. Importantly, the patient had normal renal function. Her chest X-ray and computed tomographic imaging showed bilateral pleural effusion, and her chest drainage revealed chylothorax. Detailed examination failed to reveal the definitive cause of the chylothorax. She received several treatments for chylothorax, namely, a low-fat diet or fasting, total parenteral nutrition, a somatostatin analog (octreotide), thoracic duct ligation by video-assisted thoracic surgery, and pleurodesis. However, further examination revealed endocrinopathy, monoclonal plasma cell disorder, peripheral neuropathy, and elevation of the serum level of vascular endothelial growth factor. The patient's condition was consequently diagnosed as POEMS syndrome. Eventually, her chylothorax was controlled by pleurodesis, and she was transferred to another hospital for stem cell transplantation. Herein, we report on the apparent first case of POEMS syndrome with chylothorax. In some cases of idiopathic chylothorax, the underlying primary disease may be latent, such as in the present patient. POEMS syndrome is rare, but this syndrome should be included in the differential diagnosis of chylothorax with unexplained etiology. PMID:24477187
Fetal Valproate Syndrome results from prenatal exposure to valproic acid. It is characterized by distinctive facial appearance,\\u000a a cluster of minor and major anomalies and central nervous system dysfunction. Here we report a 4-year-old boy with typical\\u000a facial features of Fetal Valproate Syndrome.
M. L. Kulkarni; M. Zaheeruddin; Nivedita Shenoy; H. N. Vani
The prevalence of Asperger Syndrome appears to be increasing, yet many individuals are still not being diagnosed during their school years. It is imperative to disseminate knowledge regarding the characteristics of Asperger Syndrome to parents and educational, mental health, and medical professionals so that this condition can be recognized early, and appropriate interventions can be provided to assist individuals with
The Couvade syndrome describes the various physical symptoms found in expectant fathers. In this descriptive study, we have attempted to determine the extent to which this syndrome occurs among expectant fathers in Quebec, identify certain risk factors, and observe the repercussions of pregnancy on the social and family behaviour of the expectant father, as well as on the use of health care services.
The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…
Shaken Baby Syndrome is a serious form of child abuse, involving infants under the age of six months. Deliberately shaking an infant is often associated with frustration or anger, particularly when an infant will not stop crying. The shaking results in numerous initial and long-term consequences for the developing infant. In its most severe form Shaken Baby Syndrome results in
BackgroundNarcotic bowel syndrome is characterized by chronic or recurrent abdominal pain associated with escalating doses of narcotic pain medications. It may occur in as many as 4% of all patients taking opiates, and yet few physicians are aware that the syndrome exists.
Familial glucocorticoid deficiency (FGD) and triple A syndrome belong to a rare group of autosomal recessive disorders characterized by adrenocorticotropin (ACTH) insensitivity. Unlike triple A syndrome which presents a range of clinical features, FGD is solely characterized by glucocorticoid deficiency. ACTH regulates steroid biosynthesis in the adrenal cortex by exerting its effects via the ACTH receptor (melanocortin- 2 receptor, MC2R).
S. Cooray; L. Chan; L. Metherell; H. Storr; A. Clark
Two sibs with early onset diabetes and epiphysed dysplasia (Wolcott-Rallison syndrome) are described. The epiphyseal changes were radiologically apparent at 6 months of age in one of them, and both developed insulin dependent diabetes in the first few weeks of life. The clinical and radiological features of this syndrome are reviewed. PMID:7551159
The metabolic syndrome is composed of cardiovascular risk factors including increased body mass index/waist circumference, blood pressure, plasma glucose, and triglycerides, as well as decreased high-density lipoprotein cholesterol. The essence of the metabolic syndrome lies in the clustering of these risk factors, which are associated with cardiovascular disease. Interestingly, most of the components of the metabolic syndrome have individually been linked in some way to the development of cancer. However, epidemiological studies linking the metabolic syndrome to cancer are scarce. Nevertheless, two such studies indicate that the clustering of metabolic syndrome components significantly increases the risk of colon cancer mortality compared with the individual components. The purpose of this review is to further explore the potential relationship between the metabolic syndrome and cancer risk. Specifically, we examine the hypothesis that individual components of the metabolic syndrome contribute to the development of several processes, including insulin resistance, aromatase activity, adipokine production, angiogenesis, glucose utilization, and oxidative stress/DNA damage, which can work together to increase cancer risk beyond that of the individual components alone. We propose that the metabolic syndrome be considered as a high-risk state for certain types of cancer and that this relationship should be systematically explored across cancer types.
An acute overdose of rifampicin in an 18 month old white infant is described. The characteristic signs of the syndrome: orange-red discolouration of the skin, urine, and tears, facial pruritus, and periorbital oedema were present and the outcome was uneventful. Paediatricians should be aware of this peculiar yet easily identifiable syndrome.
The metabolic syndrome is defined as a constellation of metabolic abnormalities, including glucose intolerance, obesity, dyslipidaemia, and hypertension. It is associated with an elevated risk for cardiovascular disease and type 2 diabetes. Over the past 20 years, a worldwide increase of the metabolic syndrome has taken place. In the USA, 21% to 39% of the general population suffer from metabolic syndrome; in Europe prevalence rates are lower. At the same time, depressive disorders, which are associated with a 1.5 to 2.5 fold risk for cardiovascular events, are increasing. The combination of metabolic syndrome and depression multiplies the risk for severe complications: Due to behavioural, physiological, genetic, and treatment-induced factors, depression stimulates the development of a metabolic syndrome. In reverse, the metabolic syndrome favours development and maintenance of the metabolic syndrome. Consequently, in patients suffering from metabolic syndrome and depression, both disorders must be treated simultaneously. The treatment plan includes weight reduction, physical activity, psychoeducation, family interventions, the patient's subjective explanatory and treatment models, cognitive techniques, and problem solving techniques. Weight, blood pressure, fastening glucose, haemoglobin A1c, and lipids must be controlled in order to monitor treatment progress. Additional drug treatment can be appropriate for hypertension, dyslipidaemia, hyperglycaemia, and depression. Under these conditions, sustained improvements of individual well-being, psychosocial risk-factors, functional limitations, glycemic control, hypertension, and obesity are possible. PMID:16941396
In recent years we have gained great insight into the molecular pathogenesis of the 5q- syndrome, the most distinct of all the myelodysplastic syndromes. It is now recognized that p53 activation, caused by haploinsufficiency for the ribosomal gene RPS14 (mapping to the commonly deleted region), is the probable cause of the erythroid defect in the 5q- syndrome. A mouse model of the human 5q- syndrome has been generated by large-scale deletion of the Cd74-Nid67 interval (containing Rps14) and the crossing of these '5q- mice' with p53-deficient mice ameliorated the erythroid progenitor defect. Recent evidence suggests that haploinsufficiency of the microRNA genes miR-145 and miR-146a may contribute to the thrombocytosis seen in the 5q- syndrome. Emerging data shows that p53 mutation may play a role in disease progression. PMID:22571696
Boultwood, Jacqueline; Pellagatti, Andrea; Wainscoat, James S
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.
Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929
Sjögren's syndrome is a chronic autoimmune disorder, characterized by lymphocytic infiltration and malfunction of the exocrine glands, resulting in dry mouth and eyes. The syndrome can present either alone (primary Sjögren's syndrome) or in the context of an underlying connective tissue disease (secondary Sjögren's syndrome). Systemic features, resulting from cutaneous, respiratory, renal, hepatic, neurologic, and vascular involvement, often occur. Two
Clio P Mavragani; Niki M Moutsopoulos; Haralampos M Moutsopoulos
Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…
Metabolic syndrome is associated with abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. Proposed criteria for identifying patients with metabolic syndrome have contributed greatly to preventive medicine, but the value of metabolic syndrome as a scientific concept remains controversial. The presence of metabolic syndrome alone cannot predict global cardiovascular disease
Coinciding with the increasing rates of cannabis abuse has been the recognition of a new clinical condition known as Cannabinoid Hyperemesis Syndrome. Cannabinoid Hyperemesis Syndrome is characterized by chronic cannabis use, cyclic episodes of nausea and vomiting, and frequent hot bathing. Cannabinoid Hyperemesis Syndrome occurs by an unknown mechanism. Despite the well-established anti-emetic properties of marijuana, there is increasing evidence of its paradoxical effects on the gastrointestinal tract and CNS. Tetrahydrocannabinol, cannabidiol, and cannabigerol are three cannabinoids found in the cannabis plant with opposing effects on the emesis response. The clinical course of Cannabinoid Hyperemesis Syndrome may be divided into three phases: prodromal, hyperemetic, and recovery phase. The hyperemetic phase usually ceases within 48 hours, and treatment involves supportive therapy with fluid resuscitation and anti-emetic medications. Patients often demonstrate the learned behavior of frequent hot bathing, which produces temporary cessation of nausea, vomiting, and abdominal pain. The broad differential diagnosis of nausea and vomiting often leads to delay in the diagnosis of Cannabinoid Hyperemesis Syndrome. Cyclic Vomiting Syndrome shares several similarities with CHS and the two conditions are often confused. Knowledge of the epidemiology, pathophysiology, and natural course of Cannabinoid Hyperemesis Syndrome is limited and requires further investigation.
Galli, Jonathan A.; Sawaya, Ronald Andari; Friedenberg, Frank K.
Withdrawal syndrome after discontinuing serotonin re-uptake inhibitors, especially paroxetine, is largely unknown to most physicians. Variable incidence has been reported. Our aim was to stress the main clinical features of this syndrome. Serotonin re-uptake inhibitor withdrawal syndrome generally begins within 24 to 48 hours after discontinuing the drug. Signs reach their maximum on day 5 and usually resolve within 2 to 3 weeks. Withdrawal syndrome is more common with short half-life drugs (paroxetine, fluvoxamine). The intensity of the clinical signs depends on the daily dose and how long the drug has been given. The main signs are dizziness, vertigo, headache, nausea, and flu-like symptoms as well as anxiety, confusion, irritability, excessive dreaming and insomnia. Risk factors usually stressed are poor treatment compliance, previous withdrawal syndrome with another drug, concomitant medication and alcohol consumption. The syndrome can be prevented by tapering off the dose and patient education. When a withdrawal syndrome is present, it is advisable to reintroduce the drug then withdraw gradually. PMID:10855379
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward?slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain?of?function mutations in four different genes BRAF, KRAS, mitogen?activated protein/extracellular signal?regulated kinase MEK1 and MEK2, all belonging to the same RAS–extracellular signal?regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP?2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.
Roberts, A; Allanson, J; Jadico, S K; Kavamura, M I; Noonan, J; Opitz, J M; Young, T; Neri, G
Velo-cardio-facial syndrome (VCFS) is the most common contiguous gene deletion syndrome in humans, caused by a microdeletion from chromosome 22 at the q11.2 locus. Moreover, it is one of the most common multiple anomaly syndromes associated with congenital heart disease and is certainly the most common syndrome causing conotruncal heart anomalies. The population prevalence of this syndrome is probably increasing
Objective: The aim of this study is to examine the data used by John Caffey in his description of the Whiplash Shaken Infant Syndrome and compare it with recent data in an attempt to determine whether the syndrome that he described has changed, or if we have changed his syndrome into what we now call The Shaken Infant Syndrome.Method: This
Compression of the ulnar nerve at the elbow, or cubital tunnel syndrome, is the second most common peripheral nerve compression syndrome in the upper extremity. Diagnosis is made through a good history and physical examination. Electrodiagnostic testing can confirm the diagnosis and severity of injury to the nerve. Surgical intervention is indicated when nonoperative treatment does not relieve the symptoms. There is currently no consensus on the best surgical treatment of cubital tunnel syndrome. However, the only randomized prospective studies to compare treatment options to date indicate that simple decompression and anterior transposition yield comparable results. PMID:23026463
Guillain-Barre syndrome is an acute, or more often, a subacutely evolving paralytic disease of unestablished etiology. The condition is often designated as the Landy-Guillain-Strohl syndrome in recognition of the description provided by Landy in 1859 and again in 1916 by Guillain, Barre and Strohl. The pathogenesis and specific therapy in this condition remains imperfectly defined. The diagnosis is usually clinical with supportive laboratory tests. In this syllabus, we review the diagnostic criteria in Guillain-Barre syndrome and current therapies in the acute management followed by presentation of the acute management protocol used in the Neurosciences Department at the Riyadh Armed Forces Hospital. PMID:24276598
The nutcracker syndrome, caused by compression of the left renal vein between the superior mesenteric artery and the aorta, usually manifests with hematuria, flank pain and proteinuria. We report on a 9-year-old boy who was previously diagnosed with urolithiasis but had significant proteinuria, not explained by this diagnosis. On further investigation by renal Doppler ultrasonography it was found that he had nutcracker syndrome. We would like to emphasize that this syndrome should be considered where there is no obvious cause of proteinuria and hematuria. PMID:20594917
Altugan, F Semsa; Ekim, Mesiha; Fitöz, Suat; Ozçakar, Z Birsin; Burgu, Berk; Yalç?nkaya, Fato?; Soygür, Tarkan
It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.
Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun
Self injury is the intentional and direct injury to self that include bite, burn, ulceration and head banging. These injuries are rarely fatal and are usually not suicidal in nature. This behavior is common among adolescents, psychiatric patients and in females. Bipolar disorder, drug abuse and metabolic syndromes like LeschNyhan and Munchausen's syndrome are often associated with this disorder. Repetitive self mutilation is termed the Van Gogh syndrome after the famous painter who cut off his ear and gave it to a prostitute. We describe two such cases of self mutilation in schizophrenic patients. PMID:22929720
\\u000a The post-concussion syndrome (a.k.a., post-concussive disorder and post concussional disorder) has been controversial for\\u000a decades. Without question, an acute post-concussion syndrome can be caused by the neurobiology of a mild traumatic brain injury (MTBI). Without question, a post-concussion\\u000a syndrome can be worsened by psychological distress, social psychological factors (e.g., the nocebo effect, iatrogenesis, and\\u000a misattributions), personality characteristics, and co-occurring conditions
Girls with Rett syndrome display signs of neuronal dysfunction including mental retardation, seizures, stereotyped movements, and abnormal breathing and autonomic control. Decelerating head growth during infancy might reflect a disorder in production or pruning of neuronal synapses or both. Recent immunocytochemical studies in rodent brain investigating development of MeCP2, the transcription factor mutated in Rett syndrome, suggest that expression is delayed until the time of synapse formation. These findings are consistent with other evidence that Rett syndrome disrupts genetic programs that establish and refine synaptic connections. PMID:14649550
Johnston, Michael V; Mullaney, Brendan; Blue, Mary E
Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity. PMID:15645989
Carpal tunnel syndrome (CTS) is a common median nerve compression syndrome and the most common peripheral mononeuropathy. The clinical syndrome is diagnosed by history and physical examination. Electrodiagnostic testing is the objective method used to measure median nerve dysfunction at the wrist and confirm the clinical diagnosis of CTS. Neuromuscular ultrasound imaging of the carpal tunnel provides supportive diagnostic information by revealing pathologic nerve swelling in CTS, and other anatomic anomalies that compress the median nerve. These tests cannot be used to make the diagnosis in the absence of history that includes CTS symptom criteria and excludes other causes. PMID:24787330
Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context. PMID:21779298
Objective: To report a case of Wells syndrome (eosinophilic cellulitis) in a patient who was previously hospitalized twice and received several antibiotic treatments. Setting: Inpatient hospital consultation. Participant: One patient diagnosed with Wells Syndrome based on supporting clinical history, histopathological examination, and other laboratory data. Measurement: Change in signs and symptoms over time. Results: Improvement of skin lesions after administration of corticosteroids. Conclusion: Wells syndrome is a clinical condition that mimics bacterial cellulitis. It is characterized as an erythematous, edematous tender plaque with predilection for the lower extremity. The authors report this case to warn clinicians about other primary dermatological disorders that resemble infectious cellulitis in order to avoid misdiagnoses and delayed treatment.
Anton's syndrome is arguably the most striking form of anosognosia. Patients with this syndrome behave as if they can see despite their obvious blindness. Although best known for his description of asomatognosia and visual anosognosia, Gabriel Anton (1858-1933) made other significant contributions to the clinical neurosciences, including pioneering work in neurosurgery, neuropsychology, and child psychiatry. However, it has not been recognized in the English literature that Anton was also a dedicated advocate of eugenics and racial hygiene. This paper provides a case of Anton's syndrome and puts the works of Gabriel Anton into their historic context.
Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.
Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle. PMID:16400436
The purple urine bag syndrome (PUBS) is a rare condition associated with chronic urinary catheterization. It is characterized by the purple discoloration of the urine, collecting bag, and tubing. A number of factors are involved, but not always present, in its development including female sex, urinary tract infection, constipation, indicanuria, and alkaline urine. Despite multiple theories that involve the complex tryptophan metabolism to the tubing dye, the cause remains elusive. The syndrome resolves usually after treatment of urinary tract infection or changing of the collecting bag. We present a case of a patient with purple urine bag syndrome and a pertinent literature review. PMID:16032624
Vallejo-Manzur, Federico; Mireles-Cabodevila, Eduardo; Varon, Joseph
... Overview Dyspnea and Coughing During Advanced Cancer Malignant Pleural Effusion Malignant Pericardial Effusion Superior Vena Cava Syndrome Superior ... in this summary: Dyspnea (shortness of breath). Malignant pleural effusion (extra fluid around the lungs). Malignant pericardial effusion ( ...
... September 2010 Back 1 ? 2 ? 3 ? 4 For Teens For Kids For Parents MORE ON THIS TOPIC Obsessive-Compulsive Disorder What Is ADHD? Your Child's Habits Obsessive-Compulsive Disorder Tourette Syndrome Obsessive-Compulsive Disorder ...
... 2009) Pediatric Psychopharmacology: Psychopharmacology of Tic Disorders Alternative Therapies National Institutes of Health Fact Sheet Tourette Syndrome Association TSA CBIT Video Related Pages Attention-Deficit/Hyperactivity Disorder (ADHD) Child Development Positive Parenting Tips CDC’s National ...
Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling and usually a happy demeanour. It is also called as Angelman syndrome (AS). People with AS are sometimes known as ‘angels’, both because of the syndrome’s name and because of their youthful, happy appearance. A 6.5-year-old girl is presented and clinical suspicion of AS was raised at the age of 4 years when she presented with mental retardation and epilepsy, absence of speech, inability to gait and unprovoked episodes of laughter. Fluorescent in situ hybridisation chromosomal analysis revealed micro deletion on the maternally derived allele of 15q chromosome.
We describe a patient with trichorhinophalangeal syndrome type I (TRPS-I) who had been previously diagnosed as having anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip, and a horizontal groove on the chin. There may be clinobrachydactyly with ulnar deviation and dystrophic nails. The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12. Patients with all variants of TRPS need prompt and accurate assessment because musculoskeletal dysplasia is a universal feature in this syndrome. We review TRPS and similar syndromes to assist the accurate diagnosis of these lifelong maladies. PMID:8034799
Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away ... do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months ...
Amniotic band syndrome is a well-described clinical entity, which includes several congenital deformities. Hand malformations and limb defects represent the most frequent clinical characteristics, gathering, with variable localization, constriction rings, acrosyndactylies and amniotic amputations. Other anomalies of skull, face, body wall and internal organs, sometimes complex and lethal, are significantly associated with this syndrome. The syndrome is then included in the larger entity of limb body wall complex (LBWC). Congenital ring constriction, amniotic band disruption complex, or congenital transverse defect are some of the numerous synonyms defining this malformative syndrome, showing either its clinical variability, or the uncertainties surrounding its etiology. Indeed, several pathogenic theories have been successively opposed, bringing about a certain degree of confusion. Recent experimental genetic studies could unify the different fetal malformations. The surgical treatment actually applies only to the aftereffects of the intrauterine phenomenon, until antenatal diagnosis followed by in utero surgery will be perfected. PMID:18948051
... likely to have polycystic ovary syndrome. Symptoms of PCOS include: Infertility Pelvic pain Excess hair growth on the face, chest, stomach, thumbs, or toes Baldness or thinning hair Acne, oily skin, or dandruff Patches of thickened dark ...
... gov] From the National Institute of Child Health & Human Development. Klinefelter Syndrome [nichd.nih.gov] From the National Institute of Child Health & Human Development. Karyotyping [nlm.nih.gov] From Medline Plus. Karyotype ...
... is a very rare inherited disorder in which bilirubin (a substance made by the liver) cannot be ... syndrome occurs when the enzyme that normally converts bilirubin into a form that can easily be removed ...
Thoracic outlet syndrome (TOS) causes pain in the arm, shoulder, and neck. It happens when the nerves or blood vessels just below your ... vein is compressed, your hand might be sensitive to cold, or turn pale or bluish. Your arm ...
... gums clean and help to minimize the inflammation. Cavities Some research says that people with Down syndrome ... of cavities. What Can I Do to Prevent Cavities and Gum Disease? Brush teeth twice daily with ...
... present at birth. The syndrome usually involves port wine stains , excess growth of bones and soft tissue, ... Many port wine stains or other blood vessel problems, including dark spots on the skin. Varicose veins (may be seen in ...
On the basis of the medical history of and clinical findings in a female patient with Groenblad-Strandberg syndrome, we discuss the clinical symptomatology, pathogenesis, hereditary behavior, differential diagnosis, and prognosis of this disease. PMID:2378156
We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband.
... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing ...
... syndrome results from a problem with the kidneys’ filters, called glomeruli. Glomeruli are tiny blood vessels in ... As blood passes through healthy kidneys, the glomeruli filter out the waste products and allow the blood ...
Hot dog headache; Glutamate-induced asthma; MSG (monosodium glutamate) syndrome ... Chest pain Flushing Headache Numbness or burning in or around the mouth Sense of facial pressure or swelling Sweating
Hallermann-Streiff syndrome (HSS) is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.
Thomas, Jayakar; Ragavi, B Sindhu; Raneesha, PK; Ahmed, N Ashwak; Cynthia, S; Manoharan, D; Manoharan, R
Paraneoplastic neurological syndromes (PNS) are uncommon and defined by an acute or subacute neurological syndrome associated with a cancer. These syndromes often antedate the diagnostis of the underlying neoplasia that is usually not clinically evident. An early diagnosis is the main condition for a better neurological and carcinologic outcome. Subacute cerebellar ataxia, subacute sensitive neuropathy, limbic encephalomyelitis, Lambert-Eaton myasthenic syndrome, opsoclonus myoclonus, dermatopolymyositis and intestinal pseudo-obstruction belong to the well-characterized PNS and their presence must lead to onconeuronal antibodies (ONA) detection. Treatment of the underlying neoplasia is the mainstay of treatment to obtain a better outcome. However, recent findings lead to consider immunological specific treatment according to the subtype of associated ONA. PNS associated with ONA targeting membrane antigens are thus usually responsive to immunomodulator therapies. Conversely, PNS associated with ONA targeting intracellular antigens are of poor outcome despite mild improvement under immunosuppressive therapies in some patients. PMID:21036427
... spinal cord are covered by fluid and a membrane. The membrane is made of connective tissue. When people with Marfan syndrome get older, the membrane may weaken and stretch. This affects the bones ...
... your teeth, talk to your dentist about treatment. Grinding can increase your risk of cracked tooth syndrome. ... a plastic bite piece) to prevent you from grinding your teeth. This will relieve the pain from ...
Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel ... go back and forth between the two. Although IBS can cause a great deal of discomfort, it ...
Abstract Since its first description by Reavan in 1988, accepted criteria for clinical identification of the components of metabolic syndrome have been promulgated by the National Cholesterol Education Program/Adult Treatment Panel III (NCEP/ATP III) and the World Health Organization (WHO) as well as the International Diabetes Federation (IDF), and the American Association of Clinical Endocrinologists (AACE). Insulin resistance is a common metabolic abnormality underlying type 2 diabetes mellitus and is also an independent risk factor for cardiovascular disease. Although ATP III identified cardiovascular disease (CVD) as the primary clinical outcome of the metabolic syndrome, we now have evidence that metabolic syndrome is associated with type 2 diabetes mellitus, polycystic ovarian disease, nonalcoholic fatty liver disease, and possibly some cancers. This review summarizes evidence in support of the relationship between metabolic syndrome and various cancers and possible underlying mechanisms and therapeutic interventions.
... their vagina and womb are totally normal. In early childhood, girls who have Turner syndrome may have frequent ... of the ovaries. Many girls are diagnosed in early childhood when a slow growth rate and other features ...
... the community. Home > Pregnancy > Pregnancy Complications > HELLP syndrome Pregnancy complications Pregnancy complications may need special medical care. ... to get pregnant again. Are gallstones common during pregnancy? Not common, but they do happen. Elevated hormones ...
... syndrome. Several physical characteristics may be noted at birth, which can alert a doctor to the possibility of TS and prompt him or her to order a karyotype. Results that indicate TS will reveal ...
Prune belly syndrome is a group of birth defects that involve three main problems: Poor development of ... of the belly area to wrinkle like a prune Undescended testicles (cryptorchidism) Urinary tract problems
... to make sure we have the most current contact and demographic data for individuals with Angelman syndrome and their families. Participate in the ASF Contact Registry today. Will You Help Us Find A ...
Discusses the history, epidemiology, biomechanics, diagnosis, treatment, outcomes, long-term management, and prevention of shaken baby syndrome. It presents medical-legal issues as well as a discussion of programs aimed at prevention of physical abuse. (Author/DB)
Cat-scratch disease; Oculoglandular syndrome ... or a parasite. The most common causes are cat-scratch disease and tularemia (rabbit fever). The bacteria that cause either condition can infect the eye. ...
... affected by these types of mutations can survive infancy. Males can also have a duplication of a ... allows most females with Rett syndrome to survive infancy. Because most boys have only one X chromosome, ...
... associated with a defect in chromosome number 11. Infancy can be a critical period because of low ... Children with Beckwith-Wiedemann syndrome who survive infancy do ... appears to be normal to very slightly decreased. Swelling of ...
The cone dystrophies comprise a heterogeneous group of disorders characterised by visual loss, abnormalities of colour vision, central scotomata, and a variable degree of nystagmus and photophobia. They may be stationary or progressive. The stationary cone dystrophies are better described as cone dysfunction syndromes since a dystrophy often describes a progressive process. These different syndromes encompass a wide range of clinical and psychophysical findings. The aim is to review current knowledge relating to the cone dysfunction syndromes, with discussion of the various phenotypes, the currently mapped genes, and genotype-phenotype relations. The cone dysfunction syndromes that will be discussed are complete and incomplete achromatopsia, oligocone trichromacy, cone monochromatism, blue cone monochromatism, and Bornholm eye disease. Disorders with a progressive cone dystrophy phenotype will not be discussed.
... during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until ... 800-999-NORD (6673) Fax: 203-798-2291 Spina Bifida Association 4590 MacArthur Blvd. NW Suite 250 Washington, ...
Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...
Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…
Antshel, K. M.; Stallone, K.; AbdulSabur, N.; Shprintzen, R.; Roizen, N.; Higgins, A. M.; Kates, W. R.
Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
A 32-year-old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum. PMID:9731970
Hyperglycemic hyperosmolar nonketotic syndrome (HHNS) was infrequently diagnosed till recently. Now it is being diagnosed\\u000a with increasing frequency in obese children with type 2 diabetes mellitus (T2 DM) and its incidence is likely to go up, given\\u000a global increase in incidence of childhood obesity, increased insulin resistance, and T2 DM. The syndrome is characterized\\u000a by severe hyperglycemia, a marked increase
Tobacco is a leading contributor to morbidity and mortality globally. Metabolic syndrome is a constellation of abdominal obesity, atherogenic dyslipidemia, raised blood pressure, insulin resistance (with and without glucose intolerance), pro-inflammatory state, and pro-thrombotic state. Tobacco use is associated with various core components of metabolic syndrome. It has been found to play a causal role in various pathways leading on to development this condition, the current article discusses various facets of this association.
Lemierre’s syndrome is characterized by an oropharyngeal infection followed by internal jugular vein septic thrombophlebitis\\u000a and metastatic emboli, most often to the lungs and joints. The syndrome is most commonly associated with the anaerobic gram-negative\\u000a rod Fusobacterium necrophorum. Diagnosis is established with evidence of metastatic infection and internal jugular vein thrombophlebitis. CT is considered\\u000a the diagnostic procedure of choice. Treatment
Adam W. Armstrong; Katherine Spooner; John W. Sanders
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis. The fragile X syndrome was one of the first examples
B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Guillain-Barré syndrome is an autoimmune disorder encompassing a heterogeneous group of pathological and clinical entities. Antecedent infections are thought to trigger an immune response, which subsequently cross reacts with nerves leading to demyelination or axonal degeneration. Both intravenous immunoglobulin treatment and plasma exchange have been found to be equally beneficial. Several factors are useful in predicting the outcome of these patients.???Keywords: Guillain-Barré syndrome
\\u000a The commonly used term sick sinus syndrome refers to a constellation of disorders of sinus rhythm that includes (1) inappropriate sinus bradycardia, (2) barious forms\\u000a of sinoatrial block, (3) sinus arrest, (4) tachycardia-bradycardia syndrome, (5) sinoatrial nodal suppression by ectopic beats,\\u000a and (6) sinoatrial reentry. This group of arrhythmias is very often associated with other manifestations of conduction system\\u000a disease,
Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, affecting less than 1\\/10,000 patients with cancer. Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. PNS can
Spontaneous Intracranial Hypotension is a rare syndrome, characterized by orthostatic headaches, low CSF pressure and characteristic aspects on MRI. The authors describe a clinical case of Spontaneous Intracranial Hypotension, in which the MRI investigation revealed a low position of the cerebellar tonsils, a diffuse and symmetric dural enhancement and an engorgement of the cervical epidural venous plexus. The authors make a review of the physiopathology, clinical and radiological aspects related to this syndrome. PMID:12868402
The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases. Images
Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.
Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital. PMID:21887009
A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cutis on the scalp. There was no systemic involvement. The patient was placed on regular follow-up. PMID:24906278
Iftikhar, Nadia; Ahmad Ghumman, Faisal Iftikhar; Janjua, Shahbaz A; Ejaz, Amer; Butt, Umar Aftab
Zusammenfassung Bei einer 35jährigen Patientin bestanden seit Jahren Neutropenie und Infektanfälligkeit. Die Diagnose eines „Lazy Leukocyte“Syndroms ergab sich aus folgenden Befunden: gestörte Neutrophilen-Chemotaxis; eingeschränkte ungerichtete Motilität und In-vivo-Migration; verminderte Granulozyten-Freisetzung aus dem Knochenmark bei EtiocholanolonReiz trotz normaler Knochenmarks-Zellularität. Klinische Befunde und pathophysiologische Aspekte der bisher mitgeteilten 5 Fälle dieses Syndroms werden besprochen.
Opinion statement Popliteal artery entrapment syndrome is a condition caused by direct compression of the popliteal artery as it passes within\\u000a or exits the popliteal fossa. It is surprisingly uncommon and usually affects young patients, typically men, and often presenting\\u000a with symptoms of claudication, or more rarely acute limb ischemia, calf cramps, or a picture of compartment syndrome. The\\u000a diagnosis should
Mark F. Henry; Denis C. Wilkins; Anthony W. Lambert
This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemophilus influenzae type B-infection-syndrome). This severe illness is successfully treated if recognized early enough. At present, chloramphenicol is the therapy of choice. Intubation or tracheotomy are important but supportive measures. PMID:988430
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner. The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs. Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.
Myelodysplastic syndromes are associated with a risk of severe infections. While neutropenia is likely to be the main predisposing factor, several other immune defects have been reported, including impaired neutrophil function, B-, T- and NK-cell defects and the possible consequences of iron overload due to red blood cell transfusions. The advanced age of most patients, their frequent comorbidities, and the fact that drugs such as hypomethylating agents and lenalidomide, which are effective in myelodysplastic syndromes but can transiently worsen neutropenia, may increase the risk of infection and their severity in this context. The majority of infections in myelodysplastic syndromes are bacterial, while the incidence of fungal infections is not well known and viral infections seem to be rare. No prophylactic measures against infections have demonstrated efficacy in myelodysplastic syndromes. However, pending more data, we propose here some recommendations for the management of patients with myelodysplastic syndromes. In the future, an important contribution can be made by prospective trials testing the efficacy of prophylactic and therapeutic approaches to infection in these patients, especially in the context of the new drugs available for myelodysplastic syndromes.
There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research. PMID:20582592
Restless Legs Syndrome - Causes & Symptoms Causes What causes of restless legs syndrome varies from person to person. In some cases ... with brain cell communication that can lead to restless legs syndrome. If you think you have restless legs syndrome ...
... Tools & Resources Stroke More Symptoms and Diagnosis of Metabolic Syndrome Updated:Mar 13,2014 What are the symptoms ... content was last reviewed on 07/11/2011. Metabolic Syndrome • Home • About Metabolic Syndrome • Why Metabolic Syndrome Matters • ...
A 17 year old male presented with seizures, headache, and fever and left chronic suppurative otitis media. A 35 year old male presented with headache, giddiness, vomiting, pain in eyes, diplopia and right chronic suppurative otitis media. Brain imaging in both revealed thrombosis of lateral and sigmoid sinus and also of internal jugular vein on the left and right side respectively. A diagnosis of Lemierre's syndrome was made in both. They were treated with antibiotics and anticoagulants, and they responded to treatment. We want to report this case as we feel, that with the advent of the antibiotic era, this syndrome has become rare; and so "quite forgotten" or overlooked, by many physicians. PMID:22799122
Antiphospholipid antibodies [such as anticardiolipin antibodies (ACLA)] are strongly associated with thrombosis and appear to be the most common of the acquired blood protein defects causing thrombosis. Although the precise mechanism(s) whereby antiphospholipid antibodies alter hemostasis to induce a hypercoagulable state remain unclear, several theories have been advanced. The most common thrombotic events associated with ACLA are deep vein thrombosis and pulmonary embolus (type I syndrome), coronary or peripheral artery thrombosis (type II syndrome) or cerebrovascular/retinal vessel thrombosis (type III syndrome), and occasionally patients present with mixtures (type IV syndrome). Type V patients are those with antiphospholipid antibodies and fetal wastage syndrome. It is as yet unclear how many seemingly normal individuals who may never develop manifestations of antiphospholipid syndrome (type VI) harbor asymptomatic antiphospholipid antibodies. The relative frequency of ACLA in association with arterial and venous thrombosis strongly suggests that these should be looked for in any individual with unexplained thrombosis; all three idiotypes (IgG, IgA, and IgM) should be assessed. Also, the type of syndrome (I through VI) should be defined, if possible, as this may dictate both type and duration of both immediate and long-term anticoagulant therapy. Unlike those with ACLA, patients with primary lupus anticoagulant thrombosis syndrome usually suffer venous thrombosis. Because the activated partial thromboplastin time (aPTT) is unreliable in patients with lupus anticoagulant (prolonged in only about 40 to 50% of patients) and is not usually prolonged in patients with anticardiolipin antibodies, definitive tests including ELISA for ACLA, the dRVVT for lupus anticoagulant, hexagonal phospholipid neutralization procedure, and B-2-GP-I (IgG, IgA, and IgM) should be immediately ordered when suspecting antiphospholipid syndrome or in individuals with otherwise unexplained thrombotic or thromboembolic events. If these are negative, in the appropriate clinical setting, subgroups should also be assessed. Finally, most patients with antiphospholipid thrombosis syndrome will fail warfarin therapy and, except for retinal vascular thrombosis, most will fail antiplatelet therapy, thus it is of major importance to make this diagnosis in order that patients can be treated with the most effective therapy for secondary prevention, low-molecular weight heparin (LMWH) or unfractionated heparin (UHF) in most instances. PMID:10443963
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling). Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome). Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser ablation, photodynamic therapy and topical chemotherapy. Radiotherapy should be avoided. Vitamin A analogs may play a preventive role against development of new BCCs. Life expectancy in NBCCS is not significantly altered but morbidity from complications can be substantial. Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure.
Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…
... and Families Resources for Health Professionals What glossary definitions help with understanding Gorlin syndrome? arrhythmia ; autosomal ; autosomal ... syndrome ; tumor ; tumor suppressor gene You may find definitions for these and many other terms in the ...
... 500 to 20,000 people. What are the genetic changes related to Williams syndrome? Williams syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... affected individuals have been reported. What are the genetic changes related to Jacobsen syndrome? Jacobsen syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... with those of other conditions. What are the genetic changes related to Klinefelter syndrome? Klinefelter syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... Jean region of Quebec, Canada. What are the genetic changes related to Leigh syndrome? Leigh syndrome can ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... other disorders with similar features. What are the genetic changes related to Kleefstra syndrome? Kleefstra syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ...
... en... Favorites Delicious Digg Google Bookmarks Disability and Chronic Fatigue Syndrome Some people with chronic fatigue syndrome (CFS) are ... SSA Policy for Evaluating Disability for Patients with CFS The SSA policy for evaluating patients with CFS, ...
... this condition have been reported. What are the genetic changes related to Emanuel syndrome? Emanuel syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... to term (miscarriages and stillbirths). What are the genetic changes related to Turner syndrome? Turner syndrome is ... Center . Where can I find general information about genetic conditions? The Handbook provides basic information about genetics ...
... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Troyer syndrome On this page: Description ... Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...
... test information (1 link) PubMed - Recent literature OMIM - Genetic disorder catalog What other names do people use for Myhre syndrome? facial dysmorphism-intellectual deficit-short stature-hearing loss LAPS syndrome laryngotracheal stenosis, ...
... to the National Institute of Child Health and Human Development (NICHD) family album about Fragile X syndrome. As ... syndrome? The National Institute of Child Health and Human Development (NICHD) National organizations Additional resources References and Acknowledgements ...
... NICHD Research Information Clinical Trials Resources and Publications Fragile X Syndrome: Other FAQs Skip sharing on social media links ... Are there specific disorders or conditions associated with Fragile X syndrome? Among the other conditions associated with Fragile X ...
... Information Clinical Trials Resources and Publications What causes Fragile X syndrome? Skip sharing on social media links Share this: ... with the mutated FMR1 gene has symptoms of Fragile X syndrome, because the body may still be able to ...
Numerous oral manifestations associated with salivary gland dysfunction, and particularly Sjögren's syndrome, have been reported in the literature. This article discusses the evidence on a wide range of oral manifestations associated with Sjögren's syndrome. PMID:24287193
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively. PMID:24637303
... is Aicardi-Goutieres Syndrome Disorder? Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants ... about 20 percent of all babies who have AGS. These infants are born with neurological and liver ...
... loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are ... it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of ...
... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.
... myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. Patients with a myelodysplastic syndrome who have ... in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of ...
... Chronic Fatigue Syndrome (CFS) Share Compartir Diagnosis Diagnostic Challenges For doctors, diagnosing chronic fatigue syndrome (CFS) can ... A Case-Based Approach Medscape Course on CFS - Challenges in Primary Care Cytokines and the Symptoms of ...
We propose a probabilistic methodology for deducing a syndrome or syndromes (possibly induced by chemical/biological agents) associated with a large number of people from certain geographic areas that have well-established diagnoses and symptoms. Here, us...
... associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder ... Alagille syndrome do not develop liver disease during infancy. What are the genetic changes related to Alagille ...
... also have other autoimmune disorders such as systemic lupus erythematosus. Rarely, people with antiphospholipid syndrome develop thromboses ... Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 ...
... and Families Resources for Health Professionals What glossary definitions help with understanding Lujan syndrome? amino acid ; autism ; ... syndrome ; tissue ; X-linked recessive You may find definitions for these and many other terms in the ...
We report 20 children admitted to the paediatric ward of a public general hospital for acute flaccid paralysis, which was bilaterally symmetrical in all cases and was associated with bulbar involvement in eight of them. Recovery was partial. Nerve conduction studies showed motor axonal neuropathy. This new disease, variously termed as non-inflammatory neuropathy/Chinese paralysis syndrome must be differentiated from Guillain-Barré syndrome (GBS) and poliomyelitis. Both GBS and Asian paralysis syndrome have bilaterally symmetrical flaccid paralysis but GBS tends to have sensory involvement, full recovery occurs in 90% of cases and nerve conduction shows demyelinating neuropathy. Asian paralysis syndrome and poliomyelitis are pure motor lesions without sensory changes and partial recovery, but poliomyelitis differs in that paralysis is asymmetrical and unequal, muscle spasm is always present in the initial stage and there are prodromal symptoms. Nerve conduction studies show anterior horn cell disease. This new entity, common in Asian populations, assumes public health importance when it mimics poliomyelitis in a country that has tried to eliminate poliomyelitis by universal immunization. To the best of our knowledge, this is the first report of Asian paralysis syndrome in children in our area. PMID:10716023
Phadke, M A; Gambhir, P S; Deshpande, A S; Kurlekar, S U; Godbole, K G
Tourette's syndrome is a widely misunderstood chronic disorder that develops in childhood and is usually lifelong. It is characterized by waxing and waning of involuntary motor and phonic tics. The features and differential diagnosis are discussed in this paper. The estimated prevalence rate of Tourette's syndrome, 0.05%, implies that this disorder is not rare. The reasons for diagnostic confusion are outlined, and the genetic and neurotransmitter features discussed. The management of Tourette's syndrome has become more effective with the availability of at least two psychoactive drugs, haloperidol and pimozide. Although the cause of this syndrome is thought to be organic, these drugs and their adverse effects are best known to psychiatrists. Psychiatric and multidisciplinary intervention is often necessary because of the frequent association of psychosocial problems, cognitive and learning difficulties, and aggravation of the symptoms by stress. The understanding of Tourette's syndrome will probably increase significantly with the advent of the newer imaging techniques and the rapid progress of research in the neurosciences.
Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biological products like hormones, peptides, autocrine or paracrine mediators, antibodies or cytotoxic lymphocytes. Of these, hypertrophic osteoarthropathy, carcinomatous polyarthritis, dermatomyositis/polymyositis, and paraneoplastic vasculitis are the most frequently recognized. Other less known associations are based upon a smaller number of case reports, and include palmar fasciitis, panniculitis, erythema nodosum, Raynaud¥s phenomenon, erythromelalgia and Lupus-like syndrome. Usually the clinical course of rheumatic paraneoplastic syndrome and cancer parallels the resolution of the tumor usually leads to resolution of this syndrome. It is difficult make the distinction between idiopathic rheumatic syndromes from those that result from cancer. Still, there are several clinical data that can guide us to the presence of an occult malignancy, and should be identified as the detection of cancer can lead to early treatment and better prognosis. PMID:24007962
Gracia-Ramos, Abraham Edgar; Vera-Lastra, Olga Lidia
This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we highlight the implications for the inclusive education of children and youth
This booklet presents information regarding the history, incidence, and effects of Down Syndrome. The first chapter, presenting an historical perspective of the condition, provides information on counseling parents of Down Syndrome children, and the chromosome structures seen in Down Syndrome patients. The next chapter discusses medical aspects in…
This paper uses a question-and-answer format to summarize information about Williams syndrome, a neurobehavioral congenital disorder which affects development in cognitive, behavioral, and motor areas. Questions address the following topics: characteristics of Williams syndrome; medical problems associated with Williams syndrome; characteristic…
A study found a significantly higher level of peptides in the urine of 53 girls with Rett syndrome compared with controls. The elevation was similar to that in 35 girls with infantile autism. Levels of peptides were lower in girls with classic Rett syndrome than those with congenital Rett syndrome. (Contains references.) (Author/CR)
Solaas, K. M.; Skjeldal, O.; Gardner, M. L. G.; Kase, B. F.; Reichelt, K. L.
Ganser syndrome continues to be a rare and widely misunderstood condition. While DSM-IV classifies Ganser syndrome as a dissociative disorder, its etiology continues to be debated. There are episodic reports in the literature of Ganser syndrome in patients with head trauma or strokes. However, the mechanisms by which these cerebral insults lead to Ganser syndrome or other dissociative states are largely unknown.A case of a patient with Ganser syndrome with a prior history of stroke and bifrontal infarcts is described. This case demonstrates how organic pathology may predispose a patient to dissociative states, such as Ganser syndrome. We review the relationship between hyperglutamatergic states, caused by stroke and stress, and dissociative symptoms.Ganser syndrome continues to be a rare and widely misunderstood condition. While DSM-IV classifies Ganser syndrome as a dissociative disorder, its etiology continues to be debated. There are episodic reports in the literature of Ganser syndrome in patients with head trauma or strokes. However, the mechanisms by which these cerebral insults lead to Ganser syndrome or other dissociative states are largely unknown.A case of a patient with Ganser syndrome with a prior history of stroke and bifrontal infarcts is described. This case demonstrates how organic pathology may predispose a patient to dissociative states, such as Ganser syndrome. We review the relationship between hyperglutamatergic states, caused by stroke and stress, and dissociative symptoms.
This paper introduces educators to CHARGE syndrome (CS), a multiple anomaly developmental syndrome that is usually accompanied by some degree of hearing and visual impairment. We describe the defining medical characteristics of the syndrome, and following this, outline the behavioral features commonly seen in individuals with CS. Throughout, we…
The word "syndrome" is one of those words that has slipped into one's vocabulary with few realizing what exactly it means or all the implications it carries. The word "syndrome" can be defined as "a group of signs and symptoms that occur together and characterize a particular abnormality or condition." Typically, a syndrome will be defined by…
This information sheet briefly describes the history of the identification of Down Syndrome, its prenatal diagnosis, characteristics of individuals with Down Syndrome, its causes, its rate of occurrence and recurrence, its impact on child development, and recommended content of education programs for children with Down Syndrome. A list of seven…
Students exhibiting failure syndrome approach assignments with low expectations of success and tend to give up at early signs of difficulty. This Digest delineates the nature of failure syndrome, suggests strategies for coping with failure syndrome students, and discusses how teachers can help. Some students, especially in the early grades, show…
Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.
The amniotic band syndrome is a collection of fetal malformations associated with fibrous bands that appear to entangle or entrap various fetal parts in utero, leading to deformation, malformation, or disruption. This syndrome is given many names yet follows a clearly defined clinical pattern. Misdiagnosis and inappropriate family counseling are chronic features. This article reviews the clinical features of the amniotic band syndrome, its epidemiology, and the status of prenatal and neonatal diagnosis. The spectrum of malformations associated with amniotic bands is summarized and illustrated. Major etiologic theories are examined. It is recommended that the clinician involved in the delivery of any infant manifesting elements of this unusual combination of defects seek specialized consultation in the pursuit of an accurate and precise diagnosis and appropriate genetic counseling. PMID:7124837
We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. All affected children described are of Athabascan Indian heritage, with eight children from the Navajo tribe and two patients who are of Apache background. The disorder can be distinguished from the Moebius syndrome by the pattern of central nervous system findings, especially the sensorineural deafness, horizontal gaze palsy, and central hypoventilation. Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc. PMID:12833395
Holve, Steve; Friedman, Barbara; Hoyme, H Eugene; Tarby, Theodore J; Johnstone, Sharon J; Erickson, Robert P; Clericuzio, Carol L; Cunniff, Christopher
Colorectal cancer is the most common gastrointestinal malignancy and the second leading cause of cancer death in both men and women in the United States. Most colorectal cancer cases diagnosed annually are due to sporadic events but up to 5% are attributed to known monogenic disorders including Lynch syndrome, Familial Adenomatous Polyposis, MYH-associated polyposis, and the rare hamartomatous polyposis syndromes. These inherited colorectal cancer syndromes confer a markedly increased risk for the development of multiple cancers and predictive genetic testing is available to identify mutation carriers and at-risk family members. Through personalized strategies for diagnosis and management, a substantial reduction in morbidity and mortality has been appreciated among patients at highest risk for the development of colorectal cancer.
Natural rubber latex immunoglobulin E-mediated hypersensitivity is probably one of the most relevant challenges that has been faced in the treatment of allergies during recent years. Additionally, allergen cross-reactivity has arisen as another very important problem, in the difficulty in diagnosing it and in its clinical implications. It is clear that some latex allergens cross-react with plant-derived food allergens, the so-called latex-fruit syndrome, with evident clinical consequences. Although the foods most frequently involved are banana, avocado, kiwi, and chestnut, several others are also implicated. Investigations point to a group of defense-related plant proteins, class I chitinases, which cross-react with a major latex allergen, hevein, as the panallergens responsible for the syndrome. This review focuses on our current understanding of the latex-fruit syndrome. PMID:12542994
Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients. PMID:21351535
Scimitar syndrome is a rare congenital anomaly, characterized by partial or complete anomalous pulmonary venous drainage of the right or left lung into the inferior vena cava. The syndrome is commonly associated with hypoplasia of the right lung, pulmonary sequestration, persisting left superior vena cava, and dextroposition of the heart. The pathogenesis of the syndrome is unclear, but it seems to originate from a basic developmental disorder of the entire lung bud early in embryogenesis. Two main forms of scimitar syndrome have been described. Signs and symptoms can start during infancy (infantile form) or beyond (childhood/adult form). The infantile form generally presents within the first 2 months of life with tachypnea, recurrent pneumonia, failure to thrive, and signs of heart failure. The diagnosis of scimitar syndrome is usually made based on the characteristic chest X-ray films and can be confirmed by angiography; however, it is now done mostly by transthoracic or transesophageal echocardiography, noninvasive computed tomography, or magnetic resonance angiography. Fetal echocardiography using three-dimensional power Doppler imaging permits prenatal diagnosis. Most frequently, patients are asymptomatic in the absence of associated abnormalities and can be followed conservatively. For patients with congestive heart failure, repeated pneumonia, or pulmonary-to-systemic blood flow ratios greater than 1.5 and pulmonary hypertension, it is important to reroute the anomalous right pulmonary veins and repair the associated cardiac defects in order to avoid progression to right ventricular failure. The triad of respiratory distress, right lung hypoplasia, and dextroposition of the heart should alert the clinician to think of scimitar syndrome. PMID:20225123
Multiple autoimmune syndrome is a rare condition, described by Humbert and Dupond in 1988. It is defined by the association of at least 3 autoimmune diseases in the same patient. Vitiligo is the most common skin condition in this syndrome. This article presents the case of a 31-year-old male with vitiligo, alopecia areata, Crohn's disease, psoriasis vulgaris and oral lichen planus. The rarity of this case is highlighted by the coexistence of four autoimmune skin diseases in association with Crohn's disease, never described in the literature. PMID:24770525
The modem scientific method relies on falsification of large, overarching explanatory hypotheses, but refutation at any level is not easily accepted, nor should it necessarily be. Here we discuss the "Dubois syndrome," based on the history of Eugène Dubois, famous for the discovery and interpretation of Pithecanthropus erectus. Widely viewed as unbalanced for his changing understanding of these important fossils, we discuss how his apparent capriciousness was actually a rational conclusion based on his adherence to a broad evolutionary theory. Examples of the Dubois syndrome are common, perhaps especially so in paleoanthropology because the database, even many years later, is small. PMID:23272593
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents. PMID:24770526
Multiple autoimmune syndrome is a rare condition, described by Humbert and Dupond in 1988. It is defined by the association of at least 3 autoimmune diseases in the same patient. Vitiligo is the most common skin condition in this syndrome. This article presents the case of a 31-year-old male with vitiligo, alopecia areata, Crohn's disease, psoriasis vulgaris and oral lichen planus. The rarity of this case is highlighted by the coexistence of four autoimmune skin diseases in association with Crohn's disease, never described in the literature.
A patient is described with features of a superior orbital fissure (Tolosa Hunt) syndrome and a coexistent intraorbital lesion. There was radiological evidence both of narrowing of the carotid artery and of an intraorbital obstruction of venous return from the orbit. The diagnostic value of orbital venography and carotid angiography in the investigation of granulomata in the region of the orbit is stressed. The condition described here is responsive to corticosteroids and it is also inferred that there may be a clinicopathological spectrum encompassing both the Tolosa Hunt syndrome and pseudotumour of the orbit. Images
May-Thurner syndrome, a pelvic vein congenital anomaly is the consequence of compression of the left common iliacal vein by the overlying right common iliacal artery that results in an increased risk for ileofemoral deep vein thrombosis. Authors present a case of a young female with aberration of the pelvic vein, who had also heterozygous Leiden mutation. After confirmation of the diagnosis of May-Thurner syndrome, plastic surgery of the common iliacal vein was performed and anticoagulant treatment was given. PMID:21224190
Radial tunnel syndrome is a pain syndrome resulting from compression of the posterior interosseous nerve at the proximal forearm. It has no specific radiologic or electrodiagnostic findings. Treatment should be started conservatively; if not successful, surgical treatment is indicated. The posterior interosseous nerve may be explored through dorsal or anterior approaches. All the potential sites of entrapment should be released, including complete release of the superficial head of the supinator muscle. Surgical treatment is generally successful, but patients who have associated lateral epicondylitis or those who are involved in workers' compensation claims have less successful outcomes. PMID:23026469
Burning mouth syndrome (BMS) is a chronic condition that is characterized by burning symptoms of the oral mucosa without obvious clinical examination findings. This syndrome has complex characteristics, but its cause remains largely enigmatic, making treatment and management of patients with BMS difficult. Despite not being accompanied by evident organic changes, BMS can significantly reduce the quality of life for such patients. Therefore, it is incumbent on dental professionals to diagnose and manage patients with BMS as a part of comprehensive care. PMID:23809306
Thoppay, Jaisri R; De Rossi, Scott S; Ciarrocca, Katharine N
Polygraphic study in 18 men with the sleep apnoea syndrome showed central, upper airway obstructive, and mixed apnoeas. Fifty per cent of the total apnoea time was central, 33% was obstructive, and 17% was mixed. Apnoeic episodes were accompanied by oxygen desaturation, relative bradycardia and hypotonia of orofacial muscles innervated by ponto-medullary neurons. During regular breathing these muscles revealed tonic and phasic inspiratory EMG activities. The data suggest that the primary sleep apnoea syndrome results from a dysfunction of the central control of breathing.
Ulnar tunnel syndrome could be broadly defined as a compressive neuropathy of the ulnar nerve at the level of the wrist. The ulnar tunnel, or Guyon's canal, has a complex and variable anatomy. Various factors may precipitate the onset of ulnar tunnel syndrome. Patient presentation depends on the anatomic zone of ulnar nerve compression: zone I compression, motor and sensory signs and symptoms; zone II compression, isolated motor deficits; and zone III compression; purely sensory deficits. Conservative treatment such as activity modification may be helpful, but often, surgical exploration of the ulnar tunnel with subsequent ulnar nerve decompression is indicated. PMID:23026462
\\u000a Painful bladder syndrome\\/interstitial cystitis (PBS\\/IC), also known as bladder pain syndrome (BPS\\/IC), is primarily based\\u000a on symptoms of urgency, frequency, and pain in the bladder and\\/or pelvis. Its etiology is not known and clinical characteristics\\u000a vary among patients. Early recognition of BPS\\/IC is very important because the symptoms are quite disabling, affecting quality\\u000a of life and resulting in patients being
Mauro Cervigni; Franca Natale; Albert Mako; Loredana Nasta
Chronic cough has been suggested to be due to three conditions, asthma, post nasal drip, and reflux disease. A different paradigm has evolved in which cough is viewed as the primary condition characterised by afferent neuronal hypersensitivity and different aspects of this syndrome are manifest in the different phenotypes of cough. There are several advantages to viewing cough hypersensitivity as the unifying diagnosis; Communication with patients is aided, aetiology is not restricted and therapeutic avenues opened. Cough Hypersensitivity Syndrome is a more applicable label to embrace the clinical manifestations of this disabling disease.
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child. PMID:23263430
Intra-abdominal hypertension (IAH) associated with organ dysfunction\\u0009\\u0009\\u0009 defines the abdominal compartment syndrome (ACS). Elevated intra-abdominal\\u0009\\u0009\\u0009 pressure (IAP) adversely impacts pulmonary, cardiovascular, renal, splanchnic,\\u0009\\u0009\\u0009 musculoskeletal\\/integumentary, and central nervous system physiology. The\\u0009\\u0009\\u0009 combination of IAH and disordered physiology results in a clinical syndrome\\u0009\\u0009\\u0009 with significant morbidity and mortality. The onset of the ACS requires prompt\\u0009\\u0009\\u0009 recognition and appropriately timed and staged intervention
Sjögren's syndrome (SjS) is an autoimmune disease that affects the salivary and lacrimal glands, but it can also have extra-glandular manifestations. Although pain has not yet been fully studied and characterized, it is a symptom that can be often found in patients with SjS, who mainly complain of neuropathic pain, followed by nociceptive pain. The latter when combined with widespread dysfunctional symptoms is defined fibromyalgia. The aim of this work is to analyze the scientific literature on the presence of pain in patients with primary Sjögren's syndrome. PMID:24938195
Giacomelli, C; Talarico, R; Baldini, C; Bazzichi, L
Neonatal opioid withdrawal syndrome is common due to the current opioid addiction epidemic. Infants born to women covertly abusing prescription opioids may not be identified as at risk until withdrawal signs present. Buprenorphine is a newer treatment for maternal opioid addiction and appears to result in a milder withdrawal syndrome than methadone. Initial treatment is with nonpharmacological measures including decreasing stimuli, however pharmacological treatment is commonly required. Opioid monotherapy is preferred, with phenobarbital or clonidine uncommonly needed as adjunctive therapy. Rooming-in and breastfeeding may decease the severity of withdrawal. Limited evidence is available regarding long-term effects of perinatal opioid exposure. PMID:24845493
Purple urine bag syndrome is a rare disorder where the plastic urinary catheter bag and tubing turn purple. The discolouration is due to the presence of indigo and indirubin pigments which are metabolites of tryptophan. It is associated with urinary tract infection. Bacteria that produce sulphatase and phosphatase are involved in the formation of these pigments. Purple urine bag syndrome is associated with higher morbidity and mortality, compared to urinary tract infection without this phenomenon. We present a case report of this rare phenomenon occurring in a 68-year-old woman. PMID:19495508
Bazex syndrome is a paraneoplastic dermatosis characterized by acral psoriasiform lesions associated with an underlying neoplasm. We present the case of a 64-year-old patient that was diagnosed with squamous cell lung carcinoma after being evaluated for lesions compatible with paraneoplastic acrokeratosis. With a high frequency Bazex syndrome is the earliest marker of an underlying subclinical neoplasm. An early suspicion is of the outmost importance in order to perform a prompt diagnosis of an underlying malignancy. We propose a diagnostic algorithm upon suspicion of acrokeratosis paraneoplastica and review the pathogenesis of this entity. PMID:15857461
Valdivielso, M; Longo, I; Suárez, R; Huerta, M; Lázaro, P
Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935
Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting.
Sudhakara Reddy, R.; Ramesh, T.; Lavanya Reddy, R.; Swapna, L A.; Rajesh Singh, T.
Van der Woude Syndrome is the most common form of syndromic orofacial clefting, accounting for 2% of all cases, and has the phenotype that most closely resembles the more common non-syndromic forms. The syndrome has an autosomal dominant hereditary pattern with variable expressivity and a high degree of penetrance with cardinal clinical features of lip pits with a cleft lip, cleft palate, or both. This case report describes van der Woude syndrome in a 19 year old male patient with a specific reference to the various aspects of this condition, as clinical appearance, etiological factors (genetic aspects), differential diagnosis, investigative procedures and management. Key words:Cleft palate, cleft lip, lip pits, van der Woude syndrome, syndromic clefting. PMID:24558537
Sudhakara Reddy, R; Ramesh, T; Vijayalaxmi, N; Lavanya Reddy, R; Swapna, L A; Rajesh Singh, T
Compared stress levels in families of children with Down syndrome (DS), Williams syndrome (WS), or Smith-Magenis syndrome (SMS). Found that DS families experienced less Pessimism than others and less Parent and Family Problems than SMS families. Strongest predictors of Parent and Family Problems were maladaptive behavior in SMS, younger age in DS,…
Fidler, Deborah J.; Hodapp, Robert M.; Dykens, Elizabeth M.
Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications.
Mintzer, David M.; Billet, Shira N.; Chmielewski, Lauren
Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele. PMID:24745342
Kole, Matthew J; Fridley, Jared S; Jea, Andrew; Bollo, Robert J
Lady Windermere syndrome is right middle lobe or lingular segment bronchiectasis due to Mycobacterium avium intracellulare infection. In this brief report we describe two cases with contrasting clinical courses and discuss controversies regarding aetiology, pathogenesis and treatment. Hypotheses explaining middle lobe predilection are discussed and an alternative hypothesis is offered. PMID:19455268
Lady Windermere syndrome is right middle lobe or lingular segment bronchiectasis due to Mycobacterium avium intracellulare infection. In this brief report we describe two cases with contrasting clinical courses and discuss controversies regarding aetiology, pathogenesis and treatment. Hypotheses explaining middle lobe predilection are discussed and an alternative hypothesis is offered.
Sticky platelet syndrome (SPS) is a thrombophilic thrombocytopathy with familial occurrence and autosomal dominant trait, characterized by an increased in vitro platelet aggregation in response to low concentrations of adenosine diphosphate (ADP) and/or epinephrine (EPI). According to aggregation pattern, three types of the syndrome can be identified (hyperresponse after both reagents, Type I; EPI alone, Type II; ADP alone, Type III). Clinically, the syndrome is associated with both venous and arterial thrombosis. In pregnant women, complications such as fetal growth retardation and fetal loss have been reported. The first thrombotic event usually occurs before 40 years of age and without prominent acquired risk factors. Antiplatelet drugs generally represent adequate treatment. The use of other antithrombotics is usually ineffective and may result in the recurrence of thrombosis. In most patients, low doses of antiplatelet drugs (acetylsalicylic acid, 80-100 mg/d) lead to normalization of hyperaggregability. Combination of SPS with other thrombophilic disorders has been described. Despite several studies investigating platelet glycoproteins' role in platelets' activation and aggregation, the precise defect responsible for the syndrome remains unknown. The aim of this review is to summarize authors' own experience about SPS and the clinical data indexed in selected databases of medical literature (PubMed and Scopus). PMID:23934738
Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…
... publication. To order the Sjögren's Syndrome Q&A full-text version, please contact NIAMS using the contact information above. To view the complete text or to order online, visit ... updates and for any questions about any medications you are taking, please ...
The tremendous forces generated by the upper extremity during throwing places the athlete at risk for developingvalgus tension injuries to the medial aspect of the elbow. Cubital tunnel syndrome, or ulnar neuritis, represents one component of a spectrum of medial elbow pathology that can affect the throwing athlete. This article reviews the pertinent anatomy, pathophysiology, clinical presentation, and surgical treatment
Andrew S. Rokito; Patrick J. Iviciviahon; Frank W. Jobe
Purpose: To compare the incidence of intraoperative and early postoperative complications (IEPC), visual outcomes, and change in intraocular pressure (IOP) between eyes with and without pseudoexfoliation syndrome (PEX) having cataract extraction by phacoemulsification. Material and Method: 800 eyes with PEX and 1,600 eyes without PEX having cataract extraction by phacoemulsification were included in this retrospective study. Evaluated parameters were incidence
Objective: The effects of hydrotherapy on an 11-year-old girl with stage III Rett syndrome were investigated. Methods: The Halliwick method was used to apply hydro- therapy in a swimming pool twice a week for 8 weeks. The girl's physical abilities were assessed 3 times: before and 5 minutes after a single hydrotherapy session and after 8 weeks of hydrotherapy. The
The exophthalmos, myxedema, acropachy (EMA) syndrome is a rare extrathyroid syndrome, interesting about 1% of the patients affected by extrathyroid complications of Graves' disease. The ratio female/male is 3.4:1 and this case report is very rare. The patient, a 52-year-old man, presented a serious ophthalmopathy with pretibial myxedema, acropachy with joint pain. The triad manifested itself after some ophthalmopathy treatments, i.e. total thyroidectomy, steroidal retrobulbar therapy and radiotherapy. The patient received T4 therapy and the thyroid function status was normal. The appearance of the EMA syndrome coincided with the fast worsening of the ophthalmopathy. This case report confirms previous observations regarding the chronological sequence of presentations of extrathyroidal manifestations of autoimmune thyroid disease. The thyroid disease develops first, followed by ophthalmopathy, then dermopathy, and finally, acropachy. The thyroid acropachy shows some differences between pulmonary and paraneoplastic osteoarthropathy, due to the presence of thyroid dermopathy and ophtalmopathy (EMA) and to the different subperiosteal proliferation. Steroidal therapy improved the ophthalmopathy, the pretibial myxedema and the acropachy. The improvement obtained has been faster as regards the exophtalmos and myxedema, slower as regards the acropachy, but of the same importance. In conclusion, acropachy is the latest manifestation of EMA and coincides with the worsening of ophthalmopathy. The traditional steroidal therapy is effective to improve the syndrome. PMID:15257258
We reviewed 42 cases of Crouzon's syndrome. There were 16 cases with ventricular dilation. We believe that shunt should be inserted after fronto-orbital advancement if there are persistent signs of raised intracranial pressure. However, in cases presenting with severe ventricular dilation and papilloedema, a shunt is inserted prior to fronto-orbital advancement. Medium- or high-pressure systems should be used.
Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy. PMID:19434325
Loin pain haematuria syndrome is a descriptive diagnosis of recurrent episodes of loin pain accompanied by haematuria, in which investigations do not reveal adequate pathology to account for the symptoms. The majority of patients present between 20 and 40 years, but onset may occur in older children. A significant number of patients show psychological and psychopathological features. Renal histology may
Susac's Syndrome (SS) consists of the clinical triad of encephalopathy, branch retinal artery occlusion (BRAO), and hearing loss (HL). It is an autoimmune endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear (cochlea and semicircular canals). The age range extends from 7 to 72years, but young women (20–40) are most vulnerable. Headache routinely accompanies the encephalopathy and
Robert Rennebohm; John O. Susac; Robert A. Egan; Robert B. Daroff
Susac's syndrome is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Its pathophysiology is not entirely clear, although it is now thought that it is most probably an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. An early diagnosis is important as treatment can halt
Mario García-Carrasco; César Jiménez-Hernández; Mario Jiménez-Hernández; Stephanie Voorduin-Ramos; Claudia Mendoza-Pinto; Gloria Ramos-Alvarez; Alvaro Montiel-Jarquin; Jorge Rojas-Rodríguez; Ricard Cervera
Susac's syndrome (SS) is an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. SS responds well to immunosuppressive therapies when treatment is prompt, aggressive, and sustained. Striking similarities exist between SS and dermatomyositis (DM), regarding immunopathogenesis, natural history, and treatment needs. We apply lessons learned from study of DM to SS, and offer our current
... will be starting soon to see if this drug can prevent the need for surgery better than beta blockers have. Individuals who have Marfan syndrome are advised to avoid contact and competitive sports and isometric exercise like weight lifting and other ...
The term ‘cardiorenal syndrome’ (CRS) has increasingly been used in recent years without a constant meaning and a well-accepted definition. To include the vast array of interrelated derangements, and to stress the bidirectional nature of the heart-kidney interactions, the classification of the CRS today includes 5 subtypes whose etymology reflects the primary and secondary pathology, the time frame and simultaneous
Claudio Ronco; Chang-Yin Chionh; Mikko Haapio; Nagesh S. Anavekar; Andrew House; Rinaldo Bellomo
The amniotic band syndrome is characterized by severe cranial malformations and constriction defects of the limbs, due to fibrous bands that encircle the developing fetus. The obstetric course is usually unremarkable. One out of every 5,000 newborns has this condition. It is not genetically based and therefore must be differentiated from other forms of birth defects. PMID:6829374
Reversible cerebral vasoconstriction syndrome (RCVS) is an underdiagnosed condition which usually presents as severe headache with or without neurological deficit. We report the case of a 55-year-old woman who presented with headache and multifocal intracerebral haemorrhage. We review the literature regarding the presentation, pathophysiology and management of RCVS and discuss how to differentiate it from cerebral vasculitis. PMID:24087801
Patients with different irritable bowel symptoms and normal subjects were compared to determine whether subtypes of irritable bowel syndrome (IBS) could be distinguished on the basis of colonic motility or psychological test scores. A provocative test involving stepwise distension of the rectosigmoid area revealed two types of colonic motility. Slow contractions having durations of at least 15 sec and occurring
William E. Whitehead; Bernard T. Engel; Marvin M. Schuster
... doesn't relieve pain, a doctor may recommend thoracic outlet decompression surgery to release or remove the structures causing compression ... Vascular TOS, and true neurogenic TOS often require surgery to relieve pressure on the ... Outlet Syndrome Clinical Trials At NIH Clinical Center ...
This study analyzed sixteen cases which appeared to meet Dr. Richard Gardner's criteria for parental alienation syndrome as set forth in his 1987 book. These cases showed a wide diversity of characteristics but Gardner's criteria were useful in differentiating these cases from other post-divorce difficulties. Traditional interventions were ineffective in altering the alienation.
Innovative electronic surveillance systems are being developed to improve early detection of outbreaks attributable to biologic terrorism or other causes. A review of the rationale, goals, definitions, and realistic expectations for these surveillance systems is a crucial first step toward establishing a framework for further research and development in this area. This commentary provides such a review for current syndromic
Functional abdominal pain syndrome (FAPS) differs from the other functional bowel disorders; it is less common, symptoms largely are unrelated to food intake and defecation, and it has higher comorbidity with psy- chiatric disorders. The etiology and pathophysiology are incompletely understood. Because FAPS likely repre- sents a heterogenous group of disorders, peripheral neu- ropathic pain mechanisms, alterations in endogenous pain
DOUGLAS A. DROSSMAN; EMERAN A. MAYER; QASIM AZIZ; DAN L. DUMITRASCU; HUBERT MÖNNIKES; BRUCE D. NALIBOFF
This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in…
Fragile X syndrome is a leading cause of mental retardation worldwide, with an incidence of approximately one case in 2000 live births. It is amongst the most common of human genetic diseases, and was the first to be associated with an unstable trinucleotide (CGG) repeat sequence. It is also characterized by a chromosomal fragile site which was the first of
Hemophagocytic lymphohistiocytosis (HLH) is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues. HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linked with Epstein-Barr (EBV) virus infection. Hyperproduction of cytokines, including
Kawasaki syndrome (KS) is an acute multisystem vasculitis of infancy and early childhood associated with the development of myocarditis and coronary artery abnormalities. Despite the widely held belief that KS is caused by an infectious agent, there remains considerable controversy over its etiology. Recent immunologic and microbiologic studies suggest a potential role for staphylococcal and streptococcal toxins (superantigens) in the
Donald Y. M. Leung; H. Cody Meissner; David R. Fulton; Fred Quimby; Patrick M. Schlievert
Carpal tunnel syndrome is a very common hand problem usually presenting with nighttime pain, numbness, and loss of dexterity. Controversy arises over the diagnosis, treatment, and evaluation of results. Nighttime splinting will improve the symptoms in some patients. If this fails, excellent results can be achieved with surgical decompression of the median nerve in the carpal canal.
Mounier-Kuhn syndrome, or tracheobronchomegaly, is a rare clinical and radiologic condition characterized by marked tracheobronchial dilation and recurrent lower respiratory tract infections. Diagnosis is typically accomplished with the use of computed tomography and bronchoscopy, as well as pulmonary function testing. Patients may be asymptomatic; however, symptoms can range from minimal with preserved lung function to severe respiratory failure. Therapy, if any, is supportive but minimal. Surgery rarely has a place in the treatment of Mounier-Kuhn syndrome. Herein, we report the case of a 58-year-old man with chronic obstructive pulmonary disease who had a chronic cough, increased sputum production, and chest pain. Thoracic computed tomography showed tracheal dilation (diameter, 34 mm) and multiple diverticula in the posterior region of the trachea. Fiberoptic bronchoscopy revealed enlarged main bronchi, the dilated trachea, and prominent tracheal diverticula. Pulmonary function testing disclosed impaired respiratory function. Histopathologic examination of biopsy specimens from the bronchi and the tracheal wall supported the diagnosis of Mounier-Kuhn syndrome. The patient was released from the hospital and his condition was monitored for 2 years, during which time he developed no lower respiratory tract infections. Regardless of radiologic findings that suggest recurrent lower respiratory tract infection, we recommend that Mounier-Kuhn syndrome be considered in the differential diagnosis.
During the past two decades, there has been heated debate about chronic fatigue syndrome (CFS) among researchers, practitioners, and patients. Few illnesses have been discussed so extensively. The existence of the disorder has been questioned, its underlying pathophysiology debated, and an effective treatment opposed; patients' organisations have participated in scientific discussions. In this review, we look back on several controversies
Judith B Prins; Jos WM van der Meer; Gijs Bleijenberg
APS\\/Hughes syndrome is an increasingly diagnosed condition. This chapter emphasizes the need for clinicians to consider the\\u000a full range of differential diagnoses for each clinical state, so that the correct diagnosis is reached in an individual patient.
The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…
Complex interactions existing between cardiac and renal diseases led to define 5 types of so-called cardiorenal syndromes. This classification is based on the organ primarily involved and the acute or chronic failure. The mutual impact of renal and cardiac functions makes it difficult to evaluate and manage patients with cardiorenal syndromes and worsen morbidity and mortality. This review seeks to discuss the place of biomarkers in diagnosis, management and follow-up of patients with cardiorenal syndromes. Biomarkers can be classified as functional (creatinine, cystatin C…) or lesional (neutrophil gelatinase-associated lipocalin, urinary cystatin C…) renal markers and functional (natriuretic peptides…) or lesional (troponin, fatty acid binding protein) cardiac markers. A last kind of biomarkers reflects the dialogue between heart and kidney (renin-angiotensin-aldosteron-system, indicators of activation of arginine vasopressin system) or the systemic impact (inflammation, oxidative stress…). In order to evaluate accurately the complex interactions that are the basis of cardiorenal syndromes, a multi-marker approach seems nowadays necessary. PMID:23906568
The findings in a patient with surgically proven Lutembacher's syndrome (coexisting mitral stenosis and atrial septal defect) are presented. In addition to a typical pattern of mitral stenosis, the preoperative echocardiogram revealed paradoxical septal motion, thereby providing, prior to cardiac catheterization, a basis for the suspicion of an associated lesion due to diastolic overload of the right ventricle. PMID:913159
Quash, J A; Davia, J E; de Castro, C M; Bowen, T E; Green, D C
The development of typical clinical and radiological features of moyamoya syndrome is described in 3 children following radiation therapy for a gliomatous tumor at the base of the brain. The effect of radiation therapy on the medium-sized arteries is discussed with a review of the literature. Radiation therapy as the causative factor for the narrowing or occlusion of the carotid
Kandavanam Rajakulasingam; Leonard J. Cerullo; Anthony J. Raimondi
Animal models are extensively used in genetics, neuroscience and biomedical research. Recent studies illustrate the usefulness and the challenges of research utilising genetically engineered mice to explore the developmental biology of Down syndrome. These studies highlight many of the issues at the centre of what we understand about Down…
The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder.
do Nascimento, Ana Claudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Helio Amante
This article provides an overview of current research on Fragile X Syndrome, and how that knowledge can be used to guide successful intervention. The genetic etiology of Fragile X is reviewed and the physical, cognitive, adaptive, behavioral, and emotional phenotypes of children with the disorder are described, highlighting the differences in presentation among males and females. Comorbidity with autism is
Questions from patients about pain conditions and analgesic pharmacotherapy and responses from authors are presented to help educate patients and make them more effective self-advocates. The topics addressed in this issue are cauda equina syndrome, a dysfunction of the nerves in the spinal canal, and its symptoms, diagnosis, and treatment. PMID:24490897
Prader–Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can
We present a case of silent sinus syndrome (SSS) who underwent unilateral surgical endoscopic maxillary meatotomy. Orbital floor reconstruction is delayed after follow up. Enophthalmos recovered 8 months after the surgery and radiologic findings improved. SSS is a clinical entity that should be kept in mind in the differential diagnosis of enophthalmos and can be treated successfully via endoscopic approach. PMID:19845229
Miman, M C; Akarcay, M; Doganay, S; Erdem, T; Firat, Y
In several earlier investigations an exceptionally high frequency of stuttering in individuals with Down's syndrome has been found. It has been doubted whether these symptoms represent genuine stuttering, or if it is the question of stuttering-like behavior, particularly cluttering. Statistical analysis showed the occurrence of stuttering and…
The description of the thalamic syndrome by J. Dejerine and G. Roussy in 1906 was a consecration of the clinicopathologic method, announcing the end of discussions relative to the role of the thalamus as a sensorial relay center, discussions opposing B. Luys to Türk and to Charcot and which animated the end of the 19th century. Since then, the thalamic syndrome has not ceased to arouse the attention of neurologists, who have developed four major themes: the specificity of the thalamic hemianesthesia; the mechanism of the central pain; the semiologic value and physiopathology of the abnormal movements; and finally the pupillary and vasomotor disorders. Exploration of each of these topics led to a definition of neurologic semiology and to the development of neurophysiology during the second half of the XXth century. By reviewing this the confrontation between different men and schools appears behind the opposition of ideas. The revision of the thalamic syndrome ceased when the discovery of the non-specific functions of the thalamus opened the way to new concepts. Dejerine-Roussy's syndrome expresses the semiology of the relay nuclei. For the last thirty years, experience has accumulated on the semiology of lesions affecting the nuclei of convergence. Neuropsychology of thalamic lesions has demonstrated the regulatory role performed by the thalamus within each hemisphere and in the relative activation of each hemisphere. But this is another story. PMID:6763299
Authors study four cases, two siblings in two different families, with several anomalies allowing to consider them as examples of the Meckel-Grüber syndrome. A review of the recent literature about this entity is made, as well as a comparative study of the anomalie present in the published cases. PMID:464411
Alonso, J A; Gómez Castillo, E; Arribas, M; Luque, R; Rubio, C
A case of a 10-year-old boy reported to us for delayed eruption of permanent teeth with classical features of orofacial digital syndrome (OFDS). The case of OFDS is being reported and the various clinico-radiological features of both type I and type II are compared. Chromosomal karyotyping of the case has also been performed. PMID:23852247
In this review we summarize a number of cases of Sweet's syndrome (SS) associated with sarcoidosis that have been reported in the English literature. In all of the cases, the two disorders were diagnosed simultaneously. Patients with both disorders were younger and had a higher rate of fever than patients with SS alone. In this group of patients, we found
The piriformis syndrome is reputed by most to be a rare condition, arising from an anatomical anomaly or variation. The anomaly occurs when the tibial and common peroneal nerves arise separately while the posterior femoral cutaneous nerve (the small sciatic nerve) arises from the dorsal portions of S1 and S2 and ventral divisions of S2 and S3 in two separate
Ischiofemoral impingement syndrome is known as one of the causes of hip pain due to impingement of ischium and femur, and usually correlated with trauma or operation. We report a rare case of ischiofemoral impingement syndrome that has no history of trauma or surgery. A 48-year-old female patient was referred for 2 months history of the left hip pain, radiating to lower extremity with a hip snapping sensation. She had no history of trauma or surgery at or around the hip joint and femur. The magnetic resonance imaging (MRI) of the lumbar spine showed no abnormality, except diffuse bulging disc without cord compression at the lumbosacral area. Electrophysiologic study was normal, and there were no neurologic abnormalities compatible with the lumbosacral radiculopathy or spinal stenosis. Hip MRI revealed quadratus femoris muscle edema with concurrent narrowing of the ischiofemoral space. The distance of ischiofemoral space and quadratus femoris space were narrow. It was compatible with ischiofemoral impingement syndrome. After treatment with nonsteroidal anti-inflammatory drugs, physical therapy, and exercise program, the patient's pain was relieved and the snapping was improved. To our knowledge, this is the first reported case of a nontraumatic, noniatrogenic ischiofemoral impingement syndrome, and also the first case to be treated by a nonsurgical method in the Republic of Korea.
Ischiofemoral impingement syndrome is known as one of the causes of hip pain due to impingement of ischium and femur, and usually correlated with trauma or operation. We report a rare case of ischiofemoral impingement syndrome that has no history of trauma or surgery. A 48-year-old female patient was referred for 2 months history of the left hip pain, radiating to lower extremity with a hip snapping sensation. She had no history of trauma or surgery at or around the hip joint and femur. The magnetic resonance imaging (MRI) of the lumbar spine showed no abnormality, except diffuse bulging disc without cord compression at the lumbosacral area. Electrophysiologic study was normal, and there were no neurologic abnormalities compatible with the lumbosacral radiculopathy or spinal stenosis. Hip MRI revealed quadratus femoris muscle edema with concurrent narrowing of the ischiofemoral space. The distance of ischiofemoral space and quadratus femoris space were narrow. It was compatible with ischiofemoral impingement syndrome. After treatment with nonsteroidal anti-inflammatory drugs, physical therapy, and exercise program, the patient's pain was relieved and the snapping was improved. To our knowledge, this is the first reported case of a nontraumatic, noniatrogenic ischiofemoral impingement syndrome, and also the first case to be treated by a nonsurgical method in the Republic of Korea. PMID:23526578
Lee, Soyoung; Kim, Inhwan; Lee, Sung Moon; Lee, Jieun
Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision. PMID:24379505
A boy with linear sebaceous nevus syndrome was followed up to 3 years of age, at which time he died of pneumonia. The lesions of nevus sebaceus were located in the midline and on both sides of the face and there were partial colobomata of the right outer canthus continuous with pseudopterygium and of the left upper eyelid. At 2
Purple urine bag syndrome (PUBS) is rare disease entity, occurs predominantly in constipated women, chronically catheterized and associated with bacterial urinary infections that produce sulphatase/phosphatase. The etiology is due to indigo (blue) and indirubin (red) or to their mixture that becomes purple. We present a case report of this rare phenomenon occurring in an 86-year-old woman. PMID:24479059
The Persephone syndrome is epitomized in over sixty cases of married Greek immigrant women involved in long-term psychiatric treatment. While the presenting conditions were anxiety, depression, psychophysiologic manifestations, and gross stress reactions, transient psychotic episodes necessitating short hospitalizations were often observed. The basic dynamic constellation revealed strong, unresolved emotional attachment to the mother which the patient unconsciously attempted to compromise
The Klippel-Trenaunay syndrome is a rare congenital pathology which includes varices, hemangiomas and hypertrophy of limbs. The Authors report two cases and pay particular attention to the diagnostic and therapeutical protocols. Although these aspects are still open questions, the Authors conclude that conservative therapy is often sufficient while surgery is requested only in the severe forms. PMID:9044601
Sichel, L; Basile, A; Di Benedetto, V; Papale, A; Ripepi, M; Scala, V; Latteri, F
There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…
In the pelvic region three major compartments (gluteus medius-minimus compartment, gluteus maximus compartment, and iliopsoas compartment) can be distinguished from the smaller compartment of the tensor fasciae latae muscle. Pelvic compartment syndromes are rare. A clear history of trauma is often lacking. Association with drug and alcohol abuse is common, as is the association with the widespread use of anticoagulant
The hallmark of any compartment syndrome, whether acute or chronic, is the elevation of soft tissue pressure within a closed space even if the primary event was different. Acute cases are most often trauma-related and can lead to irreversible neuromuscular dysfunction. They require immediate dermofasciotomy to decompress the soft tissue and avoid ischemia. The diagnosis should rely on physical examination
Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision relative to treatment, and long-term prognosis as information on long-term survival and quality of life for those born with the syndrome is limited.
A psychosomatic syndrome is defined as a syndrome in which psychological processes play a substantial role in the etiology of the illness in some of the patients. The main conclusions on the extent of the biological and psychosocial contributions to several psychosomatic syndromes are presented and the relationship of these syndromes to somatization and somatoform disorders is discussed. The syndromes
The association of cardiac defects with Kabuki syndrome has been well described. The majority of these defects are isolated\\u000a shunt lesions, conotruncal abnormalities, or various forms of arch obstruction. This report describes a series of three patients\\u000a with hypoplastic left heart syndrome and Kabuki syndrome. The series illustrates the full spectrum of left-sided obstructive\\u000a lesions and expands the phenotype of
Grace C. Kung; Philip M. Chang; Mark S. Sklansky; Linda M. Randolph
Metabolic syndrome is an increasing pathology in adults and in children, due to a parallel rise of obesity. Sedentary lifestyle, food habits, cultural influences and also a genetic predisposition can cause dyslipidemia, hypertension, abdominal obesity and insulin resistance which are the two main features of metabolic syndrome. Polycystic ovary syndrome (PCOS) is a condition directly associated with obesity, insulin resistance (HOMA index) and metabolic syndrome, and it is very interesting for its relationship and overlap with the metabolic syndrome. The relationship between the two syndromes is mutual: PCOS women have a higher prevalence of metabolic syndrome and also women with metabolic syndrome commonly present the reproductive/endocrine trait of PCOS. Prevention and treatment of metabolic syndrome and PCOS are similar for various aspects. It is necessary to treat excess adiposity and insulin resistance, with the overall goals of preventing cardiovascular disease and type 2 diabetes and improving reproductive failure in young women with PCOS. First of all, lifestyle changes, then pharmacological therapy, bariatric surgery and laparoscopic ovarian surgery represent the pillars for PCOS treatment. PMID:24552422
Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine “experiments of nature” in which the deletion or alteration of one gene or a contiguous set of genes can be linked to aberrant brain structure or function. Converging evidence across multiple imaging modalities has now begun to highlight the abnormal neural circuitry characterizing many individual neurogenetic syndromes. Furthermore, there has been renewed interest in combining analyses across neurogenetic conditions in order to search for common organizing principles in development. In this review, we highlight converging evidence across syndromes from multiple neuroimaging modalities, with a particular emphasis on functional imaging. In addition, we discuss the commonalities and differences pertaining to selective deficits in visuospatial processing that occur across four neurogenetic syndromes. We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations.
Abdominal compartment syndrome is defined as sustained intra-abdominal pressure greater than 20 mm Hg (with or without abdominal perfusion pressure <60 mm Hg) associated with new organ failure or dysfunction. The syndrome is associated with 90% to 100% mortality if not recognized and treated in a timely manner. Nurses are responsible for accurately measuring intra-abdominal pressure in children with abdominal compartment syndrome and for alerting physicians about important changes. This article provides relevant definitions, outlines risk factors for abdominal compartment syndrome developing in children, and discusses an instructive case involving an adolescent with abdominal compartment syndrome. Techniques for measuring intra-abdominal pressure, normal ranges, and the importance of monitoring in the critical care setting for timely identification of intra-abdominal hypertension and abdominal compartment syndrome also are discussed. PMID:23203955
Accepted 20 August 1996? AIM—To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood.?METHODS—40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition.?RESULTS—Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome.?CONCLUSIONS—These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.??
Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa syndromes have also been described, some of them exhibiting mental retardation, but no reports have drawn an association with overgrowth or abnormal facies characteristic of Sotos syndrome. We report three patients with the anthropometric and dysmorphological appearance of classical Sotos syndrome in association with redundant skin folds, joint hypermobility, and, in two of the three, vesicoureteric reflux suggestive of a coexisting connective tissue disorder. All of the patients had a normal bone age suggesting that Sotos syndrome in its classically described form was not present and that this entity possibly reflects a related, perhaps allelic, condition. ???Keywords: Sotos syndrome; cutis laxa; vesicoureteric reflux
The restless legs syndrome (RLS) is a chronic sensori-motor disorder characterized by a complaint of an irresistible urge to move the legs. This urge can often be accompanied by pain or other unpleasant sensations, it either occurs or worsens with rest, particularly at night, and temporarily improves with activity. Prevalence estimates vary between 7.2% and 11.5% of the Caucasian adult population. RLS prevalence increases with age, and women are more frequently affected than men. In France, a prevalence rate of 8.5% was estimated. Although RLS is mainly idiopathic, several clinical conditions have been associated with it, mainly pregnancy, iron deficiency with or without anemia, end-stage renal disease and peripheral neuropathy. RLS is often underdiagnosed and there is a clear need for complementary education to improve the accurate diagnosis of RLS. Indeed, a better knowledge of this syndrome is a prerequisite to prompt an appropriate therapeutic management. PMID:20334990
A case of a 56-years old male with rheumatoid arthritis and unclear tumoral radiological changes in the lungs was described. Since noninvasive diagnostic procedures failed to explain nature of the pulmonary changes, an open pulmonary biopsy was performed. Pathological examination revealed presence of rheumatoid nodules and pneumoconiosis, typical for Caplan's syndrome. In the past, the patient had been working in foundry industry for 16 years and he had been exposed to silica and iron dust. Articular symptoms were revealed prior to finding the lung changes even dust exposure had occurred many years earlier. In spite of the fact that rheumatoid arthritis is a relatively common disease and pneumoconiosis is also not rare entity, the coexistence of both conditions i.e. Caplan's syndrome has been rarely diagnosed and described. PMID:16808317
Zielonka, Tadeusz M; Bare?a, Dagmara; Zukowska, Ma?gorzata; Langfort, Renata; Rudzi?ski, Piotr; Chazan, Ryszarda
The sticky platelets syndrome (SPS) is a procoagulant condition based on either arterial, venous, or capillary thrombi caused by hyperesponsive and hyperaggregable platelets. This is a frequent disease, which often remains clinically inapparent, until stressful events or combination with other factors increase the risk of developing SPS. The condition is due to a congenital platelet defect with autosomal dominant characteristics, leading to the increased platelet aggregability when they are challenged with epinephrine and adenosine diphosphate. Nowadays classification of this disorder is based on platelet reactivity to both ADP and epinephrine (SPS type 1), epinephrine alone (SPS type 2), and ADP alone (SPS type 3). The diagnoses of the syndrome depend on the functional aggregometer assay. This condition should be taken into account whenever a patient with thrombophilia is considered. PMID:23433500
Empty follicle syndrome (EFS) is a condition in which no oocytes are retrieved after an apparently adequate ovarian response to stimulation and meticulous follicular aspiration. EFS can be classified into 'genuine' and 'false' types according to hCG levels. It is a rare condition of obscure etiology. The existence of genuine EFS has been questioned and is still controversial. The limitation around EFS is that the definition of EFS is obscure. Management of patients with EFS is a challenge to physicians. No single treatment is known to be universally effective. However, patients should be adequately informed regarding the importance of correct hCG administration because improper hCG administration is a common and preventable cause of EFS. EFS is a syndrome that deserves additional study because such investigation could lead to a further understanding of ovarian biology and infertility. PMID:23346522
A 63-year-old female presented to our department complaining of epigastric pain, nausea and vomiting. Symptoms started after a significant loss of weight and persisted despite treatment, leading to hospitalization for dehydration and renal failure due to protracted vomiting. During hospitalization, no pathology could be identified and the patient was discharged. Symptoms persisted and she was eventually readmitted. Superior mesenteric artery syndrome was diagnosed based upon clinical suspicion and barium studies. She was subjected to duodenojejunostomy after failure of conservative treatment. Her immediate postoperative course was uneventful and the patient was well during her two-year follow-up. Clinicians should be suspicious of superior mesenteric artery syndrome, albeit rare, and be aware of its treatment, which is either conservative or surgical.
Greater trochanteric pain is one of the common complaints in orthopedics. Frequent diagnoses include myofascial pain, trochanteric bursitis, tendinosis and rupture of the gluteus medius and minimus tendon, and external snapping hip. Furthermore, nerve entrapment like the piriformis syndrome must be considered in the differential diagnosis. This article summarizes essential diagnostic and therapeutic steps in greater trochanteric pain syndrome. Careful clinical evaluation, complemented with specific imaging studies and diagnostic infiltrations allows determination of the underlying pathology in most cases. Thereafter, specific nonsurgical treatment is indicated, with success rates of more than 90?%. Resistant cases and tendon ruptures may require surgical intervention, which can provide significant pain relief and functional improvement in most cases. PMID:24414233
Gollwitzer, H; Opitz, G; Gerdesmeyer, L; Hauschild, M
Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examination with hematological and radiological investigations is required for clinical evaluation. Management is a combined effort involving a dermatologist, endocrinologist, gynecologist, and nutritionist. Morbidity in addition includes a low "self image" and poor quality of life. Long term medications and lifestyle changes are essential for a successful outcome. This article focuses on understanding the normal and abnormal endocrine functions involved in the pathogenesis of PCOS. Proper diagnosis and management of the patient is discussed. PMID:23619436
Madnani, Nina; Khan, Kaleem; Chauhan, Phulrenu; Parmar, Girish
Lance-Adams syndrome (LAS) is a rare complication of successful cardiopulmonary resuscitation and is often accompanied by action myoclonus. LAS is seen in patients who have undergone a cardiorespiratory arrest, later regained consciousness, and then developed myoclonus days or weeks after the event. Less than 150 cases of LAS have been reported in the worldwide medical literature. Here, we present a 32-year-old man who suffered from myoclonus after hypoxic brain damage due to hanging himself. This case was diagnosed as Lance-Adams syndrome according to a history of hypoxic brain damage, the clinical features, and the neuroimages such as brain SPECT. Making an early diagnosis and properly managing LAS is positively related to improving the patient's functional outcome. If patients have posthypoxic myoclonus after successful cardiopulmonary resuscitation, we should consider the diagnosis of LAS and initiate a proper rehabilitation program.
The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted “genomic disorders” or “contiguous gene syndromes” is given.
Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena, Juan C.; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas
Rumination syndrome is the non-purposeful regurgitation of recently ingested food from the stomach to the mouth, where it is either expelled or reswallowed. Adolescent rumination syndrome (ARS) is a rare condition of which many physicians are unaware. Patients often are misdiagnosed or undergo costly testing, and as a result, diagnosis and treatment are often delayed. While ARS is not life-threatening, it does have medical and emotional effects on the patient and the patient's family. Diagnosis of ARS is based upon the Rome III diagnostic criteria. Antroduodenal manometry, while not required for a diagnosis, can be helpful to confirm the diagnosis. The pathogenesis of this disorder is complex and not well understood. However, because of its behavioral component, treatment of ARS requires a multidisciplinary approach that includes both medical management of symptoms and implementation of strategies that address behavioral, psychological, and general quality-of-life components of the disorder. PMID:25064317
Shaken baby syndrome is the most common cause of death or serious neurological injury resulting from child abuse. It is specific to infancy, when children have unique anatomic features. Subdural and retinal haemorrhages are markers of shaking injury. An American radiologist, John Caffey, coined the name whiplash shaken infant syndrome in 1974. It was, however, a British neurosurgeon, Guthkelch who first described shaking as the cause of subdural haemorrhage in infants. Impact was later thought to play a major part in the causation of brain damage. Recently improved neuropathology and imaging techniques have established the cause of brain injury as hypoxic ischaemic encephalopathy. Diffusion weighted magnetic resonance imaging is the most sensitive and specific method of confirming a shaking injury. Families of children with subdural haemorrhages should be thoroughly investigated by social welfare agencies.
The abdominal compartment syndrome (ACS) was first described in surgical patients with abdominal aortic aneurysm repair, trauma, bleeding, or infection, but in recent years it has also been described in patients with other pathologies such as burn injury and sepsis and in medical patients. This F1000 Medicine Report is intended to provide critical care physicians a clear insight into the current state of knowledge regarding intra-abdominal hypertension (IAH) and ACS, and will focus primarily on the recent literature as well as on the definitions and recommendations published by the World Society of the Abdominal Compartment Syndrome. The definitions regarding increased intra-abdominal pressure (IAP) will be listed, followed by a brief but comprehensive overview of the different mechanisms of organ dysfunction associated with IAH. The gold standard measurement technique for IAP as well as recommendations for organ function support in patients with IAH and options for medical and surgical treatment of IAH and ACS will be discussed.
Vulvar vestibulitis syndrome (VVS) is one of the most common causes of genital pain and pain with sexual intercourse, affecting up to 15% of women. The syndrome is characterized by severe pain on vestibular touch or attempted vaginal entry, exquisite tenderness to palpation with a cotton swab, and often subtle physical findings confined to vestibular erythema. The etiology of VVS is unknown. However, it is probably best to consider VVS as a chronic local inflammatory condition with a wide variety of etiologic causes. The heterogeneity of potential etiologies for VVS results in the use of multiple treatment regimens in clinical practice. Scientifically rigorous studies are sorely needed to determine the best treatment approach. PMID:17064641
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are: microcephaly, present at birth and progressive with age, dysmorphic facial features, mild growth retardation, mild-to-moderate intellectual disability, and, in females, hypergonadotropic hypogonadism. Combined cellular and humoral immunodeficiency with recurrent sinopulmonary infections, a strong predisposition to develop malignancies (predominantly of lymphoid origin) and radiosensitivity are other integral manifestations of the syndrome. The NBN gene codes for nibrin which, as part of a DNA repair complex, plays a critical nuclear role wherever double-stranded DNA ends occur, either physiologically or as a result of mutagenic exposure. Laboratory findings include: (1) spontaneous chromosomal breakage in peripheral T lymphocytes with rearrangements preferentially involving chromosomes 7 and 14, (2) sensitivity to ionizing radiation or radiomimetics as demonstrated in vitro by cytogenetic methods or by colony survival assay, (3) radioresistant DNA synthesis, (4) biallelic hypomorphic mutations in the NBN gene, and (5) absence of full-length nibrin protein. Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). In fact, NBS was most commonly confused with Fanconi anaemia and LIG4 syndrome. Genetic counselling should inform parents of an affected child of the 25% risk for further children to be affected. Prenatal molecular genetic diagnosis is possible if disease-causing mutations in both alleles of the NBN gene are known. No specific therapy is available for NBS, however, hematopoietic stem cell transplantation may be one option for some patients. Prognosis is generally poor due to the extremely high rate of malignancies. Zespó? Nijmegen (Nijmegen breakage syndrome; NBS) jest rzadkim schorzeniem z wrodzon? niestabilno?ci? chromosomow? dziedzicz?cym si? w sposób autosomalny recesywny, charakteryzuj?cym si? przede wszystkim wrodzonym ma?og?owiem, z?o?onymi niedoborami odporno?ci i predyspozycj? do rozwoju nowotworów. Choroba wyst?puje najcz??ciej w populacjach s?owia?skich, w których uwarunkowana jest mutacj? za?o?ycielsk? w genie NBN (c.657_661del5). Do najwa?niejszych objawów zespo?u zalicza si?: ma?og?owie obecne od urodzenia i post?puj?ce z wiekiem, charakterystyczne cechy dysmorfii twarzy, opó?nienie wzrastania, niepe?nosprawno?? intelektualn? w stopniu lekkim do umiarkowanego oraz hipogonadyzm hipogonadotropowy u dziewcz?t. Na obraz choroby sk?adaj? si? tak?e: niedobór odporno?ci komórkowej i humoralnej, który jest przyczyn? nawracaj?cych infekcji, znaczna predyspozycja do rozwoju nowotworów z?o?liwych (zw?aszcza uk?adu ch?onnego), a tak?e zwi?kszona wra?liwo?? na promieniowanie jonizuj?ce. Wyniki bada? laboratoryjnych wykazuj?: (1) spontaniczn? ?amliwo?? chromosomów w limfocytach T krwi obwodowej, z preferencj? do rearan?acji chromosomów 7 i 14, (2) nadwra?liwo?? na promieniowanie jonizuj?ce lub radiomimetyki, co mo?na wykaza? metodami in vitro, (3) radiooporno?? syntezy DNA, (4) hipomorficzne mutacje na obu allelach genu NBN, oraz (5) brak w komórkach
In this review we summarize a number of cases of Sweet's syndrome (SS) associated with sarcoidosis that have been reported in the English literature. In all of the cases, the two disorders were diagnosed simultaneously. Patients with both disorders were younger and had a higher rate of fever than patients with SS alone. In this group of patients, we found a trend toward less skin involvement of the face and trunk, more involvement of the upper limbs, and more atypical skin lesions, particularly papules. The association of the two disorders seems to be more related to a subset of acute sarcoidosis (Lofgren's syndrome). All of the patients in this group had a benign course and self-limiting disease. Thus, SS in association with sarcoidosis could be considered a favorable prognostic factor. Although SS has a high rate of recurrence, no recurrence occurred in this group of patients during follow-up. PMID:16314234
Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of the spine, tumors located inside the vertebral channel, or entrapment of the sciatic nerve in the piriformis muscle. The piriformis syndrome is primarily caused by fall injury, but other causes are possible, including pyomyositis, dystonia musculorum deformans, and fibrosis after deep injections. Secondary causes like irritation of the sacroiliac joint or lump near the sciatic notch have been described. In the general practice the so-called posttraumatic piriformis muscle syndrome is common. The right treatment can be started following a thorough investigation into the cause of symptoms. PMID:17385355
Hemophagocytic lymphohistiocytosis (HLH) is an unusual syndrome characterized by fever, splenomegaly, jaundice, and the pathologic finding of hemophagocytosis (phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors) in bone marrow and other tissues. HLH may be diagnosed in association with malignant, genetic, or autoimmune diseases but is also prominently linked with Epstein-Barr (EBV) virus infection. Hyperproduction of cytokines, including interferon-gamma and tumor necrosis factor-alpha, by EBV- infected T lymphocytes may play a role in the pathogenesis of HLH. EBV-associated HLH may mimic T-cell lymphoma and is treated with cytotoxic chemotherapy, while hemophagocytic syndromes associated with nonviral pathogens often respond to treatment of the underlying infection.
The snapping hip syndrome is a symptom complex characterized by hip pain and an audible snapping of the hip with exercise typically seen in young individuals. "External" and "internal" etiologies have been described, although the "internal" etiology is poorly understood. A clinical, radiographic, and anatomical study of eight patients with this disorder, secondary to an internal etiology, was undertaken to aid in the diagnosis and surgical treatment. Iliopsoas bursography with cineradiography revealed subluxation of the iliopsoas tendon to be an apparent cause of the snapping hip. The anatomy of the hip in relationship to the iliopsoas tendon is defined with the anterior inferior iliac spine, iliopectineal eminence, and lesser trochanter assuming a significant role in the syndrome. An operative approach involving a partial release and lengthening of the iliopsoas tendon, with minimal resection of a lesser trochanteric bony ridge, if involved, is described. PMID:6496831
Chronic exertional compartment syndrome is an often overlooked and uncommon cause of pain in the extremities of individuals who engage in repetitive physical activity. A thorough history, a careful physical examination, and compartment pressure testing are essential to establish the diagnosis. Catheter measurements can provide useful information on baseline resting compartment pressures as well as compartment pressures after exercise or trauma. Patients with chronic exertional compartment syndrome usually do not respond to nonsurgical therapy other than completely ceasing the activities that cause the symptoms. Surgical intervention entails fasciotomies of the involved compartments. Although obtaining accurate compartment pressure measurements can be difficult and fascial releases must be done carefully, patients typically have satisfactory functional results and are able to return to their usual physical activities after fasciotomy. PMID:12889865
Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images
Sturge-Weber syndrome (SWS) is a rare congenital disease which affects the brain, the skin and the eyes. It is a sporadically occurring neurocutaneous syndrome affecting the intracerebral veins (venous angiomatosis). The frequency is estimated to be 1 in 50,000 births . The main symptom is intracranial leptomeningeal angiomatosis which mostly affects the occipital and posterior parietal lobes and can occur unilaterally and also bilaterally. Facial cutaneous vascular alterations occur ipsilaterally in the form of port wine stains (nevus flammeus) which are normally found in the catchment area of the trigeminal branch VI. Other clinical symptoms associated with SWS are seizures, glaucoma, headaches, transient neurological stroke-like episodes and cognitive impairment. Neurological cortical symptoms often include hemiparesis, hemiatrophy and hemianopsia. PMID:24292369
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGF?) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGF? signalling. These insights offer new options for therapeutic interventions. PMID:24443023
Patient: Male, 0 Final Diagnosis: Pallister-Killian syndrome Symptoms: Decidious tooth • flattened nasal bridge • frontal bossing • grooved palate • low-set ears • mid-facial hypoplasia • nuchal fold thickening • right inquinal testis • shortened upper extremities • undescended left intraabdominal testis • widely spaced nipples Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Congenital defects/diseases Background: Pallister-Killian syndrome (PKS) is a rare, sporadic, polydysmorphic condition that often has highly distinctive features. The clinical features are highly variable, ranging from mild to severe intellectual disability and birth defects. We here report the first case of PKS diagnosed at our institution in a patient in the second trimester of pregnancy. Case Report: A pregnant 43-year-old woman presented for genetic counseling secondary to advanced maternal age and an increased risk for Down syndrome. Ultrasound showed increased fetal nuchal fold thickness, short limbs, polyhydramnios, and a small stomach. The ultrasound evaluation was compromised due to the patient’s body habitus. The patient subsequently underwent amniocentesis and the karyotype revealed the presence of an isochromosome in the short arm of chromosome 12 consistent with the diagnosis of Pallister-Killian syndrome. Postnatally, the infant showed frontal bossing, a flattened nasal bridge, mid-facial hypoplasia, low-set ears, a right upper deciduous tooth, grooved palate, nuchal fold thickening, widely spaced nipples, left ulnar polydactyly, simian creases, flexion contractures of the right middle finger, shortened upper extremities, undescended left intraabdominal testis, and right inguinal testis. Conclusions: The occurrence of PKS is sporadic in nature, but prenatal diagnosis is possible.
Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding and fluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, while multiplex ligation-dependent probe amplification (MLPA)
Opinion statement \\u000a Post-polio syndrome (PPS) is the term used for the new late manifestations that occur in patients 30 to 40 years after the occurrence of acute\\u000a poliomyelitis. PPS has been recognized for over 100 years, but is more common at the present time because of the large epidemics\\u000a of poliomyelitis in the 1940s and 1950s. PPS is manifested by
A 77-year-old woman presented with the complaint of observing her left hand moving without her knowledge while watching television. Her left hand stroked her face and hair as if somebody was controlling it. These movements lasted only half an hour but on recovery, she had left hemiparesis. Alien hand syndrome as the presentation of cardioembolic stroke is extremely rare but can be terrifying to patients. PMID:24982566
A 77-year-old woman presented with the complaint of observing her left hand moving without her knowledge while watching television. Her left hand stroked her face and hair as if somebody was controlling it. These movements lasted only half an hour but on recovery, she had left hemiparesis. Alien hand syndrome as the presentation of cardioembolic stroke is extremely rare but can be terrifying to patients.
Susac's syndrome (SS) is an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. SS responds well to immunosuppressive therapies when treatment is prompt, aggressive, and sustained. Striking similarities exist between SS and dermatomyositis (DM), regarding immunopathogenesis, natural history, and treatment needs. We apply lessons learned from study of DM to SS, and offer our current treatment protocol for SS. Since these treatment guidelines are based mainly on anecdotal evidence, they represent only preliminary recommendations. PMID:17324441
Susac's syndrome is an infrequent neurological disorder characterized by the clinical triad of encephalopathy, hearing loss, and branch retinal artery occlusions. Its pathophysiology is not entirely clear, although it is now thought that it is most probably an immune-mediated endotheliopathy that affects the microvasculature of the brain, retina, and inner ear. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. PMID:21515413
The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild androgen insensitivity syndrome (MAIS). The androgen receptor (AR) is encoded by an 8 exon gene on the X chromosome long arm. More than 800 mutations in the AR gene have been reported in AIS patients (www.androgendb.mcgill.ca/). They are distributed throughout the gene with a preponderance located in the ligand binding domain. The most severe mutations are generally associated with a CAIS phenotype, but the correlation is less defined in PAIS. CAIS presents typically as primary amenorrhoea in an adolescent female and less commonly in infancy with bilateral inguinal/labial swellings due to testes. The differential diagnosis in CAIS is limited, whereas in PAIS, numerous other causes of DSD can also produce the typical phenotype of micropenis, severe hypospadias and bifid scrotum. Management issues in CAIS involve timing of gonadectomy, appropriate hormone replacement therapy and assessment of the need for vaginal dilation or rarely, vaginal surgery. The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Expert psychological counseling is mandatory to manage the disconnect between chromosomal, gonadal and phenotypic sex and to choreograph the evolving process of disclosure from late childhood through to maturity. It is implicit that management in AIS requires a multidisciplinary team and engagement with patient advocacy groups. PMID:23044881
Hughes, Ieuan Arwel; Werner, Ralf; Bunch, Trevor; Hiort, Olaf
Micro syndrome is an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis, or hypoplasia of the corpus callosum and hypogenitalism. We report an 11-month-old boy who was referred for assessment of micropenis and cryptorchidism. Sequence analysis of exon 8 of the RAB3GAP1 gene confirmed the presence of a splice donor mutation (748+1G>A) in the homozygous state. PMID:22768674
Le Blueberry Muffin Baby est un syndrome cutané rare observé en période néonatale. Il est caractérisé par des papulo-nodules disséminés inflammatoires traduisant des réactions d'hématopoïèse dermique. Plusieurs causes doivent être recherchées, notamment les infections congénitales, une hémolyse sévère et les pathologies tumorales. Nous rapportons l'observation d'un nouveau-né chez qui l'aspect d'un Blueberry muffin baby a conduit au diagnostic d'une leucémie aiguë myéloïde.
Pelvic congestion syndrome (PCS) is an important cause of chronic pelvic pain in female patients. Chronic pelvic pain, defined as lower abdominal or pelvic pain for a duration of 6 months or more, causes significant morbidity and results in a large number of diagnostic laparoscopies. It is of utmost importance to identify treatable causes of chronic pelvic pain, one of which is PCS. The etiology, clinical features, investigations, and treatment options in PCS have been discussed in this paper. PMID:23795992
Guillain-Barr syndrome (GBS) is an autoimmune acute peripheral neuropathy. Frequently a flu-like episode or a gastroenteritis\\u000a precede GBS, and the cross-reactivity between microbial and neural antigens partly explains the pathophysiology of the disease\\u000a and the possible detection of antiganglioside antibodies. The weakness reaches its nadir in 2–4 weeks: the patients may be\\u000a chair- or bed-bound, may need artificial ventilation and
A female aged 43 years presented with acute per vaginal bleeding since six days, severe thrombocytopenia and anaemia, she responded partially to platelets and blood transfusion initially. Four days later she started bleeding from nose, intravenous access sites, developed right sided hemiparesis and subsequently died. Her investigations were suggestive of Idiopathic Thrombocytopenia Purpura (ITP) and Autoimmune Haemolytic Anaemia (AIHA). So a diagnosis of Evan's syndrome was made. PMID:23029746
Abstract\\u000a \\u000a The surgical treatment of 30 cases of vascular thoracic outlet syndrome (TOS) in 25 patients is presented. Patients included\\u000a 17 women and 8 men with average age of 26.1 years. The causes of compression were cervical rib (n = 16), soft tissue anomalies (n = 12), and scar tissue after clavicle fracture (n = 2). Ten subclavian artery aneurysms
Lazar B. Davidovic; Dusan M. Kostic; Nenad S. Jakovljevic; Ilija L. Kuzmanovic; Tijana M. Simic
Zusammenfassung Das Shaken-baby-Syndrom (SBS) oder Schütteltrauma des Säuglings beschreibt die Koinzidenz subduraler Hämatome, retinaler Blutungen\\u000a und prognostisch ungünstiger, diffuser Hirnschäden durch heftiges Schütteln eines Säuglings. Die klinischen Symptome umfassen\\u000a Irritabilität, Trinkschwierigkeiten, Somnolenz, Apathie, zerebrale Krampfanfälle, Apnoe, Temperaturregulationsstörungen und\\u000a Erbrechen durch Hirndruck. Leichtere Symptome des SBS werden häufig nicht diagnostiziert, die Dunkelziffer ist wahrscheinlich\\u000a viel höher. Die Diagnose des SBS wird durch
A 35-day-old male infant with presumed shaken baby syndrome is reported. This first born child to mother educated upto middle\\u000a school and father tailor by occupation was brought from a remote village 180 kms away from JIPMER. Poor feeding, focal clonic\\u000a seizures were the initial symptoms. The fundus examination revealed fresh preretinal and vitreous hemorrhages. CT Brain showed\\u000a right sided
Landau-Kleffner syndrome is one of several language disorders associated with epilepsy or epileptiform abnormalities on EEG. Ultimately, these patients understand little or nothing of what they hear. Two thirds have behavioral abnormalities and close to 75% have seizures. Brain computerized tomography and MRI are normal, EEG changes show characteristic epileptiform changes. Antiepileptic drugs can easily control seizures, but language recovery is more difficult. Autoimmune etiology is considered likely and long-term prognosis remains variable. PMID:23377356
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The aim of this chapter is to review the classical manifestation of the disease and its differential diagnosis. PMID:22411255