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Sample records for adrenal hypoplasia congenita

  1. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    MedlinePlus

    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  2. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    MedlinePlus

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  3. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

    PubMed

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J

    2011-03-01

    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

  4. Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.

    PubMed

    Koh, Ji Won; Kang, So Young; Kim, Gu Hwan; Yoo, Han Wook; Yu, Jeesuk

    2013-06-01

    X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome). Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH) stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.

  5. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21

    SciTech Connect

    Worley, K.C.; Ellison, K.A.; Zhang, Y.H.; Wang, D.F.; Mason, J.; Roth, E.J.; Adams, V.; Fogt, D.D.; Zhu, X.M.; Towbin, J.A.

    1993-05-01

    The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. The authors developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, they have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene. 33 refs., 3 figs., 5 tabs.

  6. Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

    PubMed Central

    Galeotti, Caroline; Lahlou, Zineb; Goullon, Domitille; Sarda-Thibault, Hélène; Cahen-Varsaux, Juliette; Bignon-Topalovic, Joëlle; Bashamboo, Anu; McElreavey, Ken; Brauner, Raja

    2012-01-01

    Background Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis. Methods We analysed the evolution of hypothalamic-pituitary-testicular function of 8 boys with AHC due to NR0B1 mutations. Our objective was to characterize and monitor the progressive deterioration of this function. Results The first symptoms appeared in the neonatal period (n = 5) or between 6 months and 8.7 years (n = 3). Basal plasma adrenocorticotrophic hormone (ACTH) concentrations increased in all boys, whilst cortisol levels decreased in one case. The natremia was equal or below 134 mmol/L and kaliemia was over 5 mmol/L. All had increased plasma renin. In 3 of 4 patients diagnosed in the neonatal period and evaluated during the first year, the basal plasma gonadotropins concentrations, and their response to gonadotropin releasing hormone (GnRH) test (n = 2), and those of testosterone were normal. The plasma inhibin B levels were normal in the first year of life. With the exception of two cases these concentrations decreased to below the normal for age. Anti-Müllerian hormone concentrations were normal for age in all except one case, which had low concentrations before the initiation of testosterone treatment. In 3 of the 8 cases the gene was deleted and the remaining 5 cases carried frameshift mutations that are predicted to introduce a downstream nonsense mutation resulting in a truncated protein. Conclusions The decreases in testosterone and inhibin B levels indicated a progressive loss of testicular function in boys carrying NR0B1 mutations. These non-invasive examinations can help to estimate the age of the testicular degradation and cryopreservation of semen may be considered in these cases as investigational procedure with the aim of restoring fertility. PMID:22761912

  7. A Novel Missense Mutation in Dax-1 with an Unusual Presentation of X-Linked Adrenal Hypoplasia Congenita

    PubMed Central

    Ahmad, Imran; Paterson, Wendy F.; Lin, Lin; Adlard, Peter; Duncan, Philippa; Tolmie, John; Achermann, John C.; Donaldson, Malcolm D.C.

    2012-01-01

    A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal uncles had died soon after birth. A third uncle failed to thrive during infancy but improved with a course of cortisone, then being untreated until further investigation revealed adrenal insufficiency. A fourth uncle died aged 10 days, with urinary salt loss and hypoplastic adrenal glands at postmortem. Molecular studies on the proband, his mother, maternal grandmother, and surviving uncle showed a novel C to G substitution at nucleotide position 794 (missense mutation T265R) in the DAX1 (NR0B1) gene. The proband has responded well to steroid replacement but has proved sensitive to 9α-fludrocortisone treatment, developing hypertension on a dose of 133 μg/m2/day. At 8.8 years he was noted to have testicular volumes of 4 ml, despite no other evidence of secondary sexual development and prepubertal gonadotrophin levels. Novel features of this family include a novel DAX1 mutation, marked variability in age of presentation, hypertension on ‘standard’ doses of 9α-fludrocortisone and mild testicular enlargement. PMID:17308433

  8. X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes

    PubMed Central

    Rojek, Aleksandra; Krawczynski, Maciej R.; Jamsheer, Aleksander; Sowinska-Seidler, Anna; Iwaniszewska, Barbara; Malunowicz, Ewa

    2016-01-01

    X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. Laboratory studies showed prominent hyponatremia and hyperkaliemia but not hypoglycemia. Primary adrenal insufficiency was confirmed with low serum cortisol levels and high plasma ACTH levels. Hydrocortisone therapy combined with saline and glucose infusions was started immediately after blood collection. Two exons of the NR0B1 (DAX1) gene were impossible to amplify using the standard PCR method. Array CGH was used to confirm the putative copy-number variation of NR0B1 (DAX1) revealing a novel hemizygous deletion encompassing the entire NR0B1 (DAX1) gene together with the MAGEB genes. This genetic defect was also present in heterozygosity in the patient's mother. We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. We hope that further clinical follow-up of this patient and his family will shed a new light on the role of MAGEB genes. PMID:27656210

  9. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    PubMed

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  10. Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.

    PubMed

    Sasaki, Rie; Inamo, Yasuji; Saitoh, Kazumasa; Hasegawa, Tomonobu; Kinoshita, Eiichi; Ogata, Tsutomu

    2003-06-01

    We report on a 2 years and 9 months old Japanese boy with adrenal hypoplasia and mental retardation (MR) (developmental quotient approximately 60) which occurred in the absence of severe adrenal crisis and resultant brain damage. Cytogenetic and molecular studies were performed in this boy and his parents with normal phenotype, showing that the boy had a maternally derived approximately 2 Mb interstitial Xp deletion involving DAX1 (DSS-AHC critical region on the X chromosome, gene 1) for adrenal hypoplasia congenita and disrupting IL1RAPL (interleukin-1 receptor accessory protein-like) for non-specific MR. The results explain the development of MR in this boy in terms of contiguous gene syndrome, and suggest the importance of IL1RAPL analysis in patients with adrenal hypoplasia and MR.

  11. De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland

    SciTech Connect

    Chen, H.; Kusyk, C.J.; Tuck-Muller, C.M.

    1995-02-13

    We report on a black male child with congenital hypoplasia of the adrenal gland (CHA) with a de novo duplication of 5p (dir dup(5) (p13.3{r_arrow}p15.1)), confirmed by fluorescence in situ hybridization (FISH). In addition to a characteristic clinical course, the patient has hyperpigmentation (melanoderma) since birth, normal external genitalia, marked elevation of ACTH, and absent response to an IV ACTH challenge. To the best of our knowledge, this is the first case of congenital hypoplasia of the adrenal gland associated with a chromosome abnormality. Reviews of dup (5p) and of our patient suggest that duplication of 5p13.3-pter has only minor phenotypic effect, while duplication of the relatively small critical segment p11-p13.2 apparently causes far more deleterious changes. The concurrence of CHA and dup(5p) in our patient may indicate the possible gene localization of an autosomal form of CHA to either at or near 5p13.3 or 5p15.1. 25 refs., 3 figs.

  12. Dyskeratosis congenita.

    PubMed

    Drachtman, R A; Alter, B P

    1995-01-01

    Dyskeratosis congenita is a rare genodermatosis. Malignant deterioration and hematologic complications are well-described features of this syndrome. Correct recognition is essential for proper management. A review of diagnostic considerations and treatment guidelines is presented.

  13. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

    PubMed

    Peter, M; Viemann, M; Partsch, C J; Sippell, W G

    1998-08-01

    X-linked congenital adrenal hypoplasia (AHC) is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the DAX-1 gene, a recently discovered member of the nuclear hormone receptor superfamily. Hypogonadotropic hypogonadism is frequently associated with AHC. AHC occurs as part of a contiguous gene syndrome together with glycerol kinase deficiency (GKD) and Duchenne's muscular dystrophy. The present series, collected over the past 2 decades, includes 18 AHC boys from 16 families: 4 with AHC, GKD, and Duchenne's muscular dystrophy; 2 with AHC and GKD; and 12 with AHC (5 young adults with hypogonadotropic hypogonadism). Most of the boys presented with salt wasting and hyperpigmentation during the neonatal period. Plasma steroid determinations performed in the first weeks of life often showed confusing results, probably caused by steroids produced in the neonates' persisting fetocortex. Aldosterone deficiency usually preceded cortisol deficiency, which explains why the patients more often presented with salt-wasting rather than with hypoglycemic symptoms. An ACTH test was often necessary to detect cortisol deficiency in the very young infants. In some patients, serial testing was necessary to establish the correct diagnosis. In 4 boys studied during the first 3 months after birth, we found pubertal LH, FSH, and testosterone plasma levels indicating postnatal transient activation of the hypothalamic-pituitary-gonadal axis as in normal boys. Previous studies have shown that the DAX-1 gene is deleted in the AHC patients with a contiguous gene syndrome and is mutated in nondeletion patients. Most of the point mutations identified in AHC patients were frameshift mutations and stop mutations. In the 15 patients available for molecular analysis of the DAX-1 gene, there were large deletions in 6 patients and point mutations in another 7 patients. All of the point mutations identified in the present study resulted in a nonfunctional

  14. Genetics Home Reference: dyskeratosis congenita

    MedlinePlus

    ... body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), and ... Testing Registry: Dyskeratosis congenita autosomal recessive 1 Genetic Testing Registry: Dyskeratosis congenita X-linked ... Care Surgery and Rehabilitation ...

  15. Erythroblastic Hypoplasia

    PubMed Central

    Smiley, R. K.

    1964-01-01

    Three patients with erythroblastic hypoplasia were observed for prolonged periods. In one patient, the phenomenon recurred on three occasions over a 12-year period. In the second, erythroblastic hypoplasia accompanied acute hemolytic anemia of the autoimmune type. The third patient had congenital erythroblastic hypoplasia which was observed for 14 years without remission. From the prolonged periods of observation of these three patients, it is concluded that the phenomenon of erythroblastic hypoplasia may develop abruptly, persist for variable periods of time, remit spontaneously and recur unpredictably. A total of four remissions observed in two patients were believed to be spontaneous and not a result of any of the forms of treatment administered. No remission has occurred in a 14-year-old boy with congenital erythroblastic hypoplasia. A classification of erythroblastic hypoplasia is proposed, based on the clinical circumstances in which the phenomenon has been encountered. ImagesFig. 1Fig. 2Fig. 3Fig. 4 PMID:14155120

  16. Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.

    PubMed

    Koh, Ji Won; Kim, Gu Hwan; Yoo, Han Wook; Yu, Jeesuk

    2013-11-01

    Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.

  17. Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

    PubMed Central

    Koh, Ji Won; Kim, Gu Hwan; Yoo, Han Wook

    2013-01-01

    Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency. PMID:24265530

  18. Hypertrichosis lanuginosa congenita.

    PubMed

    Mendiratta, Vibhu; Harjai, Bhawna; Gupta, Tanvi

    2008-01-01

    Hypertrichosis lanuginosa congenita is a rare, autosomal dominant cutaneous disorder with sporadic presentations reported. It manifests at birth with the affected infant presenting with excessive lanugo hair covering the entire body surface, sparing palms, soles, and mucous membranes. The hypertrichosis may increase or decrease during childhood, but the lanugo character of hairs may be retained even after puberty. The disorder may be associated with several other congenital defects. We report a case of hypertrichosis lanuginosa congenita in a male infant who presented to us at 3 months of age with the classical features of the disorder but without any other associated congenital defect.

  19. Prenatal diagnosis of hypophosphatasia congenita using ultrasonography

    PubMed Central

    2016-01-01

    Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple. PMID:25971898

  20. [Cerebellar hypoplasias].

    PubMed

    Safronova, Marta Maia; Barbot, Clara; Resende Pereira, Jorge

    2010-01-01

    Cerebellar hypoplasias are cerebellar malformations with small but completely formed cerebellum. They can be divided in focal and in diffuse or generalized. It is sometimes difficult to make distinction between cerebellar atrophy (progressive condition) and hipoplasia (not progressive condition). Focal hypoplasias are restricted to one cerebellar hemisphere or to the vermis. Diffuse hypoplasias refer to both cerebellar hemispheres and vermis. If there is associated IVth ventricle enlargement, hypoplasias occur in the context of Dandy-Walker complex, a continuum of posterior fossa cystic anomalies. A revision of cerebellar hypoplasias and associated pathology is done, illustrated with 22 cases tha include focal and diffuse cerebellar hypoplasias, Dandy-Walker malformations and its variant, persistent Blake's pouch cyst, megacisterna magna, PEHO síndrome (progressive encephalopathy with oedema, hipsarrhythmia and optic atrophy), Joubert syndrome, congenital disorder of glycosylation type Ia, pontocerebellar hipoplasias Barth type I and II, diffuse subcortical heterotopia. The imaging finding of structural cerebellar anomalies frequently leads to diagnostic incertainty as the anomalies are mostly unspecific, implying an extenuating analytical and genetic workup. Their knowledge and classification may be useful to decide the patient adjusted laboratorial workup.

  1. Pachyonychia congenita with unusual features.

    PubMed

    Balasubramanian, S; Kaarthigeyan, K; Ramnath, B

    2009-10-01

    Pachyonychia congenita is a rare hereditary disorder characterized by gross thickening of all finger and toenails. We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.

  2. Genetics Home Reference: pachyonychia congenita

    MedlinePlus

    ... Pachyonychia Congenita McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of ... 10.1001/jamadermatol.2013.6448. Citation on PubMed Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill ...

  3. Arthrogryposis multiplex congenita

    PubMed Central

    Bharucha, E. P.; Pandya, S. S.; Dastur, Darab K.

    1972-01-01

    Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle weakness noted earlier, with no appreciable deterioration. Images PMID:5049804

  4. Cancer in dyskeratosis congenita

    PubMed Central

    Giri, Neelam; Savage, Sharon A.; Rosenberg, Philip S.

    2009-01-01

    Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this disorder of telomere biology has not been described. There were more than 500 cases of DC reported in the literature from 1910 to 2008; the National Cancer Institute (NCI) prospective DC cohort enrolled 50 cases from 2002 to 2007. Sixty cancers were reported in 52 literature cases, while 7 occurred among patients in the NCI DC cohort. The 2 cohorts were comparable in their median overall survival (42 years) and cumulative incidence of cancer (40%-50% by age 50 years). The most frequent solid tumors were head and neck squamous cell carcinomas (40% of patients in either cohort), followed by skin and anorectal cancer. The ratio of observed to expected cancers (O/E ratio) in the NCI cohort was 11-fold compared with the general population (P < .05). Significantly elevated O/E ratios were 1154 for tongue cancer and 195 for acute myeloid leukemia. Survival after bone marrow transplantation for aplastic anemia or leukemia was poor in both cohorts. The frequency and types of cancer in DC are surpassed only by those in Fanconi anemia (FA), indicating that FA and DC have similarly high risks of adverse hematologic and neoplastic events, and patients with these diseases should be counseled and monitored similarly. PMID:19282459

  5. Congenital optic tract hypoplasia.

    PubMed

    Hatsukawa, Yoshikazu; Fujio, Takahiro; Nishikawa, Masanori; Taylor, David

    2015-08-01

    We report a case of isolated unilateral optic tract hypoplasia, described only twice previously. Bilateral optic disk hypoplasia was seen ophthalmoscopically and visual field studies showed an incongruous right homonymous hemianopia. Magnetic resonance imaging showed bilateral hypoplasia of both optic nerves and the left optic tract. Spectral domain optical coherence tomography mapping correlated well with the visual field studies.

  6. Bilateral Maxillary Sinus Hypoplasia

    PubMed Central

    Khanduri, Sachin; Agrawal, Sumit; Goyal, Swati

    2014-01-01

    Maxillary sinus hypoplasia (MSH) is an uncommon abnormality of paranasal sinuses noted in clinical practice. Computed tomography (CT) scan helps in diagnosing the anomaly along with any anatomical variation that may be associated with it. MSH is usually associated with other anomalies like uncinate process hypoplasia. Three types of MSH have been described. Type 1 MSH shows mild maxillary sinus hypoplasia, type 2 shows significant sinus hypoplasia with narrowed infundibular passage and hypoplastic or absent uncinate process, and type 3 is cleft like maxillary sinus hypoplasia with absent uncinate process. CT and endoscopic examination usually complement each other in diagnosing MSH. PMID:25548709

  7. Chronological hypoplasia: aesthetic management

    PubMed Central

    Jayam, Cheranjeevi; Bandlapalli, Anila; Patel, Nikunj; Choudhary, Rama Shankar Kashinath

    2014-01-01

    Enamel hypoplasia is defined as a break in the continuity of enamel with a reduction in the layers leading to depressions or grooves. Chronological hypoplasia is differentiated from other forms of hypoplasia due to its characteristic presentation (multiple, symmetrical, chronological pattern). Chronological hypoplasias are seen at the time tooth erupts into the oral cavity leading to several problems like aesthetic problems, tooth sensitivity, caries and early pulpal involvement. Prevention of interaction of aetiological factors is not possible because multiple factors are required for enamel synthesis. This paper highlights how to diagnose, intercept and treat chronological hypoplasias. It also mentions reasons for treating a case and different modalities available. PMID:24907208

  8. Faun tail nevus with aplasia cutis congenita.

    PubMed

    Chander, Ram; Jain, Arpita; Jaykar, Kranti; Garg, Taru; Anand, Rama

    2009-01-01

    Faun tail nevus describes abnormal lumbar hypertrichosis, which may overlie on occult spinal abnormality and be a marker of asymptomatic underlying spinal dysraphism. We report a case of faun tail nevus, with dermal pits along with aplasia cutis congenita and asymptomatic spina bifida occulta, tethered conus, and diastematomyelia, a constellation of findings which to our knowledge has not been previously reported.

  9. Cartilage hair hypoplasia.

    PubMed Central

    Siggers, D. C.; Burke, J. B.; Morris, B.; Normand, I. C.; Tanner, J. M.; Williamson, D. A.

    1977-01-01

    Six cases of cartilage hair hypoplasia from five kindreds are described. They demonstrate variation in the expression of clinical features such as sparsity of hair, hair calibre, radiological changes, short stature and the extent of the disproportion between sitting height and stature. Images Figs. 1-6 Fig. 7 Fig. 8 Fig. 9 Fig. 10 PMID:917962

  10. Isolated aglossia congenita: A rare case of oromandibular limb hypogenesis syndrome type I B

    PubMed Central

    Gupta, Shalini R

    2012-01-01

    Aglossia congenita (AC), congenital total absence of the tongue, is a very rare midline developmental anomaly, hypothesized to be associated with vascular disruption between the fourth and eighth week of gestation. It was classified by Hall (1971) as part of oromandibular limb hypogenesis syndrome (OLHS) type I B. Most of the cases reported with OLHS are actually hypoglossia with limb abnormalities whereas isolated aglossia is an extremely rare entity. A case of isolated AC is presented in a 28-year-old Indian male. He had long narrow face, tapering chin, low set ears, and microstomia. Intraorally, he had narrow palatal vault, constricted oropharyngeal isthmus, oligodontia, and maxillo-mandibular hypoplasia. Interestingly, the patient showed a median palatal groove, which has not been reported before. He also had an unusual acquired adaptive mechanism to compensate for aglossia. This report presents the manifestations of this rare syndrome, its complications, differential diagnosis, and rehabilitation strategies. PMID:23248477

  11. Adrenal cortex dysfunction: CT findings

    SciTech Connect

    Huebener, K.H.; Treugut, H.

    1984-01-01

    The computed tomographic appearance of the adrenal gland was studied in 302 patients with possible endocrinologic disease and 107 patients undergoing CT for nonendocrinologic reasons. Measurements of adrenal size were also made in 100 adults with no known adrenal pathology. CT proved to be a sensitive diagnostic tool in combination with clinical studies. When blood hormone levels are increased, CT can differentiate among homogeneous organic hyperplasia, nodular hyperplasia, benign adenoma, and malignant cortical adenoma. When blood hormone levels are decreased, CT can demonstrate hypoplasia or metastatic tumorous destruction. Calcifications can be demonstrated earlier than on plain radiographs. When hormone elimination is increased, the morphologic substrate can be identified; tumorous changes can be localized and infiltration of surrounding organs recognized.

  12. Prenatal prediction of pulmonary hypoplasia.

    PubMed

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  13. Adrenal glands

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/002219.htm Adrenal glands To use the sharing features on this page, please enable JavaScript. The adrenal glands are two triangle-shaped glands. One gland is ...

  14. Genetics Home Reference: lissencephaly with cerebellar hypoplasia

    MedlinePlus

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  15. Genetics Home Reference: focal dermal hypoplasia

    MedlinePlus

    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  16. Genetics Home Reference: Leydig cell hypoplasia

    MedlinePlus

    ... Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Leydig cell hypoplasia is a condition that affects male sexual development. ...

  17. Adrenal insufficiency.

    PubMed

    Auron, Moises; Raissouni, Nouhad

    2015-03-01

    Adrenal insufficiency is a life-threatening condition that occurs secondary to impaired secretion of adrenal glucocorticoid and mineralocorticoid hormones. This condition can be caused by primary destruction or dysfunction of the adrenal glands or impairment of the hypothalamic-pituitary-adrenal axis. In children, the most common causes of primary adrenal insufficiency are impaired adrenal steroidogenesis (congenital adrenal hyperplasia) and adrenal destruction or dysfunction (autoimmune polyendocrine syndrome and adrenoleukodystrophy), whereas exogenous corticosteroid therapy withdrawal or poor adherence to scheduled corticosteroid dosing with long-standing treatment constitute the most common cause of acquired adrenal insufficiency. Although there are classic clinical signs (eg, fatigue, orthostatic hypotension, hyperpigmentation, hyponatremia, hyperkalemia, and hypoglycemia) of adrenal insufficiency, its early clinical presentation is most commonly vague and undefined, requiring a high index of suspicion. The relevance of early identification of adrenal insufficiency is to avoid the potential lethal outcome secondary to severe cardiovascular and hemodynamic insufficiency. The clinician must be aware of the need for increased corticosteroid dose supplementation during stress periods.

  18. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  19. Dermoscopic Findings of Scalp Aplasia Cutis Congenita

    PubMed Central

    Damiani, Leandro; Aguiar, Fernanda Musa; da Silva, Mariana Vale Scribel; Miteva, Mariya I.; Pinto, Giselle Martins

    2017-01-01

    Aplasia cutis congenita (ACC) is a rare disease characterized by congenital absence of skin, affecting preferentially the scalp. Diagnosis is made clinically; however, recent studies have shown that dermoscopy can be a useful tool for the diagnosis and differentiation from sebaceous nevus. The clinical findings include a shiny atrophic alopecic patch associated with dermoscopic findings of absent follicular openings, thicker vessels and a distinct collar hypertrichosis. We report 2 cases of alopecia presenting from birth. At dermoscopy, the absence of follicular openings and the increase in the caliber of vessels led us to establish the diagnosis of ACC. PMID:28232928

  20. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

    PubMed Central

    Sucuoglu, Hamza; Ornek, Nurettin Irem; Caglar, Cagkan

    2015-01-01

    Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by musculoskeletal physicians in newborns with multiple joint contractures and patients must begin rehabilitation in early stage after accurate diagnosis in terms of functional independence. We present the diagnosis, types, clinical features, and treatment approaches of this disease in our case with literature reviews. PMID:26604929

  1. Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report

    PubMed Central

    2009-01-01

    Introduction Dyskeratosis congenita is a rare genodermatosis, characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. It is also associated with a variety of non-cutaneous abnormalities such as bone marrow failure, malignancy and pulmonary complications. Among its wide range of clinical manifestations, fatal pneumothorax has rarely been reported. Case presentation We report the case of a 31-year-old Lebanese woman with dyskeratosis congenita who succumbed to devastating bilateral pneumothoraces. Conclusion Careful surveillance of patients with dyskeratosis congenita is required as incipient respiratory failure due to pneumothorax may be successfully treated if detected at an early stage. PMID:19830116

  2. Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting.

    PubMed

    O'Toole, E A; Kaspar, R L; Sprecher, E; Schwartz, M E; Rittié, L

    2014-11-01

    This is a report of the research presented at the 11th Annual Meeting of the International Pachyonychia Congenita Consortium, held on 6 May 2014 in Albuquerque, NM, U.S.A. This year's meeting was divided into five corners concerning pachyonychia congenita (PC) research: (i) 'PC Pathogenesis Cornered', an overview of recent keratin research, for PC and other skin disorders; (ii) 'From All Corners of …', an outline of other genetic disorders that we can learn from; (iii) 'Fighting For Our Corner', an outline of National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Diseases programmes and U.S. funding opportunities applicable to rare skin disorders; (iv) 'The PC Corner', focusing on recent clinical studies related to PC; and (v) 'Clinical Corners: Turning the Corner?', an update on ongoing PC clinical trials.

  3. Common Variable Immunodeficiency as the initial presentation of Dyskeratosis Congenita

    PubMed Central

    Allenspach, Eric J.; Bellodi, Cristian; Jeong, David; Kopmar, Noam; Nakamura, Tomoka; Ochs, Hans D.; Ruggero, Davide; Skoda-Smith, Suzanne; Shimamura, Akiko; Torgerson, Troy R.

    2013-01-01

    Short Summary We present a case highlighting the clinical overlap between Common Variable Immunodeficiency (CVID) and Dyskeratosis Congenita (DC). It demonstrates that DC may initially present as an isolated humoral immunodeficiency resembling CVID. PMID:23403051

  4. Adrenal Insufficiency

    MedlinePlus

    ... three types of steroid hormones. In adrenal insufficiency (AI), the cortex does not make enough steroid hormones. ... unlike “adrenal fatigue.” There are two kinds of AI: • Primary AI, also called Addison’s disease. In this ...

  5. Diagnosing arthrogryposis multiplex congenita: a review.

    PubMed

    Kalampokas, Emmanouil; Kalampokas, Theodoros; Sofoudis, Chrisostomos; Deligeoroglou, Efthymios; Botsis, Dimitrios

    2012-01-01

    Arthrogryposis multiplex congenita (AMC) refers either to a syndromic or to a nonsyndromic group of conditions with varied etiology and complex clinical features, including multiple congenital contractures in different body areas. Its etiology still remains unclear but generally any cause that leads to reduced fetal movement may lead to congenital contractures and in severe cases to fetal akinesia deformation sequence (FADS). It affects approximately 1 in 2-3000 live births with an approximately equal gender ratio. There are many known subgroups of AMC differing in signs, symptoms, and causes. The primary diagnosis is made when a lack of mobility and an abnormal position is noted in routine ultrasound scanning. Early diagnosis, prenatal evaluation, and further surveillance via image scanning (ultrasound and MRI) give the opportunity for family counseling concerning neonatal morbidity and mortality and labor or delivery planning. Better understanding of the ultrasound findings and the etiology of this clinical situation offers the opportunity for careful prenatal assessment.

  6. [A 2-month-old child with complex tracheal hypoplasia].

    PubMed

    De Cloedt, L; Papadopoulos, J; Corouge, P; Khalil, T; Van Laer, P

    2013-12-01

    We describe the case of a 2-month-old child with complex tracheal hypoplasia with bilateral bronchial hypoplasia and left pulmonary hypoplasia. Tracheal hypoplasia is complex when it is associated with critical stenosis, cricoid stenosis, bronchial hypoplasia, tracheal bronchus, or esophageal atresia with severe tracheomalacia. Slide tracheoplasty is the gold standard treatment for the complex tracheal hypoplasia.

  7. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

    PubMed

    Ballew, Bari J; Yeager, Meredith; Jacobs, Kevin; Giri, Neelam; Boland, Joseph; Burdett, Laurie; Alter, Blanche P; Savage, Sharon A

    2013-04-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure and cancer predisposition syndrome caused by aberrant telomere biology. The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation. Germline mutations in telomere biology genes account for approximately one-half of known DC families. Using exome sequencing, we identified mutations in RTEL1, a helicase with critical telomeric functions, in two families with HH. In the first family, two siblings with HH and very short telomeres inherited a premature stop codon from their mother who has short telomeres. The proband from the second family has HH and inherited a premature stop codon in RTEL1 from his father and a missense mutation from his mother, who also has short telomeres. In addition, inheritance of only the missense mutation led to very short telomeres in the proband's brother. Targeted sequencing identified a different RTEL1 missense mutation in one additional DC proband who has bone marrow failure and short telomeres. Both missense mutations affect the helicase domain of RTEL1, and three in silico prediction algorithms suggest that they are likely deleterious. The nonsense mutations both cause truncation of the RTEL1 protein, resulting in loss of the PIP box; this may abrogate an important protein-protein interaction. These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC.

  8. The genetic basis of pachyonychia congenita.

    PubMed

    Smith, Frances J D; Liao, Haihui; Cassidy, Andrew J; Stewart, Arlene; Hamill, Kevin J; Wood, Pamela; Joval, Iris; van Steensel, Maurice A M; Björck, Erik; Callif-Daley, Faith; Pals, Gerald; Collins, Paul; Leachman, Sancy A; Munro, Colin S; McLean, W H Irwin

    2005-10-01

    In 1994, the molecular basis of pachyonychia congenita (PC) was elucidated. Four keratin genes are associated with the major subtypes of PC: K6a or K16 defects cause PC-1; and mutations in K6b or K17 cause PC-2. Mutations in keratins, the epithelial-specific intermediate filament proteins, result in aberrant cytoskeletal networks which present clinically as a variety of epithelial fragility phenotypes. To date, mutations in 20 keratin genes are associated with human disorders. Here, we review the genetic basis of PC and report 30 new PC mutations. Of these, 25 mutations were found in PC-1 families and five mutations were identified in PC-2 kindreds. All mutations identified were heterozygous amino acid substitutions or small in-frame deletion mutations with the exception of an unusual mutation in a sporadic case of PC-1. The latter carried a 117 bp duplication resulting in a 39 amino acid insertion in the 2B domain of K6a. Also of note was mutation L388P in K17, which is the first genetic defect identified in the helix termination motif of this protein. Understanding the genetic basis of these disorders allows better counseling for patients and paves the way for therapy development.

  9. [Adrenal mass and adrenal insufficiency].

    PubMed

    Martínez Albaladejo, M; García López, B; Serrano Corredor, S; Alguacil García, G

    1996-12-01

    Primary adrenal insufficiency is a non frequent disease, that is declared in young adults and in the most of the cases is produced from an autoimmune mechanism or a tuberculous disease. The incidence of these forms in the different geographic areas is dependent of degree of irradication of the tuberculosis. We report the case of a patient with latent chronic adrenal insufficiency of tuberculous origin who was affected for an addisonian crisis during an intercurrent infectious disease, which permitted the diagnosis of the addisonian crisis, and Mal of Pott was moreover detected. Evolution with corticosteroid and specific treatment was very favorable.

  10. Optic nerve hypoplasia in children.

    PubMed Central

    Zeki, S. M.; Dutton, G. N.

    1990-01-01

    Optic nerve hypoplasia (ONH) is characterised by a diminished number of optic nerve fibres in the optic nerve(s) and until recently was thought to be rare. It may be associated with a wide range of other congenital abnormalities. Its pathology, clinical features, and the conditions associated with it are reviewed. Neuroendocrine disorders should be actively sought in any infant or child with bilateral ONH. Early recognition of the disorder may in some cases be life saving. Images PMID:2191713

  11. MR findings in pontocerebellar hypoplasia.

    PubMed

    Uhl, M; Pawlik, H; Laubenberger, J; Darge, K; Baborie, A; Korinthenberg, R; Langer, M

    1998-07-01

    We present four cases with combined hypoplasia of the cerebellum and the ventral pons-pontocerebellar hypoplasia (PCH). PCH represents an autosomal recessive neurodegenerative disorder with fetal onset. The disease is rare, with less than 20 cases having been reported. The main findings of PCH and the inclusion criteria for our cases can be summarised as progressive microcephaly from birth, pontocerebellar hypoplasia documented by MRI and marked chorea, which may change, later in childhood, to more dystonic patterns. The cerebral cortex becomes progressively atrophic. Motor and mental development are delayed, and epilepsy, mainly tonic-clonic seizures, is frequent. The MRI features in all of our cases were: (1) Hypoplastic cerebellum situated close to the tentorium. The hypoplastic cerebellum has a reduced number of folia, in contrast to the normal number of thin folia in simple cerebellar atrophy. (2) The cerebellar hemispheres are reduced to bean-like or wing-like structures. The cerebellar hemispheres appear to 'float' in the posterior fossa. (3) Markedly hypoplastic ventral pons. (4) Slight atrophy of the supratentorial gyral pattern. (5) Dilated cerebromedullary cistern and fourth ventricle. (6) Delayed myelination of the white matter. (7) No significant disorganisation of brain architecture and no severe corpus callosum defect.

  12. Almost Unilateral Focal Dermal Hypoplasia

    PubMed Central

    Lee, Solam; Choe, Sung Jay

    2017-01-01

    Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly. PMID:28223754

  13. Hypertrichosis lanuginosa congenita treated with diode laser epilation during infancy.

    PubMed

    Salas-Alanis, Julio C; Lopez-Cepeda, Larissa D; Elizondo-Rodriguez, Aurora; Morales-Barrera, Maria Enriqueta; Ramos-Garibay, Alberto R

    2014-01-01

    We report the case of a girl with hypertrichosis lanuginosa congenita treated with diode laser depilation since the age of 9 months. The treatment was well tolerated, and neither general nor local anesthesia was needed. A reduction of approximately 80% of facial and body hair was noted, which improved her condition significantly.

  14. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    MedlinePlus

    ... Conditions VLDLR-associated cerebellar hypoplasia VLDLR-associated cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description VLDLR -associated cerebellar hypoplasia is an inherited condition that affects the development ...

  15. Embryological and molecular development of the adrenal glands.

    PubMed

    Ross, Ian L; Louw, Graham J

    2015-03-01

    In this mini review, the embryological and functional development of the adrenal glands is presented from a molecular perspective. While acknowledging that this is a highly complex series of events, the processes are described in simple and broad strokes in a single text for the reader who is interested in this field but is not an active researcher. The origin of the adrenal glands is in the mesodermal ridge as early as the fourth week of gestation. Between the eighth and ninth weeks of gestation, the adrenal glands are encapsulated and this results in the presence of a distinct organ. There have been great strides in deciphering the very complicated molecular aspects of adrenal gland development in which multiple transcription factors have been identified, directing the adrenogonadal primordium into the adrenal cortex, kidney, or bipotential gonad. Adrenocorticotrophic hormone is critical for early development of the hypothalamic-pituitary adrenal axis. Several mutations in transcription factors, responsible for normal adrenal gland development have been found to induce the familial syndrome of congenital adrenal hypoplasia or neoplasia.

  16. POT of gold: modeling dyskeratosis congenita in the mouse

    PubMed Central

    Autexier, Chantal

    2008-01-01

    Dyskeratosis congenita (DC) is a rare syndrome, characterized by cutaneous abnormalities and premature death caused by bone marrow failure. In this issue of Genes & Development, Hockemeyer and colleagues (pp. 1773–1785) report a new mouse model that reconstitutes key features of DC. Disease phenotypes are generated by a POT1b deletion in a telomerase-deficient background that accelerates the shortening of telomeres by degradation. PMID:18593874

  17. Maxillofacial implications and surgical treatment of arthrogryposis multiplex congenita.

    PubMed

    Thomas, J A; Chiu-Yeh, M; Moriconi, E S

    2001-07-01

    A case of arthrogryposis multiplex congenita that affected a patient's temporomandibular joint is described. Preoperatively, the patient's interincisal opening was limited to 9 mm. Elective surgery was performed, which consisted of bilateral coronoidotomies, right and left meninscectomies, capsular release, and lateral pterygoid myotomies. Physical therapy was initiated postoperatively. Eighteen weeks after the surgery, the patient was able to open 18 mm and force open to 20 mm. The patient also noted significant improvement in speech and jaw function in the postoperative period.

  18. Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.

    PubMed

    Rittié, L; Kaspar, R L; Sprecher, E; Smith, F J D

    2017-03-27

    The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S.A., is reported here.

  19. Adrenal gland disorders.

    PubMed

    Berry, Matthew E

    2009-01-01

    Medical imaging of the adrenal glands is an important aspect of the diagnosis of any adrenal gland disorder. This article discusses the normal anatomy and functions of the adrenal glands, as well as specific adrenal gland disorders and how they are diagnosed and treated. Radiologic technologists need to understand the causes, signs, symptoms, diagnosis and management of disorders that prevent the adrenal glands from functioning properly.

  20. A rare case of type 1 diabetes mellitus with pituitary hypoplasia.

    PubMed

    Pinto, Jostol; Sudeep, K; Venkatesha, B M

    2014-01-01

    Growth failure and pubertal abnormalities are not uncommon in chronic uncontrolled metabolic diseases like diabetes mellitus. We present a young girl with uncontrolled type 1 diabetes mellitus, who presented with short stature and primary amenorrhea, and on evaluation was found to have anterior pituitary hypoplasia. In addition to uncontrolled diabetes mellitus, she presented with early onset growth failure and lack of spontaneous secondary sexual characteristics. She had central hypothyroidism and inappropriately normal gonadotropin levels. However her serum cortisol levels were normal. MRI of the sellar-suprasellar region revealed a small anterior pituitary gland with thinning of the pituitary stalk consistent with pituitary hypoplasia. While uncontrolled type 1 diabetes itself may cause growth retardation and pubertal abnormalities, this girl had coexisting pituitary maldevelopment - a rare co-existence of two major illnesses of unrelated etiologies. The partial pituitary hormonal deficiency, which spared the hypothalamo-pituitary-adrenal axis, may be due to a transcription factor defect.

  1. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    PubMed Central

    Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patıroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet

    2016-01-01

    Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the underlying genetic basis in patients presenting with features of dyskeratosis congenita and who were negative for mutations in the classical dyskeratosis congenita genes. By whole exome and targeted sequencing, we identified biallelic variants in genes that are not associated with dyskeratosis congenita in 17 individuals from 12 families. Specifically, these were homozygous variants in USB1 (8 families), homozygous missense variants in GRHL2 (2 families) and identical compound heterozygous variants in LIG4 (2 families). All patients had multiple somatic features of dyskeratosis congenita but not the characteristic short telomeres. Our case series shows that biallelic variants in USB1, LIG4 and GRHL2, the genes mutated in poikiloderma with neutropenia, LIG4/Dubowitz syndrome and the recently recognized ectodermal dysplasia/short stature syndrome, respectively, cause features that overlap with dyskeratosis congenita. Strikingly, these genes also overlap in their biological function with the known dyskeratosis congenita genes that are implicated in telomere maintenance and DNA repair pathways. Collectively, these observations demonstrate the marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. This has important implications for establishing a genetic diagnosis when a new patient presents in the clinic. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. PMID:27612988

  2. Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report.

    PubMed

    Nishi, Tomo; Yukawa, Eiichi; Taoka, Toshiaki; Ogata, Nahoko

    2013-01-01

    Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre- and post-chiasmal abnormalities.

  3. Unilateral Pulmonary Hypoplasia in a Child.

    PubMed

    Dewan, G

    2015-01-01

    Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

  4. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    PubMed Central

    Turcu, Adina F.; Auchus, Richard J.

    2015-01-01

    Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD. PMID:26038201

  5. How Is Adrenal Surgery Performed?

    MedlinePlus

    HOME ADRENAL GLANDS Background Where are the adrenal glands? What do the adrenal glands do? Is this adrenal tumor a genetic problem? Primary hyperaldosteronism (aldosterone-producing tumor) What is primary hyperaldosteronism? Signs ...

  6. Aplasia Cutis Congenita of the Scalp with a Familial Pattern

    PubMed Central

    AlShehri, Waleed; AlOthri, Alhanouf; Alabdulkarim, Abdulaziz O.; Wani, Shabeer A.; Rabah, Sari M.

    2016-01-01

    Aplasia Cutis Congenita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16-day-old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient was managed conservatively until the defect has formed scar tissue 6 months later. PMID:27429826

  7. Subsidiary lateral femoral condyle in arthrogryposis multiplex congenita.

    PubMed

    Schopler, S A; Menelaus, M B

    1987-01-01

    A previously undescribed anomaly of the distal femur occurred in a 3-month-old child with arthrogryposis multiplex congenita. There was a large boss of bone superior and posterior to the true lateral femoral condyle with which the lateral tibial femoral condyle articulated. To obtain full extension of the knee, it was necessary to perform a full posterior release and to replace the tibial condyle distally onto the true lateral condyle. The etiology of the anomaly remains conjectural, but the lesion should be sought for in patients with resistant flexion contracture requiring surgical release.

  8. Adrenal Gland Cancer

    MedlinePlus

    ... either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are ... and may not require treatment. Malignant adrenal gland cancers are uncommon. Types of tumors include Adrenocortical carcinoma - ...

  9. Adrenal Gland Disorders

    MedlinePlus

    The adrenal glands are small glands located on top of each kidney. They produce hormones that you can't live ... stress and has many other important functions. With adrenal gland disorders, your glands make too much or not ...

  10. Adrenal Gland Tumors: Statistics

    MedlinePlus

    ... Gland Tumor: Statistics Request Permissions Adrenal Gland Tumor: Statistics Approved by the Cancer.Net Editorial Board , 03/ ... primary adrenal gland tumor is very uncommon. Exact statistics are not available for this type of tumor ...

  11. Laparoscopic Adrenal Gland Removal

    MedlinePlus

    ... malignant. Laparoscopic Adrenal Gland Removal What are the Advantages of Laparoscopic Adrenal Gland Removal? In the past, ... of procedure and the patients overall condition. Common advantages are: Less postoperative pain Shorter hospital stay Quicker ...

  12. Neuropathologic features of pontocerebellar hypoplasia type 6.

    PubMed

    Joseph, Jeffrey T; Innes, A Micheil; Smith, Amanda C; Vanstone, Megan R; Schwartzentruber, Jeremy A; Bulman, Dennis E; Majewski, Jacek; Daza, Ray A; Hevner, Robert F; Michaud, Jean; Boycott, Kym M

    2014-11-01

    Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and cerebellum. The rarity and genetic heterogeneity of this group of disorders can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, were hypotonic at birth, developed seizures, had repeated apneic spells, and died within 2 months of life. Neuroimaging showed that all had profound cerebellar hypoplasia and simplified cortical gyration. Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. The basis pontis showed regressive changes, and the medulla had marked inferior olivary hypoplasia. The brains of both twins were microencephalic and had simplified gyri; cortices were immature, and deep white matter had extensive astrocytosis. The findings suggest a near-normal embryologic period followed by midgestation developmental slowing or cessation and later regression in select anatomic regions. This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment.

  13. Clinical characteristics of high grade foveal hypoplasia.

    PubMed

    Park, Kyung-Ah; Oh, Sei Yeul

    2013-02-01

    To report clinical characteristics of high grade foveal hypoplasia. Patients with foveal hypoplasia of grade 3 or 4 on spectral domain optical coherence tomography according to a previously published scheme were enrolled. All patients underwent a full ophthalmologic assessment including visual acuity testing, slit lamp biomicroscopy, fundus examination, and evaluation of ocular alignment. The underlying causes of foveal hypoplasia were identified as albinism in five patients and aniridia in six patients. The mean logMAR visual acuity was 0.57 ± 0.24 (range 0.22-1.00) in the right eyes and 0.58 ± 0.21 (range 0.30-1.00) in the left eyes. On fundus examination in patients with albinism, two patients showed marked transparency, one patient showed moderate transparency, and two patients showed minimal transparency. Among six patients with aniridia, five patients showed normal macular pigmentation without macular reflex and one patient showed decreased macular pigmentation with no macular reflex. Patients with high grade macular hypoplasia tended to have poor visual acuities; however, the range of visual acuity was quite variable. Other factors associated with underlying disease could be the reason of this variability. Therefore, careful consideration should be given when assessing visual prognosis in foveal hypoplasia using optical coherence tomography.

  14. Bilateral adrenal non-Hodgkin's lymphoma with adrenal insufficiency

    PubMed Central

    Ellis, R; Read, D

    2000-01-01

    A 74 year old women presented with lethargy and weight loss and was found to have profound adrenal insufficiency and bilateral adrenal mass lesions. Histological examination revealed non-Hodgkin's lymphoma. There was no evidence of lymphoma outside the adrenal glands. Isolated bilateral adrenal masses may rarely be due to primary adrenal non-Hodgkin's lymphoma, which is often associated with adrenal insufficiency.


Keywords: lymphoma; adrenal insufficiency PMID:10908383

  15. Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome.

    PubMed

    Hsieh, Chih-Wei; Wu, Yu-Hung; Lin, Shuan-Pei; Peng, Chun-Chih; Ho, Che-Sheng

    2012-01-01

    SCALP syndrome is an acronym describing the coincidence of sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus). We present a fourth case of this syndrome.

  16. Dental enamel hypoplasias in prehistoric populations.

    PubMed

    Goodman, A H

    1989-09-01

    Recent years have witnessed an impressive increase in research on enamel hypoplasias in archaeological populations. By reviewing a series of studies of enamel hypoplasias at Dickson Mounds, Illinois, North America (950-1300 A.D.), a prehistoric site involved in the transition from gathering-hunting to agriculture, this paper provides an illustration of this type of research. The location of linear hypoplasias on labial tooth surfaces of 111 adults was studied with a thin-tipped caliper, and this location was converted to an age at development. Most defects developed between two and four years of developmental age. Hypoplasias increased in prevalence from 45% in the pre-agriculture group to 80% in the agricultural group (p less than 0.01). The transition to agriculture occurred at a cost to infant and childhood health. Defects are associated with decreased longevity. Individuals with defects have a life expectancy of nearly ten years fewer than those without defects, suggesting that the development of a defect marks a significant and lasting health event. Enamel hypoplasias occur most frequently on anterior teeth, polar teeth in developmental fields, and the middle developmental thirds of teeth. Analysis of these data suggests that enamel may be differentially susceptible to growth disruption and that susceptibility varies both within and among teeth. The study of enamel defects at Dickson provides insights into the health and nutritional consequences of the economic change from hunting and gathering to agriculture. More generally, with the availability of teeth from genetically homogeneous populations, studies of enamel hypoplasias in prehistory should provide a useful complement to research on this condition in contemporary peoples.

  17. [Pediatric emergency: adrenal insufficiency and adrenal crisis].

    PubMed

    Martínez, Alicia; Pasqualini, Titania; Stivel, Mirta; Heinrich, Juan Jorge

    2010-04-01

    Adrenal insufficiency is defined by impaired secretion of adrenocortical hormones. It is classified upon the etiology in primary and secondary. Rapid recognition and therapy of adrenocortical crisis are critical to survival. Patients often have nonspecific symptoms: anorexia, vomiting, weakness, fatigue and lethargy. They are followed by hypotension, shock, hypoglicemia, hyponatremia and hyperkalemia. All patients with adrenal insufficiency require urgent fluid reposition, correction of hypoglycemia and glucocorticoid replacement, in order to avoid serious consequences of adrenal crisis. After initial crisis treatment, maintenance dose of corticoids should be indicated. Mineralocorticoids replacement, if necessary, should also be initiated.

  18. The diagnosis and treatment of dyskeratosis congenita: a review

    PubMed Central

    Fernández García, M Soledad; Teruya-Feldstein, Julie

    2014-01-01

    Dyskeratosis congenita (DC) is an inherited bone marrow failure (BMF) syndrome characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. However, patients usually develop BMF and are predisposed to cancer, with increased risk for squamous cell carcinoma and hematolymphoid neoplasms. DC is a disease of defective telomere maintenance and is heterogeneous at the genetic level. It can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Mutations in at least ten telomere- and telomerase-associated genes have been described in DC. There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells. Allogeneic hematopoietic stem cell transplantation is the only curative treatment for BMF. PMID:25170286

  19. Tooth enamel hypoplasia in PHACE syndrome.

    PubMed

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age.

  20. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  1. How Is Adrenal Cancer Diagnosed?

    MedlinePlus

    ... exam will give other information about signs of adrenal gland cancer and other health problems. Your doctor will ... an adrenal cancer will spread outside of the adrenal gland. Imaging tests Chest x-ray A chest x- ...

  2. A rare adrenal incidentaloma: adrenal schwannoma.

    PubMed

    Adas, Mine; Ozulker, Filiz; Adas, Gokhan; Koc, Bora; Ozulker, Tamer; Sahin, Ilknur Mansuroglu

    2013-01-01

    Adrenal schwannoma is an extremely uncommon cause of incidentaloma. It originates from neural sheath Schwann cells of the adrenal gland. We report the case of a left adrenal schwannoma incidentally discovered in a 32-year-old woman during examination of bloated feeling and stomach ache. The patient was incidentally found to have a left adrenal mass of 9 cm on abdominal ultrasonography. Computed tomography (CT) of the abdomen and [(18)F] fluorodeoxyglucose positron emission tomography (PET) were also performed. Metabolic evaluation was unremarkable. Due to the large size of the tumor, left adrenalectomy was performed. The postoperative course was uneventful. Histological examination established the diagnosis of schwannoma. This diagnosis was supported by immunohistochemistry of S-100 and vimentin positivity. In conclusion, adrenal schwannoma is an extremely rare entity and can grow considerably in size. The present case report emphasizes that clinicians should be aware of the possibility of retroperitoneal schwannoma. Total excision of benign schwannoma is associated with a favorable outcome. To our knowledge, there are case reports of schwannoma with CT and magnetic resonance imaging findings in the literature, although this is the first schwannoma case with PET-CT imaging.

  3. Hypertension and adrenal disorders.

    PubMed

    Blumenfeld, J D

    1993-03-01

    Abnormalities of adrenal cortical and medullary function are important causes of hypertension in adults. Mineralocorticoid hypertension, characterized by spontaneous hypokalemia with excessive kaliuresis and low plasma renin activity, is most commonly caused by aldosterone-producing adenoma or, less frequently, by nonadenomatous adrenal hyperplasia. However, recent evidence indicates that this classification oversimplifies the pathophysiologic diversity of this syndrome. Advances in steroid biochemistry and molecular biology have improved our ability to identify patients with various forms of mineralocorticoid hypertension and also provide evidence that they are underdiagnosed. Pheochromocytomas are most commonly located in the adrenal medulla, where they may overproduce norepinephrine or epinephrine. Appropriate screening of norepinephrine, epinephrine, and their metabolites is essential because tumors that secrete epinephrine exclusively may not present with hypertension and, thus, can be overlooked. Extra-adrenal pheochromocytomas are more prevalent than previously considered and pose special problems because they may be multicentric, difficult to locate, and more likely to be malignant than are adrenal pheochromocytomas.

  4. Enamel hypoplasia: challenges of esthetic restorative treatment.

    PubMed

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia.

  5. On the classification of congenital thumb hypoplasia.

    PubMed

    Tonkin, M A

    2014-11-01

    In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs.

  6. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis].

    PubMed

    Kan'shina, N F; Rykov, V A; Lakhno, P A

    1990-01-01

    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  7. Pontocerebellar hypoplasia type 2: a neuropathological update

    PubMed Central

    Aronica, Eleonora; de Vries, Linda; Nikkels, Peter G. J.; Scheper, Wiep; Hoozemans, Jeroen J.; Poll-The, Bwe - Tien; Troost, Dirk

    2007-01-01

    Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was studied for comparison. Typical findings are: short cerebellar folia with poor branching (“hypoplasia”), relative sparing of the vermis, sharply demarcated areas of full thickness loss of cerebellar cortex probably resulting from regression at an early stage of development, segmental loss of dentate nuclei with preserved islands and reactive changes, segmental loss in the inferior olivary nucleus with reactive changes, loss of ventral pontine nuclei with near absence of transverse pontine fibers and sparing of spinal anterior horn cells. Variable findings are: cystic cerebellar degeneration, found in two, with vascular changes limited to the cerebellum in one. Comparison to olivopontocerebellar hypoplasia (OPCH) strongly suggests a continuum of pathology between this disorder and PCH-2. Immunohistochemical evaluation of the endoplasmic reticulum stress response is negative. We conclude that the neuropathological findings in PCH-2 are sufficiently specific to enable an unequivocal diagnosis based on neuropathology. PMID:17641900

  8. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) in children and adults with primary adrenal failure: ten years' experience

    PubMed Central

    Lin, Lin; Gu, Wen-Xia; Ozisik, Gokhan; To, Wing S.; Owen, Catherine J.; Jameson, J. Larry; Achermann, John C.

    2007-01-01

    Context Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune, metabolic, and developmental disorders. The nuclear receptors DAX1 (NR0B1) and steroidogenic factor-1 (SF1/Ad4BP, NR5A1) play an important role in adrenal development and function, and mutations in these transcription factors have been found in patients with adrenal hypoplasia. Objective To investigate the prevalence of DAX1 and SF1 mutations in children and adults with primary adrenal failure of unknown etiology (i.e., not caused by congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune disease). Patients One-hundred and seventeen patients were included. Eighty-eight individuals presented in infancy or childhood with adrenal hypoplasia or primary adrenal failure of unknown etiology (n=64, 46,XY phenotypic males; n=17, 46,XY gonadal dysgenesis/impaired androgenization; n=7, 46,XX females). Twenty-nine individuals presented in adulthood with “Addison disease” of unknown etiology. Methods Mutational analysis of DAX1 (NR0B1) (including exon 2α/1A) and SF1 (NR5A1) by direct sequencing. Results DAX1 mutations were found in 58% (37/64) of 46,XY phenotypic boys referred with adrenal hypoplasia, and in all boys (8/8) with hypogonadotropic hypogonadism and a family history suggestive of adrenal failure in males. SF1 mutations causing adrenal failure were found only in two patients with 46,XY gonadal dysgenesis. No DAX1 or SF1 mutations were identified in the adult-onset group. Conclusions DAX1 mutations are a relatively frequent cause of adrenal failure in this group of boys. SF1 mutations causing adrenal failure in humans are rare and are more likely to be associated with significant underandrogenization and gonadal dysfunction in 46,XY individuals. PMID:16684822

  9. A case of amblyopia with contralateral optic nerve hypoplasia.

    PubMed

    Frantz, Kelly A; Pang, Yi

    2013-09-01

    We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven-year-old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/-0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better-seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.

  10. Management of Adrenal Masses.

    PubMed

    Bhat, Hattangadi Sanjay; Tiyadath, Balagopal Nair

    2017-03-01

    An adrenal mass can be either symptomatic or asymptomatic in the form of adrenal incidentalomas (AIs) in up to 8 % in autopsy and 4 % in imaging series. Once a diagnosis of adrenal mass is made, we need to differentiate whether it is functioning or nonfunctioning, benign, or malignant. In this article, we provide a literature review of the diagnostic workup including biochemical evaluation and imaging characteristics of the different pathologies. We also discuss the surgical strategies with laparoscopy as the mainstay with partial adrenalectomy in select cases and adrenalectomy in large masses. Follow-up protocol of AIs and adrenocortical carcinoma is also discussed.

  11. Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.

    PubMed Central

    DeBauche, D M; Pai, G S; Stanley, W S

    1990-01-01

    Dyskeratosis congenita (DC) is an inherited disorder characterized by reticular pigmentation of the skin, dystrophic nails, mucosal leukoplakia, and a predisposition to cancer in early adult life. In the majority of cases, DC is an X-linked recessive trait. However, one or more autosomal form(s) of DC may exist. Although excessive spontaneous chromatid breakage has been reported in DC, it is not a consistent cytological marker for this disorder. We examined the frequency and specificity of X-irradiation-induced G2 chromatid breakage in fibroblasts from three unrelated DC patients (two males and one female). Metaphase cells from DC patients had significantly more chromatid breaks (16-18-fold and 17-26-fold at 50 and 100 rad X-irradiation, respectively) and chromatid gaps (10-12-fold and 6-7-fold at 50 and 100 rad, respectively) than those from two different controls. Analysis of banded chromosomes revealed a nonrandom distribution of chromatid aberrations in DC but not in controls, a distribution corresponding to some of the known breakpoints for cancer-specific rearrangements, constitutive fragile sites, and/or loci for cellular proto-oncogenes. The significance of this finding for cancer predisposition in DC patients is uncertain, but the increased susceptibility of X-irradiation-induced chromatid breakage may serve as a cellular marker of diagnostic value. PMID:2301400

  12. [Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].

    PubMed

    Cammarata-Scalisi, Francisco; Natsuga, Ken; Toyonaga, Ellen; Nishie, Wataru; Shimizu, Hiroshi; Stock, Frances; Milano, Melisse; Petrosino, Pierina; Arenas de Sotolongo, Asmiria; Medina, Yoel

    2015-01-01

    Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c.280C> T, p.Arg94Cys) and discuss the several clinical features found with this mutation in the literature.

  13. Managing Adrenal Insufficiency

    MedlinePlus

    ... the body. • Surgical removal of the adrenals Temporary AI is caused by some medications, infections, and/or surgeries. Causes of temporary AI include the following: • Transsphenoidal surgery for Cushing’s disease ...

  14. Acute adrenal crisis

    MedlinePlus

    ... condition that occurs when there is not enough cortisol. This is a hormone produced by the adrenal ... parts. The outer portion, called the cortex, produces cortisol. This is an important hormone for controlling blood ...

  15. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.

    PubMed

    Yamaguchi, Hiroki; Sakaguchi, Hirotoshi; Yoshida, Kenichi; Yabe, Miharu; Yabe, Hiromasa; Okuno, Yusuke; Muramatsu, Hideki; Takahashi, Yoshiyuki; Yui, Shunsuke; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Miyano, Satoru; Inokuchi, Koiti; Ito, Etsuro; Ogawa, Seishi; Kojima, Seiji

    2015-11-01

    Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.

  16. Adrenal gland and bone.

    PubMed

    Hardy, Rowan; Cooper, Mark S

    2010-11-01

    The adrenal gland synthesizes steroid hormones from the adrenal cortex and catecholamines from the adrenal medulla. Both cortisol and adrenal androgens can have powerful effects on bone. The overproduction of cortisol in Cushing's disease leads to a dramatic reduction in bone density and an increase risk of fracture. Overproduction of adrenal androgens in congenital adrenal hyperplasia (CAH) leads to marked changes in bone growth and development with early growth acceleration but ultimately a significant reduction in final adult height. The role of more physiological levels of glucocorticoids and androgens on bone metabolism is less clear. Cortisol levels measured in elderly individuals show a weak correlation with measures of bone density and change in bone density over time with a high cortisol level associated with lower bone density and more rapid bone loss. Cortisol levels and the dynamics of cortisol secretion change with age which could also explain some age related changes in bone physiology. It is also now clear that adrenal steroids can be metabolized within bone tissue itself. Local synthesis of cortisol within bone from its inactive precursor cortisone has been demonstrated and the amount of cortisol produced within osteoblasts appears to increase with age. With regard to adrenal androgens there is a dramatic reduction in levels with aging and several studies have examined the impact that restoration of these levels back to those seen in younger individuals has on bone health. Most of these studies show small positive effects in women, not men, but the skeletal sites where benefits are seen varies from study to study.

  17. Breast hypoplasia and breastfeeding: a case history.

    PubMed

    Thorley, Virginia

    2005-07-01

    Hypoplasia, or glandular insufficiency, of the breasts is an infrequent cause of breastfeeding failure or infant failure to thrive. Early evaluation of the breasts of early identification of infant indicators can enable mothers to breastfeed while providing appropriate supplementation to facilitate satisfactory hydration and growth. A case report is presented of a highly motivated mother with minimal breast tissue who was able to soothe four of her infants at her breasts, supplying some breastmilk, while providing the bulk of their nutritional requirements by other means. At the time of writing she is tandem breastfeeding as well as providing artificial milk by bottle.

  18. Chest wall hypoplasia--principles and treatment.

    PubMed

    Mayer, Oscar Henry

    2015-01-01

    The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune syndrome, present significantly different challenges than those faced with early onset scoliosis in which chest wall mechanics and thoracic volume may be much closer to normal. Because of this difference more aggressive approaches to clinical and surgical management are necessary.

  19. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  20. A case of systemic aplasia cutis congenita: a newly recognized syndrome?

    PubMed

    Sugiura, Tokio; Kouwaki, Masanori; Kiyosawa, Shusuke; Sasada, Yoshie; Maeda, Matsuyoshi; Goto, Kenji; Koyama, Norihisa

    2008-04-01

    Aplasia cutis congenita, congenital absence of a localized area of skin, usually on the vertex of the scalp, occurs as an isolated defect, or with one or more other congenital anomalies as part of a syndrome, sequence or association. To date, more than 500 cases have been reported. A more severe and extensive form, almost complete absence of skin and subcutaneous tissue, was reported by Park et al. in 1998 [J Med Genet 35:609-611]. Until now, no other such lethal case has been reported. Here, we report the second case of systemic aplasia cutis congenita. The female was born without any skin at all, and with hypoplastic lungs, syndactyly, skull defect, esophageal atresia, intestinal malrotation, and calcifications of the hepatic capsule, as well as with other anomalies. She died about 12 hours after birth probably due to dehydration. On microscopic examination, the external surface of the body showed complete absence of the epidermis. Muscle fibers were thin. There was no evidence of skin appendages. The present case gives strong support to the suggestion that systemic aplasia cutis congenita is a newly recognized syndrome. More cases will have to be reported and studied in order to understand the etiology and establish diagnostic criteria. Thus, it is our conclusion that systemic aplasia cutis congenita might be a newly recognized syndrome.

  1. Pachyonychia Congenita Type 1: Case Report and Review of the Literature

    PubMed Central

    Rathore, Praveen Kumar; Khullar, Varun; Das, Anupam

    2016-01-01

    The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. We also discuss in a nutshell, the literature till date. PMID:27057022

  2. Prevalence and possible etiology of dental enamel hypoplasia.

    PubMed

    El-Najjar, M Y; DeSanti, M V; Ozebek, L

    1978-02-01

    Two hundred black and white adult human skeletons and 200 living black and white children from the greater Cleveland area were examined for evidence of enamel hypoplasia. Enamel hypoplasia, present in varying expressings (pits, lines and grooves), was found to be more prevalent in both skeletal samples, than in the living groups. In the majority of cases, sex differences between white and black males and females through time and space are highly significant for all tooth catagories. Regardless of the mechanisms behind it, prevalence of enamel hypoplasia for both white and black group has significantly declined through time. No evidence suggesting specific etiologies responsible for enamel hypoplasia can be found. In the majority of previously published reports, the etiology is still idiopathic. The reduction in the prevalence of enamel hypoplasia in the groups examined through time may be related to improved nutritional conditions and the elimination or decline of childhood diseases that have been implicated in this condition.

  3. [Adrenal tumours in childhood].

    PubMed

    Martos-Moreno, G A; Pozo-Román, J; Argente, J

    2013-09-01

    This special article aims to summarise the current knowledge regarding the two groups of tumours with their origin in the adrenal gland: 1) adrenocortical tumours, derived from the cortex of the adrenal gland and 2) phaeochromocytomas and paragangliomas, neuroendocrine tumours derived from nodes of neural crest derived cells symmetrically distributed at both sides of the entire spine (paragangliomas [PG]). These PGs can be functioning tumors that secrete catecholamines, which confers their typical dark colour after staining with chromium salts (chromaffin tumors). Among these, the term phaeochromocytoma (PC) is restricted to those PGs derived from the chromaffin cells in the adrenal medulla (intra-adrenal PGs), whereas the term PG is used for those sympathetic or parasympathetic ones in an extra-adrenal location. We analyse the state of the art of their pathogenic and genetic bases, as well as their clinical signs and symptoms, the tests currently available for performing their diagnosis (biochemical, hormonal, imaging and molecular studies) and management (surgery, pre- and post-surgical medical treatment), considering the current and developing strategies in chemo- and radiotherapy.

  4. Myth vs. Fact: Adrenal Fatigue

    MedlinePlus

    ... Hormones Do? Infographics Myth vs Fact Scientific Statements Social Media Resources Peer Support Resources Diseases and Conditions Adrenal ... Hormones Do? Infographics Myth vs Fact Scientific Statements Social Media Resources Peer Support Resources Diseases and Conditions Adrenal ...

  5. What Is Adrenal Cortical Cancer?

    MedlinePlus

    ... include pheochromocytomas (which are most often benign) and neuroblastomas . This document is about tumors and cancers of ... does not discuss tumors of the adrenal medulla. Neuroblastoma s are covered in a separate document . Adrenal cortex ...

  6. Percutaneous ablation of adrenal tumors.

    PubMed

    Venkatesan, Aradhana M; Locklin, Julia; Dupuy, Damian E; Wood, Bradford J

    2010-06-01

    Adrenal tumors comprise a broad spectrum of benign and malignant neoplasms and include functional adrenal adenomas, pheochromocytomas, primary adrenocortical carcinoma, and adrenal metastases. Percutaneous ablative approaches that have been described and used in the treatment of adrenal tumors include percutaneous radiofrequency ablation, cryoablation, microwave ablation, and chemical ablation. Local tumor ablation in the adrenal gland presents unique challenges, secondary to the adrenal gland's unique anatomic and physiological features. The results of clinical series employing percutaneous ablative techniques in the treatment of adrenal tumors are reviewed in this article. Clinical and technical considerations unique to ablation in the adrenal gland are presented, including approaches commonly used in our practices, and risks and potential complications are discussed.

  7. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

    PubMed

    Santos, Silvana C; Pardono, Eliete; Ferreira da Costa, Maria Ione; de Melo, Aurea Nogueira; Graciani, Zodja; de Albuquerque e Souza, Alessandra Cavalcanti; Lezirovitz, Karina; Thiele-Aguiar, Renata Soares; Mingroni-Netto, Regina Célia; Opitz, John M; Kok, Fernando; Otto, Paulo A

    2008-12-15

    We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia.

  8. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  9. The rat adrenal medulla.

    PubMed

    Tischler, A S

    1989-01-01

    Adult adrenal medullary cells, in many strains of rats, develop diffuse and nodular hyperplasia and neoplasia under a variety of conditions. Both endogenous and exogenous factors affect the development of these proliferative changes. The former include the animals' strain, age, and sex. The latter include drugs and other environmental agents, diet, and perhaps stress. Adrenal medullary neoplasms which arise under diverse circumstances often closely resemble each other both morphologically and functionally, and exhibit characteristics of immature chromaffin cells. Recent data indicate that normal, mature-appearing epinephrine- and norepinephrine-type chromaffin cells are able to divide, and suggest that signals which regulate chromaffin cell function also regulate cell proliferation. Prolongation of these signals or superimposed abnormalities might initiate pathological proliferative states. It remains to be determined whether the mechanisms which promote or prevent cell proliferation in the adult adrenal are related to those involved in normal development.

  10. Adrenal venous sampling in a patient with adrenal Cushing syndrome

    PubMed Central

    Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia. PMID:26309345

  11. Adrenal venous sampling in a patient with adrenal Cushing syndrome.

    PubMed

    Builes-Montaño, Carlos Esteban; Villa-Franco, Carlos Andrés; Román-Gonzalez, Alejandro; Velez-Hoyos, Alejandro; Echeverri-Isaza, Santiago

    2015-01-01

    The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia.

  12. A case report on a rare disease: dyskeratosis congenita.

    PubMed

    Shiferaw, Bethel; Mukka, Satish; Ha, Lawrence; Bekele, Ebisa; Ramos De Oleo, Radhames

    2015-05-01

    Dyskeratosis congenita (DC) is a rare hereditary disorder characterized by bone marrow failure, cancer predisposition (11-fold increase compared to general population), ectodermal dysplasia (nail dystrophy, oral leukoplakia, and abnormal skin pigmentation) and other additional somatic abnormalities. A 22-year-old man presented with fever, chills, and a painful throat. Leukoplakia was noted on his tongue and some of his fingers and toe nails were markedly dystrophic. His skin seemed spotted with pigmentation on the anterior chest and neck. Patient reported family history of "blood disease" and leukemia. He was admitted for the management of neutropenic fever (102.9 °F, WBC: 940, ANC: 404, platelets: 21,000 and Hb: 9.2), and was put on broad spectrum antibiotics. A bone marrow biopsy revealed normocellular marrow with erythroid predominance and mild dyserythropoiesis. Chromosomal analysis indicated no numerical or structural chromosomal abnormalities. The fluorescence in situ hybridization report did not reveal any assay specific abnormalities. Viral marker for hepatitis and studies of autoimmune antibodies showed negative results. CT scan had shown splenomegaly. Patient was discharged after he has been fever and symptoms free, with a follow-up at hematology clinic. Individuals with DC most commonly present with skin pigmentation, dystrophic nails and leukoplakia, as presented in this case. Genetic abnormality was not confirmed in our patient, but it is suggested that X-linked recessive pattern would be significant because of greater prevalence in men than in women (10:1). The distribution of blood counts and bone marrow biopsy categorizes our patient in the moderate aplastic anemia class which is the most prevalent pattern. When fever in young patients with a failing bone marrow is diagnosed, it is important that physicians rule out the possible underlying causes. DC is a rare disease, but can be diagnosed by simple inspection of the mucocutaneous abnormalities. DC

  13. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

    PubMed

    Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F

    2008-01-01

    Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

  14. Brain stem hypoplasia associated with Cri-du-Chat syndrome.

    PubMed

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  15. Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

    PubMed Central

    Hong, Jin Ho; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries. PMID:24265573

  16. Aplasia and hypoplasia of the maxillary sinus: A case series

    PubMed Central

    Jafari-Pozve, Nasim; Sheikhi, Mahnaz; Ataie-Khorasgani, Masoud; Jafari-Pozve, Shahram

    2014-01-01

    Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT) and also cone beam computed tomography (CBCT) are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported. PMID:25426156

  17. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  18. Pulmonary hypoplasia presenting with recurrent wheezing in an infant.

    PubMed

    Çeliksoy, Mehmet Halil; Tander, Burak; Aşılıoğlu, Nazik; Barış, Yakup Sancar; Yıldıran, Alişan

    2015-10-01

    Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

  19. Ossification of the posterior atlantoaxial membrane associated with atlas hypoplasia

    PubMed Central

    Meng, Yichen; Zhou, Dongxiao; Gao, Rui; Ma, Jun; Wang, Ce; Zhou, Xuhui

    2016-01-01

    Abstract Rationale: Hypoplasia with an intact posterior arch of the atlas and ossification of the posterior atlantoaxial membrane (PAAM) are individually rare. Patient concerns: The patient presented with a 6-month history of progressive weakness and paresthesia of his lower extremities. Diagnoses: Cervical myelopathy resulting from atlas hypoplasia and ossification of the posterior atlantoaxial membrane. Interventions: Laminectomy of the atlas with duroplasty. Outcomes: Preoperative symptoms were alleviated. Lessons: In most reported cases, either atlas hypoplasia or ossification of the PAAM is responsible for patients’ myelopathy. The case illustrated here, to the best of our knowledge, is the first one with coexistent atlas hypoplasia and ossification of the PAAM. And laminectomy of the atlas with duroplasty provided satisfied outcome. PMID:27902623

  20. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    PubMed

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed.

  1. Adrenal cortical and medullary imaging.

    PubMed

    Freitas, J E

    1995-07-01

    Adrenal disease can be manifested by endocrine dysfunction or anatomic abnormalities detected by cross-sectional imaging modalities. With the advent of newer and more reliable in vitro assays and a better understanding of the spectrum of adrenal pathology, the physician can now adopt a more accurate and cost-effective approach to the diagnosis of adrenal disease. Both functional and anatomic imaging modalities can play an important role in the evaluation of the incidental adrenal mass, the early detection of adrenal metastases, differentiation of the various causes of Cushings's syndrome, selection of patients for potentially curative surgery in primary aldosteronism and adrenal hyperandrogenism, and localization of pheochromocytomas and neuroblastomas. The usefulness of the adrenal cortical radiopharmaceutical, 131I-6-beta-iodomethylnorcholesterol (NP-59), and the adrenal medullary radiopharmaceuticals, 131I and 123I-metaiodobenzylguanidine (MIBG), is detailed for these various clinical settings and the role of NP-59 and MIBG is contrasted to that of the cross-sectional modalities, computed tomography and magnetic resonance imaging (MRI). Incidental adrenal masses are common, but malignancies are few. Imaging studies select those patients who require a further evaluation by biopsy examination or adrenalectomy. In the hyperfunctioning endocrine states, such as Cushing's syndrome, primary aldosteronism, adrenal androgenism, and pheochromocytoma, correlation of biochemical findings with both functional and anatomic imaging is necessary to avoid inappropriate and ineffective surgical intervention, yet not miss an opportunity for curative resection. Lastly, MIBG and MRI are complementary in the detection and staging of neuroblastoma.

  2. [Phenotype analysis and the molecular mechanism of enamel hypoplasia].

    PubMed

    Lv, Ping; Gao, Xue-jun

    2009-02-18

    Enamel hypoplasia is a surface defect of the tooth crown caused by a disturbance of enamel matrix secretion. Enamel hypoplasia may be inherited, or result from illness, malnutrition, trauma, or high concentrations of fluorides or strontium in the drinking water or food. Different types of enamel hypoplasia have been distinguished, such as pit-type, plane-type, and linear enamel hypoplasia. Hypoplasia has been related to the intensity and duration of stress events, the number of affected ameloblasts, and their position along the forming tooth crown. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation, most teeth are affected in both the primary and permanent dentition. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less homeobox 3, enamelysin, and kallikrein 4. Since the enamel is formed according to a strict chronological sequence, and once formed, undergoes no repair or regeneration. Then the analysis the phenotype of enamel hypoplasia can provide insights of the severity of inherited or environmental stress and the molecular mechanism during the period of enamel formation.

  3. Mammary hypoplasia: not every breast can produce sufficient milk.

    PubMed

    Arbour, Megan W; Kessler, Julia Lange

    2013-01-01

    Breast milk is considered the optimal form of nutrition for newborn infants. Current recommendations are to breastfeed for 6 months. Not all women are able to breastfeed. Mammary hypoplasia is a primary cause of failed lactogenesis II, whereby the mother is unable to produce an adequate milk volume. Women with mammary hypoplasia often have normal hormone levels and innervation but lack sufficient glandular tissue to produce an adequate milk supply to sustain their infant. The etiology of this rare condition is unclear, although there are theories that refer to genetic predisposition and estrogenic environmental exposures in select agricultural environments. Women with mammary hypoplasia may not exhibit the typical breast changes associated with pregnancy and may fail to lactate postpartum. Breasts of women with mammary hypoplasia may be widely spaced (1.5 inches or greater), asymmetric, or tuberous in nature. Awareness of the history and clinical signs of mammary hypoplasia during the prenatal period and immediate postpartum increases the likelihood that women will receive the needed education and physical and emotional support and encouragement. Several medications and herbs demonstrate some efficacy in increasing breast milk production in women with mammary hypoplasia.

  4. Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands.

    PubMed

    Ozalp, O; Ozcimen, E E; Yilmaz, Z; Yanik, F; Sahin, F I

    2008-01-01

    We report a family with two consequent sibs with anophthalmia and cleft lip and palate. A 27 year old woman married to her first cousin was counseled for anophthalmia and cleft lip and palate detected during routine fetal ultrasonographic examination on the 23rd week of the pregnancy. Her obstetric history revealed a healthy girl aged 7 years and a boy with anophthalmia and cleft lip and palate who lived for 20 days in the neonatal intensive care unit. The current pregnancy was terminated after the diagnosis, and post mortem examination of the fetus revealed pre-maxilla agenesis, anophthalmia, cerebral ventricular dilatation, adrenal hypoplasia and single umbilical artery. Chromosome analysis resulted in normal karyotypes of the fetus and both parents. The inheritance pattern was regarded as autosomal recessive and the family was informed about the condition and risks during genetic counseling.

  5. CT demonstration of bilateral adrenal hemorrhage

    SciTech Connect

    Ling, D.; Korobkin, M.; Silverman, P.M.; Dunnick, N.R.

    1983-08-01

    Bilateral adrenal hemorrhage with subsequent adrenal insufficiency is a recognized complication of anticoagulant therapy. Because the clinical manifestations are often nonspecific, the antemortem diagnosis of adrenal hemorrhage has been a difficult clinical problem. Computed tomography (CT) provides detailed images of the adrenal glands that are not possible with conventional imaging methods. The CT findings of bilateral adrenal hemorrhage in an anticoagulated patient are reported.

  6. Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

    PubMed Central

    Ravenscroft, Gianina; Nolent, Flora; Rajagopalan, Sulekha; Meireles, Ana M.; Paavola, Kevin J.; Gaillard, Dominique; Alanio, Elisabeth; Buckland, Michael; Arbuckle, Susan; Krivanek, Michael; Maluenda, Jérome; Pannell, Stephen; Gooding, Rebecca; Ong, Royston W.; Allcock, Richard J.; Carvalho, Ellaine D.F.; Carvalho, Maria D.F.; Kok, Fernando; Talbot, William S.; Melki, Judith; Laing, Nigel G.

    2015-01-01

    Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequencing, it was shown that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one frameshift mutation) in GPR126. GPR126 encodes G-protein-coupled receptor 126, which has been shown to be essential for myelination of axons in the peripheral nervous system in fish and mice. A previous study reported that Gpr126−/− mice have a lethal arthrogryposis phenotype. We have shown that the peripheral nerves in affected individuals from one family lack myelin basic protein, suggesting that this disease in affected individuals is due to defective myelination of the peripheral axons during fetal development. Previous work has suggested that autoproteolytic cleavage is important for activating GPR126 signaling, and our biochemical assays indicated that the missense substitution (p.Val769Glu [c.2306T>A]) impairs autoproteolytic cleavage of GPR126. Our data indicate that GPR126 is critical for myelination of peripheral nerves in humans. This study adds to the literature implicating defective axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be investigated in individuals affected by this disorder. PMID:26004201

  7. Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics.

    PubMed

    Cheng, Wei; Tian, Jing; Burgunder, Jean-Marc; Hunziker, Walter; Eng, How-Lung

    2014-01-01

    Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders. In this study, we generated transgenic zebrafish expressing, under the control of a muscle specific promoter, human CLCN1 carrying mutations that have been identified in human patients suffering from myotonia congenita. We developed video analytic tools that are able to provide precise quantitative measurements of movement abnormalities in order to analyse the effect of these CLCN1 mutations on adult transgenic zebrafish swimming. Two new parameters for body-wave kinematics of swimming reveal changes in body curvature and tail offset in transgenic zebrafish expressing the disease-associated CLCN1 mutants, presumably due to their effect on muscle function. The capability of the developed video analytic tool to distinguish wild-type from transgenic zebrafish could provide a useful asset to screen for compounds that reverse the disease phenotype, and may be applicable to other movement disorders besides myotonia congenita.

  8. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

    PubMed

    Ravenscroft, Gianina; Nolent, Flora; Rajagopalan, Sulekha; Meireles, Ana M; Paavola, Kevin J; Gaillard, Dominique; Alanio, Elisabeth; Buckland, Michael; Arbuckle, Susan; Krivanek, Michael; Maluenda, Jérome; Pannell, Stephen; Gooding, Rebecca; Ong, Royston W; Allcock, Richard J; Carvalho, Ellaine D F; Carvalho, Maria D F; Kok, Fernando; Talbot, William S; Melki, Judith; Laing, Nigel G

    2015-06-04

    Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequencing, it was shown that the probands each harbored a different homozygous mutation (one missense, one nonsense, and one frameshift mutation) in GPR126. GPR126 encodes G-protein-coupled receptor 126, which has been shown to be essential for myelination of axons in the peripheral nervous system in fish and mice. A previous study reported that Gpr126(-/-) mice have a lethal arthrogryposis phenotype. We have shown that the peripheral nerves in affected individuals from one family lack myelin basic protein, suggesting that this disease in affected individuals is due to defective myelination of the peripheral axons during fetal development. Previous work has suggested that autoproteolytic cleavage is important for activating GPR126 signaling, and our biochemical assays indicated that the missense substitution (p.Val769Glu [c.2306T>A]) impairs autoproteolytic cleavage of GPR126. Our data indicate that GPR126 is critical for myelination of peripheral nerves in humans. This study adds to the literature implicating defective axoglial function as a key cause of severe arthrogryposis multiplex congenita and suggests that GPR126 mutations should be investigated in individuals affected by this disorder.

  9. Radioguided Adrenal Surgery

    PubMed Central

    Deus, Javier; Millera, Alfonso; Andrés, Alejandro; Prats, Enrique; Gil, Ismael; Suarez, Manuel; Salcini, José L.; Lahoz, Manuel

    2015-01-01

    Abstract The laparoscopic adrenalectomy is considered as the procedure of choice for the treatment of adrenal hyperplasia and tumor lesions. However, some special situations may limit the use of this method due to the difficulty to locate the gland and perform the lesion excision. We analyze 2 patients of a left adrenal tumor, explaining how they have overcome the difficulties in both situations. The first case was a patient with a history of intra-abdominal surgery and the other patient suffered from severe obesity. We performed with the use of the gamma probe, and the 2 cases, was of great help to access and glandular localization. The help of gamma probe test was achieved in the surgical bed, that removal was complete. The use of the portable gamma probe facilitated the access to the left adrenal gland as well as conducting the glandular excision without delay, despite the difficulties due to the intra abdominal surgery caused by the previous surgery, and in the case of severe obesity. PMID:26426608

  10. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  11. Development of adrenal cortex zonation.

    PubMed

    Xing, Yewei; Lerario, Antonio M; Rainey, William; Hammer, Gary D

    2015-06-01

    The human adult adrenal cortex is composed of the zona glomerulosa (zG), zona fasciculata (zF), and zona reticularis (zR), which are responsible for production of mineralocorticoids, glucocorticoids, and adrenal androgens, respectively. The final completion of cortical zonation in humans does not occur until puberty with the establishment of the zR and its production of adrenal androgens; a process called adrenarche. The maintenance of the adrenal cortex involves the centripetal displacement and differentiation of peripheral Sonic hedgehog-positive progenitors cells into zG cells that later transition to zF cells and subsequently zR cells.

  12. [Sonography of the adrenal glands].

    PubMed

    Rüeger, R

    2005-03-02

    In the abdominal ultrasonography, the representation of normal adrenal glands is frequently problematic, also for experienced practitioners in ultrasonography. During a seminary at the congress of the SGUM in Davos, in June 2004, it was specially entered to this problematic by anatomical illustrations and live demonstrations. These statements will be summarized in the following article. Also, the technics of examination of the adrenal glands will be explained, especially in comparison to anatomical cut-preparations. It will be entered to particular pathological statements of the adrenal glands. The proceeding will be described by the localisation of accidentally detected tumours of adrenal glands.

  13. Adrenal crisis secondary to bilateral adrenal haemorrhage after hemicolectomy

    PubMed Central

    Tsang, Venessa H M; Kabir, Shahrir; Ip, Julian C Y

    2016-01-01

    Summary Adrenal haemorrhage is a rare cause of adrenal crisis, which requires rapid diagnosis, prompt initiation of parenteral hydrocortisone and haemodynamic monitoring to avoid hypotensive crises. We herein describe a case of bilateral adrenal haemorrhage after hemicolectomy in a 93-year-old female with high-grade colonic adenocarcinoma. This patient’s post-operative recovery was complicated by an acute hypotensive episode, hypoglycaemia and syncope, and subsequent computed tomography (CT) scan of the abdomen revealed bilateral adrenal haemorrhage. Given her labile blood pressure, intravenous hydrocortisone was commenced with rapid improvement of blood pressure, which had incompletely responded with fluids. A provisional diagnosis of hypocortisolism was made. Initial heparin-induced thrombocytopenic screen (HITTS) was positive, but platelet count and coagulation profile were both normal. The patient suffered a concurrent transient ischaemic attack with no neurological deficits. She was discharged on a reducing dose of oral steroids with normal serum cortisol levels at the time of discharge. She and her family were educated about lifelong steroids and the use of parenteral steroids should a hypoadrenal crisis eventuate. Learning points: Adrenal haemorrhage is a rare cause of hypoadrenalism, and thus requires prompt diagnosis and management to prevent death from primary adrenocortical insufficiency. Mechanisms of adrenal haemorrhage include reduced adrenal vascular bed capillary resistance, adrenal vein thrombosis, catecholamine-related increased adrenal blood flow and adrenal vein spasm. Standard diagnostic assessment is a non-contrast CT abdomen. Intravenous hydrocortisone and intravenous substitution of fluids are the initial management. A formal diagnosis of primary adrenal insufficiency should never delay treatment, but should be made afterwards. PMID:27855238

  14. Traumatic and non-traumatic adrenal emergencies.

    PubMed

    Chernyak, Victoria; Patlas, Michael N; Menias, Christine O; Soto, Jorge A; Kielar, Ania Z; Rozenblit, Alla M; Romano, Luigia; Katz, Douglas S

    2015-12-01

    Multiple traumatic and non-traumatic adrenal emergencies are occasionally encountered during the cross-sectional imaging of emergency department patients. Traumatic adrenal hematomas are markers of severe polytrauma, and can be easily overlooked due to multiple concomitant injuries. Patients with non-traumatic adrenal emergencies usually present to an emergency department with a non-specific clinical picture. The detection and management of adrenal emergencies is based on cross-sectional imaging. Adrenal hemorrhage, adrenal infection, or rupture of adrenal neoplasm require immediate detection to avoid dire consequences. More often however, adrenal emergencies are detected incidentally in patients being investigated for non-specific acute abdominal pain. A high index of suspicion is required for the establishment of timely diagnosis and to avert potentially life-threatening complications. We describe cross-sectional imaging findings in patients with traumatic and non-traumatic adrenal hemorrhage, adrenal infarctions, adrenal infections, and complications of adrenal masses.

  15. Increased enamel hypoplasia and very low birthweight infants.

    PubMed

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P

    2013-09-01

    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.

  16. Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.

    PubMed Central

    Acers, T E

    1981-01-01

    Forty-five patients with the common clinical factor of optic nerve hypoplasia are analyzed regarding their clinical appearance, echographic and computed tomographic measurements of the optic nerves, and the correlation of anatomic size with visual function. Computed axial tomographic studies of the midline brain were performed on all 45 patients to determine the incidence of correlated structural defects, especially the septum pellucidum, and neuroendocrine dysfunction. Review of the spectrum of septo-optic-pituitary syndrome is separately developed to include historical background, embryogenesis, histopathology, and pathogenesis of the three major components of the syndrome. In summary, 45 patients had optic nerve hypoplasia, 32 with evidence of segmental or partial hypoplasia and 13 with evidence of complete or diffuse hypoplasia--the optic nerve hypoplasia syndrome. Twelve of these patients demonstrated absence of the septum pellucidum by computed axial tomography--the septo-optic dysplasia syndrome. Of these 12 patients with partial or complete absence of the septum pellucidum, six demonstrated evidence of pituitary hypofunction--the septo-optic-pituitary dysplasia syndrome. Images FIGURE 2 FIGURE 3 a FIGURE 3 b FIGURE 4 a FIGURE 4 b FIGURE 4 c FIGURE 4 d PMID:7043865

  17. [Adrenal carcinoma induced hypoglycemia].

    PubMed

    Soutelo, Jimena; Saban, Melina; Borghi Torzillo, Florencia; Lutfi, Ruben; Leal Reyna, Mariela

    2013-01-01

    Adrenal carcinoma is a rare malignancy of poor prognosis. The most common clinical presentation is secondary to hormone production, while the development of symptomatic hypoglycemia is exceptional. We report the case of a 37 year old-woman admitted to hospital with severe hypoglycemia, hypertension, hypokalemia and amenorrhea. In the laboratory we found hypoglycemia, with low insulin levels, and androgen levels in tumor range. CT of abdomen and pelvis showed a heterogeneous lesion of solid appearance without a cleavage plane relative to liver parenchyma, and intense contrast enhancement. Retroperitoneal mass was removed, and the patient evolved without complications, blood glucose and potassium were normalized, blood pressure stabilized and menstrual cycles recovered.

  18. Left pulmonary artery hypoplasia presenting with unilateral hyperluscent lung.

    PubMed

    Sunavala, A J; Thacker, H P; Khann, J N

    2011-03-01

    Agenesis or hypoplasia of the right or left pulmonary arteries are among the rarest pulmonary artery anomalies with left sided anomalies being reported even less frequently. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. It must be considered as a rare cause of recurrent lower respiratory tract infections in childhood and in subjects with a low threshold for or recurrent "High Altitude Pulmonary Edema".

  19. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

    PubMed

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S

    2014-06-01

    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

  20. Association of pulmonary artery agenesis and hypoplasia of the lung.

    PubMed

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael

    2006-09-01

    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  1. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    PubMed Central

    Jha, Abhishek; Gupta, Prakhar; Haroon, Mohammad; Shah, Gaurav; Gupta, Gagan; Khalid, Mohd.

    2015-01-01

    The term “vertebrobasilar dolichoectasia” refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia. PMID:26167222

  2. [Lumbar pain and bilateral adrenal masses].

    PubMed

    García, Elena; Sánchez, Raquel; Martínez, Guillermo; Bernal, Carmen; Calatayud, M; Partida, M; Hawkins, Federico

    2009-05-01

    Many problems may arise when defining whether adrenal lesions are primary to the adrenal glands or represent other tissue, whether they are benign or malignant and whether they are functioning or nonfunctioning. Adrenal imaging complements the clinical and hormonal evaluation of these patients. We present a patient with lumbar pain and bilateral adrenal masses.

  3. Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita

    PubMed Central

    Imai, Jin; Suzuki, Takayoshi; Yoshikawa, Marie; Dekiden, Makiko; Nakae, Hirohiko; Nakahara, Fumio; Tsuda, Shingo; Mizukami, Hajime; Koike, Jun; Igarashi, Muneki; Yabe, Hiromasa; Mine, Tetsuya

    2016-01-01

    Dyskeratosis congenita (DC) is a rare inherited disease in which the telomere complex cannot be maintained. Shortened telomeres can cause a number of clinical conditions. We herein report a case of unrelated bone marrow transplantation due to aplastic anemia associated with DC. The patient died of uncontrollable refractory intestinal bleeding. Three cases of DC with life-threatening hemorrhaging after transplantation have been reported; however, the bleeding origin could not be determined. Our case is the only patient in which a gastrointestinal bleeding point, jejunal multiple angioectasia, was determined. PMID:27904106

  4. Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia.

    PubMed

    Saito, Yoshiaki; Hayashi, Masaharu; Miyazono, Yayoi; Shimogama, Tatsuro; Ohno, Kousaku

    2006-05-01

    We report the autopsy case of a boy with arthrogryposis multiplex congenita, associated with callosal agenesis and dentato-olivary dysplasia. The patient manifested with dysmorphic facial features and suffered from intractable epilepsy during the neonatal period. These sets of complications suggest that a common molecular mechanism may be involved in the development of corpus callosum and the folding of the dentate and inferior olivary nuclei. Deep brain structures, including the brainstem and the cerebellum, may be involved in the pathophysiology of symptomatic generalized epilepsy. The differential diagnoses for the clinical and pathological characteristics of this patient are discussed.

  5. Adrenal involvement in non-Hodgkin lymphoma

    SciTech Connect

    Paling, M.R.; Williamson, B.R.J.

    1983-08-01

    Adrenal masses are described in seven cases of non-Hodgkin lymphoma in a series of 173 patients. In all seven patients the lymphoma was diffuse rather than nodular. Three patients had adrenal masses at the time of presentation, whereas in four cases the adrenal gland was a site of tumor recurrence after therapy. Three patients had simultaneous bilateral adrenal involvement by tumor. No characteristic features were recognized that might have distinguished these tumors from other adrenal masses. Appropriate therapy successfully resolved the adrenal masses in all but one case. The latter patient was the only one with evidence of adrenal insufficiency.

  6. [Optic nerve hypoplasia and septo-optic dysplasia].

    PubMed

    Zimmermann-Paiz, Martín A; Fang-Sung, Jen Wen

    2009-12-01

    The septo-optic dysplasia or De Morsier syndrome is an unusual disorder of the embryonic development. It consists of hypoplasia in one or both optic nerves, midline cerebral malformations and hypothalamic-pituitary dysfunction, which is inconstant. The present work describes the findings of 9 patients with septo-optic dysplasia.

  7. SCALP syndrome: sebaceous nevus syndrome, CNS malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus (giant congenital melanocytic nevus) with neurocutaneous melanosis: a distinct syndromic entity.

    PubMed

    Lam, Joseph; Dohil, Magdalene A; Eichenfield, Lawrence F; Cunningham, Bari B

    2008-05-01

    Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.

  8. Aplasia cutis congenita: a conservative approach of a case with large, extensive skin, and underlying skull defect

    PubMed Central

    Rocha, Dalila; Rodrigues, Joana; Marques, Jorge Sales; Pinto, Rui; Gomes, Anabela

    2015-01-01

    Key Clinical Message Aplasia cutis congenita is a disease in which skin, bone, and dura mater can be absent. In majority of the cases it affects the scalp. We report a baby girl born at term with a large scalp and skull defect measuring 9 × 10 cm. Conservative treatment led to complete epithelization. PMID:26509020

  9. [Pheochromocytomas as adrenal gland incidentalomas].

    PubMed

    Cerović, Snezana; Cizmić, Milica; Milović, Novak; Ajdinović, Boris; Brajusković, Goran

    2002-07-01

    Adrenal incidentalomas are a heterogeneous group of pathological entities, including benign or malignant adrenocortical or medullary tumors, hormonally active or inactive lesions, which are identified incidentally during the examination of nonadrenal-related abdominal complaints. About 1.5% to 23% of adrenal incidentalomas are pheochromocytomas. Composite pheochromocytoma is a rare tumour of adrenal medulla with divergente clinical course. This type of pheochromocytoma is designated "composite" or "mixed," depending on whether pheochromocytoma and nonpheochromocytoma components show the same embryologic origin. Nonpheochromocytoma components found in the composite pheochromocytoma include ganglioneuroma, ganglioneuroblastoma, neuroblastoma, and malignant schwannoma. The biologic behavior of composite pheochromocytomas may be as difficult to predict as more traditional pheochromocytomas; based on the number of cases reported to date the presence of areas resembling ganglioneuroblastoma or neuroblastoma does not necessary indicate a poor prognosis. Some may behave in a malignant fashion with metastasis by a component of the tumour which has neural features. Pheochromocytomas and paragangliomas are well-defined entities. Some of their nonsporadic associations and unusual morphological appearances are not universally appreciated. We report on a rare association of left adrenal CP, with typical right adrenal phochromocytoma and retroperitoneal paraganglioma, and a review of literature. We analyzed the clinical and immunohistochemical features in a 24-year-old woman with composite pheochromocytoma localized in the left adrenal gland and associated with blood pressure of 200/140 mmHg. Abdominal computed tomography and 131-J MIBG revealed a 65 x 60 mm mass in the right adrenal gland, but no revealed 45 x 40 mm retroperitoneal mass and 20 x 20 mm mass in the left adrenal region. Serum and urinary adrenaline levels were high, and catecholamine levels in the blood sample of

  10. The molecular genetic analysis of the expanding pachyonychia congenita case collection

    PubMed Central

    Wilson, NJ; O'Toole, EA; Milstone, LM; Hansen, CD; Shepherd, AA; Al-Asadi, E; Schwartz, ME; McLean, WHI; Sprecher, E; Smith, FJD

    2014-01-01

    Background Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. Objectives To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry during the last few years. Methods Genomic DNA isolated from saliva or peripheral blood leucocytes was amplified using primers specific for the PC-associated keratin genes and polymerase chain reaction products were directly sequenced. Results Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105. Conclusions By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families. PMID:24611874

  11. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

    PubMed

    Fukumura, Shinobu; Ohba, Chihiro; Watanabe, Toshihide; Minagawa, Kimio; Shimura, Masaru; Murayama, Kei; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi; Tsutsumi, Hiroyuki

    2015-09-01

    Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reported to date. Here, we present two female siblings with arthrogryposis multiplex congenita, optic atrophy and severe mental retardation. The younger sister had a progressive cerebellar atrophy and bilateral neuropathological findings in the brainstem. Although her cerebrospinal fluid (CSF) levels of lactate and pyruvate were not increased, brain magnetic resonance spectroscopy showed a lactate peak. Additionally, her CSF lactate/pyruvate and serum beta-hydroxybutyrate/acetoacetate ratios were high, and levels of oxidative phosphorylation in skin fibroblasts were reduced. We therefore diagnosed Leigh syndrome. Genomic investigation confirmed the presence of compound heterozygous GFM2 mutations (c.206+4A>G and c.2029-1G>A) in both siblings, causing aberrant splicing with premature stop codons (p.Gly50Glufs*4 and p.Ala677Leufs*2, respectively). These findings suggest that GFM2 mutations could be causative of a phenotype of Leigh syndrome with arthrogryposis multiplex congenita.

  12. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene

    PubMed Central

    Alder, Jonathan K.; Parry, Erin M.; Yegnasubramanian, Srinivasan; Wagner, Christa L.; Lieblich, Lawrence M.; Auerbach, Robert; Auerbach, Arleen D.; Wheelan, Sarah J.; Armanios, Mary

    2013-01-01

    Dyskeratosis congenita is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure. We identified two male probands who presented in the fifth decade with idiopathic pulmonary fibrosis and cancer. Their pedigrees displayed consecutively affected generations. Five of six females (83%) manifested mucocutaneous features of dyskeratosis congenita, and two had wound-healing complications. No mutations in autosomal dominant telomere genes were present, but exome sequencing revealed novel variants in the X-chromosome DKC1 gene that predicted missense mutations in conserved residues, p.Thr49Ser and p.Pro409Arg. Variants segregated with the telomere phenotype, and affected females were heterozygotes showing skewed X-inactivation. Telomerase RNA levels were compromised in cells from DKC1 mutation carriers, consistent with their pathogenic role. These findings indicate that females with heterozygous DKC1 mutations may be at increased risk for developing telomere phenotypes that, at times, may be associated with clinical morbidity. PMID:23946118

  13. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  14. Budesonide-related adrenal insufficiency.

    PubMed

    Arntzenius, Alexander; van Galen, Louise

    2015-10-01

    Iatrogenic adrenal insufficiency is a potential harmful side effect of treatment with corticosteroids. It manifests itself when an insufficient cortisol response to biological stress leads to an Addisonian crisis: a life-threatening situation. We describe a case of a patient who developed an Addisonian crisis after inappropriate discontinuation of budesonide (a topical steroid used in Crohn's disease) treatment. Iatrogenic adrenal insufficiency due to budesonide use has been rarely reported. Prescribers should be aware of the resulting risk for an Addisonian crisis.

  15. Compensatory adrenal growth - A neurally mediated reflex

    NASA Technical Reports Server (NTRS)

    Dallman, M. F.; Engeland, W. C.; Shinsako, J.

    1976-01-01

    The responses of young rats to left adrenalectomy or left adrenal manipulation were compared to surgical sham adrenalectomy in which adrenals were observed but not touched. At 12 h right adrenal wet weight, dry weight, DNA, RNA, and protein content were increased (P less than 0.05) after the first two operations. Left adrenal manipulation resulted in increased right adrenal weight at 12 h but no change in left adrenal weight. Sequential manipulation of the left adrenal at time 0 and the right adrenal at 12 h resulted in an enlarged right adrenal at 12 h (P less than 0.01), and an enlarged left adrenal at 24 h (P less than 0.05), showing that the manipulated gland was capable of response. Bilateral adrenal manipulation of the adrenal glands resulted in bilateral enlargement of 12 h (P less than 0.01). Taken together with previous results, these findings strongly suggest that compensatory adrenal growth is a neurally mediated reflex.

  16. Tetralogy of fallot with left heart hypoplasia, total anomalous pulmonary venous return, and right lung hypoplasia: role of magnetic resonance imaging.

    PubMed

    Festa, P; Lamia, A-A; Murzi, B; Bini, M R

    2005-01-01

    We report a rare case of tetralogy of Fallot with total anomalous pulmonary venous return, left heart hypoplasia, right lung hypoplasia, and left ocular-mandibular synchinesia (Marcus-Gunn phenomenon), correctly diagnosed by cardiovascular magnetic resonance imaging and successfully operated by modified Glenn anastomosis.

  17. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  18. Aesthetic approach for anterior teeth with enamel hypoplasia

    PubMed Central

    Martos, Josué; Gewehr, Andréa; Paim, Emanuele

    2012-01-01

    Enamel hypoplasia is a developmental defect of the enamel that is produced by a disturbance in the formation of the organic enamel matrix, clinically visible as enamel defects. Disorders that occur during the stages of enamel development and maturation reduce the amount or thickness of the enamel, resulting in white spots, tiny grooves, depressions and fissures in the enamel surface. The complexity and intensity of the dental deformity lesions will conduct the ideal treatment-associating conservative techniques. This article presents a case report of a restorative treatment of enamel hypoplasia using hybrid composite resin to mask color alteration and enamel defects. An aesthetic appearance that respects the tooth polychromatic and the self-esteem of the patient can be achieved with this approach. PMID:22629075

  19. Hypoplastic area method for analyzing dental enamel hypoplasia.

    PubMed

    Ensor, B E; Irish, J D

    1995-12-01

    Most analyses of dental enamel hypoplasia compare frequencies of disturbed tooth types, which do not account for variability in the area of affected enamel. An alternate methodology, hypoplastic area, is presented here that accounts for this variability by combining acute and continuous enamel hypoplasia into an interval-level variable. The method compares samples based on individuals, by multiple tooth type variables, or by a single value rather than by tooth types. Use of the hypoplastic area method is illustrated by analyzing human skeletal dentitions in three archaeological samples: Meroitic Nubians from Semna South, Sudan; Anasazi from Navajo Reservoir, New Mexico; and Mogollon from Grasshopper Pueblo, Arizona. Both univariate and multivariate statistical tests are employed to assess variation in defects between individuals and samples. By incorporating measurements of continuous defects, the hypoplastic area method provides information beyond that of frequency data in comparing levels of stress. Flexibility of the method is also discussed.

  20. Vertically transmitted hypoplasia of the abdominal wall musculature.

    PubMed

    Chan, Yuin-Chew; Bird, Lynne M

    2004-01-01

    The prune belly syndrome (OMIM 100100) is an association of bladder dilation with hypoplasia of the abdominal wall muscles. This malformation sequence is due to early urethral obstruction. We report a family with abdominal wall muscular hypoplasia as an isolated defect, not associated with the urethral obstruction sequence. The proband is a q3-year-old male who presented with abdominal wall laxity and severe constipation. His mother, maternal grandmother and younger brother had varying degrees of abdominal wall muscular deficiency and constipation. His mother's condition was aggravated by her 2 pregnancies. This family shows vertical transmission (compatible with autosomal dominant or mitochondrial inheritance) of the abdominal phenotype of prune belly sequence without any evidence of urinary tract or renal pathology. The expression in the sons may remain incomplete because abdominal distention due to pregnancy will not occur.

  1. Becker Nevus Syndrome Presented with Ipsilateral Breast Hypoplasia

    PubMed Central

    Pektas, Suzan Demir; Akoglu, Gulsen; Metin, Ahmet; Adiyaman, Nuran Sungu; Demirseren, Mustafa Erol

    2014-01-01

    Becker nevus syndrome (BNS) is a rare epidermal nevus syndrome characterized with Becker nevus and ipsilateral breast gland hypoplasia or other skin, skeletal and/or muscle tissue disorders. A 24-year-old woman presented with brown, irregular bordered patch with a diameter of approximately 10 cm which consisted of several small macules on the left breast skin. The ultrasonography and magnetic resonance imaging revealed left breast hypoplasia. Histopathological examination demonstrated minimal acanthosis, papillomatosis, increase in basal layer melanin and hypertrophy of the erector pili muscle. Immunohistochemical staining was positive for androgen in the epidermis, dermal stromal cells and skin appendages. Depending on the clinical and histopathological findings, the patient was diagnosed as BNS. Diagnosis of BNS needs careful examination of pigmented macules and patches since non-hairy BN may be easily overlooked. Patients with BN should be evaluated for associated abnormalities of BNS, in which the severity and extend of ectodermal involvement may differ from patient to other. PMID:25484431

  2. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    PubMed

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  3. Lung hypoplasia and patellar agenesis in Ehlers-Danlos syndrome.

    PubMed

    Pradhan, P; Deb, J; Deb, R; Chakrabarti, S

    2009-12-01

    A 22-year-old male patient was admitted with severe cough associated with purulent expectoration, left-sided chest pain and breathlessness. There was a history of recurrent respiratory ailments since childhood. The patient appeared younger than his chronological age. His face and ears were both dysmorphic. Clinically, the patient was diagnosed with Ehlers-Danlos syndrome (EDS). Computed tomography of the thoracic region revealed hypoplasia of the left lung and hyperplasia of the right lung. Both the patellae were absent. However, ultrasonography of his abdomen, echocardiography and other routine blood and urine examination showed no gross abnormalities. Although other respiratory tract abnormalities with EDS are not uncommon, unilateral lung hypoplasia and patellar agenesis in EDS make this case unique.

  4. Focal dermal hypoplasia: a case report and literature review.

    PubMed

    Murakami, Christiana; de Oliveira Lira Ortega, Adriana; Guimarães, Antônio Sérgio; Gonçalves-Bittar, Daniela; Bönecker, Marcelo; Ciamponi, Ana Lídia

    2011-08-01

    Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is an autosomal dominant disease affecting tissues derived from the ectoderm and mesoderm. Knowledge and early diagnosis of the craniofacial alterations commonly found in patients with FDH provide oral health care professionals with effective preventive and therapeutic tools. This article aims to review the craniofacial characteristics present in FDH and the main systemic manifestations that have implications for dental management, while presenting a new case of the syndrome with novel oral findings.

  5. Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis

    PubMed Central

    Pasman, Eric A; Heifert, Theresa A; Nylund, Cade M

    2017-01-01

    Focal dermal hypoplasia (FDH) is a rare disorder of the mesodermal and ectodermal tissues. Here we present an eight-year-old female known to have FDH who presents with poor weight gain and dysphagia. She was diagnosed with multiple esophageal papillomas and eosinophilic esophagitis. She was successfully treated with argon plasma coagulation and ingested fluticasone propionate, which has not been described previously in a child.

  6. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

    PubMed

    Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie

    2013-07-01

    Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.

  7. Cushing syndrome due to adrenal tumor

    MedlinePlus

    ... syndrome. It occurs when a tumor of the adrenal gland releases excess amounts of the hormone cortisol. Causes ... hormone cortisol. This hormone is made in the adrenal glands . Too much cortisol can be due to various ...

  8. Adrenal gland disease in ferrets.

    PubMed

    Simone-Freilicher, Elisabeth

    2008-01-01

    Adrenal gland disease in ferrets is unique to this species, with clinical signs and pathophysiology different from those seen in the dog. Its prevalence is increasing; 70% of pet ferrets in the United States were affected in 2003. The exact causes of the adrenal gland changes that lead to the disease are not known. Early oophorohysterectomies and neutering, combined with the artificially prolonged photoperiod experienced by indoor pet ferrets, and a possible genetic component, may be contributing factors. Signs of adrenal gland disease include progressive hair loss, pruritus, lethargy, atrophy, and, in female ferrets, vulvar swelling. An understanding of the signs and physiologic changes is necessary for diagnosis and treatment. A review of anatomy, physiology, and current surgical and medical options is presented.

  9. Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report.

    PubMed

    Wang, T G; Yang, G F; Alba, A

    1994-06-01

    Osteogenesis imperfecta, a rare connective tissue disorder, is known to be associated sometimes with the invagination of the basilar skull. This deformity may disturb respiratory function secondary to brain stem compression and hydrocephalus. In addition, the deformed thoracic cage and fragile ribs make pulmonary care more complicated. A case of 24-year-old man is presented with brain stem compression syndrome secondary to osteogenesis imperfecta congenita with basilar impression. He developed respiratory failure and became tracheostomy positive-pressure ventilator dependent at the age of 21 years. He also suffered multiple skeletal abnormalities and mental retardation, and following the brain stem compression, severe quadriparesis. The patient's condition is stable since he has been using the ventilator and he is currently living in the community.

  10. Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.

    PubMed

    González-Ramos, Jéssica; Sendagorta-Cudós, Elena; González-López, Guillermo; Mayor-Ibarguren, Ander; Feltes-Ochoa, Rosa; Herranz-Pinto, Pedro

    2016-01-01

    Pachyonychia congenita (PC) is a rare genodermatosis caused by a mutation in keratin genes, which can lead to hypertrophic nail dystrophy and focal palmoplantar keratoderma (predominantly plantar), amongst other manifestations. Painful blisters and callosities, sometimes exacerbated by hyperhidrosis, are major issues that can have a significant impact on patient quality of life. Many alternative treatments for this condition have been applied with variable and partial clinical response, but a definitive cure for this disease has yet to be discovered. After obtaining informed consent, two patients with genetically confirmed PC type 1 were treated with plantar injections of botulinum toxin type A. Both patients showed a marked improvement in pain and blistering with an average response time of one week, a six-month mean duration of effectiveness, and a lack of any side effects or tachyphylaxis.

  11. Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.

    PubMed

    Tariq, Sarah; Schmitz, Michael L; Kanjia, Megha Karkera

    2016-05-15

    We report the case of an 11-year-old girl who presented to our multidisciplinary pain center with the chief complaint of chronic bilateral foot pain because of a rare congenital keratin disorder. This patient had been diagnosed with pachyonychia congenita, an extremely rare genetic disorder primarily affecting the skin and nails. The child had bilateral foot pain for years because of the characteristic blisters and calluses on the soles of her feet. Chronic pain was negatively impacting her quality of life; she was severely limited in her activities of daily living secondary to pain. Furthermore, she reported absenteeism from school, lack of social activities, and frequent nighttime awakenings. We discuss the successful management of her chronic foot pain using a multimodal, multidisciplinary approach.

  12. Adrenal myelolipoma with osseous metaplasia and hypercortisolism

    PubMed Central

    Kumar, Ujwal; Priyadarshi, Shivam; Tomar, Vinay; Vohra, Rishi Raj

    2017-01-01

    Adrenal myelolipomas are rare adrenal tumors generally diagnosed incidentally. A 42-year-old female reported to us with complaints of left flank pain attributable to her left ureteric calculi. On evaluation, a large adrenal mass was diagnosed along with hypercortisolism. After adrenalectomy, the histopathology revealed adrenal myelolipoma along with osseous metaplasia not reported in English literature, to the best of our knowledge till date. PMID:28216934

  13. OPEN REDUCTION OF HIP DISLOCATION IN PATIENTS WITH ARTHROGRYPOSIS MULTIPLEX CONGENITA – AN ANTEROMEDIAL APPROACH

    PubMed Central

    Rocha, Luis Eduardo Munhoz da; Nishimori, Fábio Koiti; Figueiredo, Daniel Carvalho de; Grimm, Dulce Helena; Cunha, Luiz Antonio Munhoz da

    2015-01-01

    To evaluate the results from surgical treatment of hip dislocation through the anteromedial approach, in patients with arthrogryposis multiplex congenita (AMC). Methods: The medical files and radiographs of seven children with AMC who presented hip dislocation (total of 10 dislocated hips) were retrospectively reviewed. Pre and postoperative joint mobility was evaluated by summing the joint range of motion in flexion and abduction. The acetabular angle and height of the femoral neck before the operation, and the continuity of the Shenton arc, Sharp angle and center-edge (CE) angle after the operation, were evaluated radiographically. When avascular necrosis was identified, it was classified in accordance with Ogden and Bucholz. Results: The mean age of the children at the time of the surgery was 5.5 months (range: 3 to 11 months). The mean duration of follow-up for the patients was 9.5 years (range: 2 to 13 years). The mean amplitude of the sum of the joint range of motion in flexion and abduction in the preoperative examination was 108° (range: 70° to 155°) and postoperatively, it was 125° (range: 75° to 175°). In the last evaluation, eight hips were found to be centered and two were subluxated. Two hips had been subjected to Salter iliac osteotomy. Two hips (20%) had presented significant signs of Ogden type IV avascular necrosis. Eight hips had good results while two were fair. Conclusion: We consider that the anteromedial approach is a good option for treating hip dislocation in very young patients with arthrogryposis multiplex congenita. PMID:27022586

  14. [Immunoendocrine associations in adrenal glands].

    PubMed

    Sterzl, I; Hrdá, P

    2010-12-01

    Immune and endocrine systems are basic regulatory mechanisms of organism and, including the nervous system, maintain the organism's homeostasis. The main immune system representatives are mononuclear cells, T- and B-cells and their products, in the endocrine system the main representatives are cells of the glands with inner secretion and their products. One of the most important glands for maintaining homeostasis are adrenal glands. It has been proven that either cells of the immune system, either endocrine cells can, although in trace amounts, produce mutually mediators of both systems (hormones, cytokines). Disorders in one system can lead to pathological symptoms in the other system. Also here represent adrenals an important model.

  15. Spontaneous bilateral adrenal hemorrhage following cholecystectomy

    PubMed Central

    Dahan, Meryl; Lim, Chetana; Salloum, Chady

    2016-01-01

    Postoperative bilateral adrenal hemorrhage is a rare but potentially life-threatening complication. This diagnosis is often missed because the symptoms and laboratory results are usually nonspecific. We report a case of bilateral adrenal hemorrhage associated with acute primary adrenal insufficiency following laparoscopic cholecystectomy. The knowledge of this uncommon complication following any abdominal surgery allows timey diagnosis and rapid treatment. PMID:27275469

  16. The adrenal glands and their functions.

    PubMed

    De Silva, Deepthi C; Wijesiriwardene, Bandula

    2007-09-01

    The adrenal glands secrete hormones essential for metabolism, regulation of blood pressure, and sodium and glucose homeostasis. Hypo- or hypersecretion of these hormones is life threatening. Understanding the physiological functions of adrenal hormones is a prerequisite to the management of adrenal gland disease.

  17. Spontaneous Retroperitoneal Hemorrhage from Adrenal Artery Aneurysm

    SciTech Connect

    Gonzalez Valverde, F.M. Balsalobre, M.; Torregrosa, N.; Molto, M.; Gomez Ramos, M.J.; Vazquez Rojas, J.L.

    2007-04-15

    Spontaneous adrenal hemorrhage is a very rare but serious disorder of the adrenal gland that can require emergent treatment. We report on a 42-year-old man who underwent selective angiography for diagnosis and treatment of retroperitoneal hemorrhage from small adrenal artery aneurysm. This case gives further details about the value of transluminal artery embolization in the management of visceral aneurysm rupture.

  18. Spontaneous bilateral adrenal hemorrhage following cholecystectomy.

    PubMed

    Dahan, Meryl; Lim, Chetana; Salloum, Chady; Azoulay, Daniel

    2016-06-01

    Postoperative bilateral adrenal hemorrhage is a rare but potentially life-threatening complication. This diagnosis is often missed because the symptoms and laboratory results are usually nonspecific. We report a case of bilateral adrenal hemorrhage associated with acute primary adrenal insufficiency following laparoscopic cholecystectomy. The knowledge of this uncommon complication following any abdominal surgery allows timey diagnosis and rapid treatment.

  19. Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

    PubMed

    Fink, Cassandra; Borchert, Mark; Simon, Carrie Zaslow; Saper, Clifford

    2015-02-01

    This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.

  20. Active and suppressor T cells: diminution in a patient with dyskeratosis congenita and in first-degree relatives.

    PubMed

    Fudenberg, H H; Goust, J M; Vesole, D H; Salinas, C F

    1979-01-01

    Active, total and nonspecific suppressor T cells were studied in a 15-year-old black male with dyskeratosis congenita syndrome, a precancerous mucosal disease, and in 7 siblings and several other relatives in three generations. The propositus and 1 elder sister, products of a second-cousin marriage, died with dyskeratosis congenita. The mother had dermatomyositis, and the maternal grandmother and her sister reportedly had rheumatoid arthritis. Studies of available siblings, father, and grandparents revealed a high incidence of deficiency in number of active and/or suppressor T cells, sometimes severe enough to result in a decrease in total T cells. The patient had many stigmata of precocious aging, as did the sibling who died with the same syndrome. The laboratory data suggest that a defect in cell-mediated immunity, involving mainly or exclusively suppressor T cells, is associated with, and is presumably the cause of, precocious aging; perhaps an abiotrophy in this cell subpopulation results in physiologic aging.

  1. Anesthetic Considerations on Adrenal Gland Surgery

    PubMed Central

    Domi, Rudin; Sula, Hektor; Kaci, Myzafer; Paparisto, Sokol; Bodeci, Artan; Xhemali, Astrit

    2015-01-01

    Adrenal gland surgery needs a multidisciplinary team including endocrinologist, radiologist, anesthesiologist, and surgeon. The indications for adrenal gland surgery include hormonal secreting and non-hormonal secreting tumors. Adrenal hormonal secreting tumors present to the anesthesiologist unique challenges requiring good preoperative evaluation, perioperative hemodynamic control, corrections of all electrolytes and metabolic abnormalities, a detailed and careful anesthetic strategy, overall knowledge about the specific diseases, control and maintaining of postoperative adrenal function, and finally a good collaboration with other involved colleagues. This review will focus on the endocrine issues, as well as on the above-mentioned aspects of anesthetic management during hormone secreting adrenal gland tumor resection. PMID:25368694

  2. [Frequency of Kongenital Adrenal Hyperplasia (author's transl)].

    PubMed

    Müller, W; Prader, M; Kofler, J; Glatzl, J; Geir, W

    1979-01-01

    The frequency of homozygous congenital adrenal hyperplasia in Tyrol is found to be 1 : 8991, the gene-frequency for congenital adrenal hyperplasia 1 : 95 and the frequency of heterozygous congenital adrenal hyperplasia 1 : 48. Our data is compared on a numerical and statistical base with that in Zürich and Munich with regard to the frequency of congenital adrenal hyperplasia, to its distribution with and without salt loss and to its sex-distribution. According to our study one may assume a frequency of homozygous congenital adrenal hyperplasia in Tyrol, Zürich and Munich of 1 : 7000--10,000.

  3. An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?

    PubMed

    Jackson, Jessica; Delk, Paula; Farrow, Emily; Griffith, Christopher; Lah, Melissa; Weaver, David D

    2015-04-01

    We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, aplasia cutis congenita, Tessier 3 oblique facial cleft, polydactyly, and syndactyly of toes. The polydactyly is unusual as an accessory finger is attached to the left fifth finger with mirrored, end-to-end fusion. We are naming this anomaly "polydactyly inversus." The infant appears to have a previously unreported syndrome of unknown cause.

  4. A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

    PubMed Central

    Kusano, Chieko; Takagi, Masaki; Hori, Naoaki; Murotsuki, Jun; Nishimura, Gen; Hasegawa, Tomonobu

    2017-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC. PMID:28265456

  5. Adrenal Insufficiency and Addison's Disease

    MedlinePlus

    ... used if the diagnosis remains unclear. What other tests might a health care provider perform after diagnosis of adrenal insufficiency? After ... skin. A nurse or lab technician performs the test in a health care provider’s office; a patient does not need anesthesia. ...

  6. Myotonia Congenita

    MedlinePlus

    ... Association National Office - 222 S. Riverside Plaza Suite 1500 Chicago IL Chicago, IL 60606 mda@mdausa.org http://www.mda. ... Association National Office - 222 S. Riverside Plaza Suite 1500 Chicago IL Chicago, IL 60606 mda@mdausa.org http:// ...

  7. [Pachyonychia congenita].

    PubMed

    Alperovich, B A; de los Rios, E H; Conejos, M

    1981-01-01

    The authors describe a new case of this unusual disease, which correspond to a three years old girl, derived from a family without others observations nor consaguinity between her parents. The clinic-neurological examen was normal. The typical dermatological lesions were quite clear to the diagnostic. The pathological anatomy showed the typical structure.

  8. Adrenal adrenoceptors in heart failure

    PubMed Central

    de Lucia, Claudio; Femminella, Grazia D.; Gambino, Giuseppina; Pagano, Gennaro; Allocca, Elena; Rengo, Carlo; Silvestri, Candida; Leosco, Dario; Ferrara, Nicola; Rengo, Giuseppe

    2014-01-01

    Heart failure (HF) is a chronic clinical syndrome characterized by the reduction in left ventricular (LV) function and it represents one of the most important causes of morbidity and mortality worldwide. Despite considerable advances in pharmacological treatment, HF represents a severe clinical and social burden. Sympathetic outflow, characterized by increased circulating catecholamines (CA) biosynthesis and secretion, is peculiar in HF and sympatholytic treatments (as β-blockers) are presently being used for the treatment of this disease. Adrenal gland secretes Epinephrine (80%) and Norepinephrine (20%) in response to acetylcholine stimulation of nicotinic cholinergic receptors on the chromaffin cell membranes. This process is regulated by adrenergic receptors (ARs): α2ARs inhibit CA release through coupling to inhibitory Gi-proteins, and β ARs (mainly β2ARs) stimulate CA release through coupling to stimulatory Gs-proteins. All ARs are G-protein-coupled receptors (GPCRs) and GPCR kinases (GRKs) regulate their signaling and function. Adrenal GRK2-mediated α2AR desensitization and downregulation are increased in HF and seem to be a fundamental regulator of CA secretion from the adrenal gland. Consequently, restoration of adrenal α2AR signaling through the inhibition of GRK2 is a fascinating sympatholytic therapeutic strategy for chronic HF. This strategy could have several significant advantages over existing HF pharmacotherapies minimizing side-effects on extra-cardiac tissues and reducing the chronic activation of the renin–angiotensin–aldosterone and endothelin systems. The role of adrenal ARs in regulation of sympathetic hyperactivity opens interesting perspectives in understanding HF pathophysiology and in the identification of new therapeutic targets. PMID:25071591

  9. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

    PubMed Central

    2013-01-01

    Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. Results Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. Conclusions The study describes the clinical and

  10. Ehrlichiosis: a cause of bone marrow hypoplasia in humans.

    PubMed

    Pearce, C J; Conrad, M E; Nolan, P E; Fishbein, D B; Dawson, J E

    1988-05-01

    Infection with Ehrlichia canis should be suspected in patients with fever, headache, malaise, leukopenia, thrombocytopenia, and a history of recent exposure to ticks. The cytopenia is caused by bone marrow hypoplasia which may be severe. The disease may be confused with spotless Rocky Mountain spotted fever but can be differentiated from this infection serologically with acute and convalescent sea. In humans, recovery has occurred with and without antibiotic therapy. However, prompt antibiotic therapy is advised prior to serologic studies, especially in immunocompromised individuals, splenectomized persons, and patients with AIDS-who may develop a more overwhelming rickettsial infection.

  11. Congenital torticollis due to sternomastoid aplasia with unilateral cerebellar hypoplasia: a rare association.

    PubMed

    Kumar, V R Ravi; Sabapathy, S Raja; Duraisami, Vijayagiri

    2012-10-01

    Congenital torticollis is most commonly caused by sternomastoid contracture. Aplasia of sternomastoid muscle causing congenital torticollis, though rare, has been reported. However the association of cerebellar hypoplasia with sternomastoid aplasia is extremely rare. The authors describe a case of congenital torticollis due to absence of the left sternomastoid with ipsilateral cerebellar hypoplasia, confirmed by MRI.

  12. Oral phenotype and variation in focal dermal hypoplasia.

    PubMed

    Wright, John Timothy; Puranik, Chaitanya P; Farrington, Frank

    2016-03-01

    Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

  13. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    PubMed

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

  14. Rare adrenal tumors in children.

    PubMed

    Mihai, Radu

    2014-04-01

    Apart from neuroblastomas, adrenal tumors are exceedingly rare in children and young adults. In this age group, the vast majority of patients present with clinical signs associated with excess hormone production. The most common tumor to arise from the adrenal cortex is an adrenocortical carcinoma (ACC). Similar to the situation in adults, this tumor is frequently diagnosed at a late stage and carries a very poor prognosis. ACCs require extensive/aggressive local resection followed by mitotane chemotherapy. A multidisciplinary approach is essential, and these children should be referred to units that have previous experience in managing ACCs. International registries are an invaluable source for evidence-based care, and such collaborations should be further developed in the future. Pheochromocytomas are derived from the adrenal medulla and present with symptoms caused by high secretion of catecholamines. At least one-third of these children will be found to carry genetic mutations, most commonly the RET gene (MEN2 syndrome) or the VHL gene. Open radical adrenalectomy should be offered to children with adrenocortical cancers. For all other cases, laparoscopic adrenalectomy is the treatment of choice. It is possible that the retroperitoneoscopic approach will gain increasing favor. The role of robotic adrenalectomy remains controversial.

  15. Primitive neuroectodermal adrenal gland tumour.

    PubMed

    Tsang, Y P; Lang, Brian H H; Tam, S C; Wong, K P

    2014-10-01

    Ewing's sarcoma, also called primitive neuroectodermal tumour of the adrenal gland, is extremely rare. Only a few cases have been reported in the literature. We report on a woman with adult-onset primitive neuroectodermal tumour of the adrenal gland presenting with progressive flank pain. Computed tomography confirmed an adrenal tumour with invasion of the left diaphragm and kidney. Radical surgery was performed and the pain completely resolved; histology confirmed the presence of primitive neuroectodermal tumour, for which she was given chemotherapy. The clinical presentation of this condition is non-specific, and a definitive diagnosis is based on a combination of histology, as well as immunohistochemical and cytogenic analysis. According to the literature, these tumours demonstrate rapid growth and aggressive behaviour but there are no well-established guidelines or treatment strategies. Nevertheless, surgery remains the mainstay of local disease control; curative surgery can be performed in most patients. Adjuvant chemoirradiation has been advocated yet no consensus is available. The prognosis of patients with primitive neuroectodermal tumours remains poor.

  16. Laparoscopic Resection of an Adrenal Schwannoma

    PubMed Central

    Konstantinos, Toutouzas G.; Panagiotis, Kekis B.; Nikolaos, Michalopoulos V.; Ioannis, Flessas; Andreas, Manouras; Geogrios, Zografos

    2012-01-01

    Background and Objectives: Schwannomas are tumors originating from Schwann cells of the peripheral nerve sheath (neurilemma) of the neuroectoderm. Rarely, schwannomas can arise from the retroperitoneum and adrenal medulla. We describe a case of a 71-y-old woman who presented with an incidentally discovered adrenal tumor. Methods: Ultrasound and computed tomography scans revealed a lesion with solid and cystic areas originating from the left adrenal gland. The patient underwent complete laparoscopic resection of the tumor and the left adrenal gland. Results: Histopathological examination and immunohistochemical staining of the excised specimen revealed a benign schwannoma measuring 5.5×5×3.7 cm. To our knowledge, few other cases of laparoscopic resection of adrenal schwannomas have been reported. Conclusion: Because preoperative diagnosis of adrenal tumors is inconclusive, complete laparoscopic excision allows for definitive diagnosis with histological evaluation and represents the treatment of choice. PMID:23484583

  17. Occult adrenal insufficiency in surgical patients.

    PubMed Central

    Hubay, C A; Weckesser, E C; Levy, R P

    1975-01-01

    Eight patients admitted to a University hospital with acute surgical problems and related adrenal insufficiency were reviewed and three are presented in detail. Surgical stress and continued sepsis played major roles in the lack of responsiveness to usual modes of therapy until the adrenal insufficiency was corrected. The patients fell into three major clinical categories of adrenal insufficiency. Chronic illness and sepsis are shown to affect steroid production and metabolism, as well as adrenal responsiveness to ACTH. Pharmacologic amounts of steroids are often needed in patients with shock, gram negative sepsis and prolonged illnesses, even if normal or elevated serum cortisols are present. Therapeutic trials of cortisol administration are shown to be confusing when not accompanied by easily performed diagnostic tests of adrenal function. It is emphasized that a pretreatment serum cortisol should be obtained whenever possible. The evaluation of adrenal function is of lifelong importance to the patient. PMID:165792

  18. [Development of the human adrenal glands].

    PubMed

    Folligan, K; Bouvier, R; Targe, F; Morel, Y; Trouillas, J

    2005-09-01

    The human adrenal is an endocrine gland located at the superior part of the kidney. Composed of the adrenal cortex of mesoblastic origin and the adrenal medulla of neuroectoblastic origin, the human fetal adrenal grows considerably during the first three months of development. From 12 to 18 weeks of development (WD), the weight of the adrenals increases seven-fold. The gland's weight doubles from 18 to 28 WD and from 28 to 36 WD. At birth, the two adrenals weigh on average 10 g. At the 8th week, two zones are individualized in the adrenal cortex: the definitive zone and the fetal inner zone. At the second trimester, according to ultrastructural and biochemical studies, a third zone, called the transition zone, is individualized between the definitive zone and the fetal inner zone. The definitive zone persists, but the origin of the three zones (glomerular, fascicular and reticular) of adult adrenal cortex is not known. The fetal inner zone regresses from the 5th month of gestation and disappears totally one year after birth. At the 8th week, the immature neuroblasts migrate to the definitive zone, then to the fetal inner zone to compose the adrenal medulla, which develops essentially after birth and during the first year. Before the 10th week, the human fetal adrenal is able to produce steroid hormones, in particular dehydroepiandrosterone sulfate (DHEA-S); the secretion of cortisol remains discussed. The development of the human fetal adrenal is complex and is under the control of hormones (ACTH, LH and betaHCG), growth factors (ACTH essentially) and transcription factors (essentially SF1 and DAX-1). Knowledge of morphological and molecular phenomena of this development permits to understand the pathophisiology of congenital adrenal deficiencies.

  19. Metabolism of adrenal cholesterol in man

    PubMed Central

    Borkowski, Abraham; Delcroix, Claude; Levin, Sam

    1972-01-01

    The kinetics of plasma and adrenal cholesteral equilibration were analyzed in patients undergoing bilateral adrenalectomy for generalized mammary carcinoma. A biological model is proposed to help in the understanding of adrenal cholesterol physiology. It comprises two intracellular compartments: (1) A compartment of free adrenal cholesterol which is small (of the order of 17 mg) but turns over very fast; it is renewed approximately 8 times per day: 3 times by the inflow of free plasma cholesterol, and 5 times by the hydrolysis of esterified adrenal cholesterol, the contribution of adrenal cholesterol synthesis appearing to be relatively small. (2) A compartment of esterified adrenal cholesterol which is 20 times larger; it is constantly renewed by in situ esterification and hydrolysis with a daily fractional turnover rate of the order of 0.25. The direct and selective accumulation of plasma cholesteryl esters is practically absent. Only free adrenal cholesterol returns to plasma, mostly after conversion into steroid “hormones.” However small the synthesis of adrenal cholesterol may be, it seems more important in the zona “reticularis.” On the other hand, the inflow of plasma cholesterol and the turnover of the free adrenal compartment tend to be faster in the zona “fasciculata.” The equilibration of plasma and adrenal cholesterol can proceed unmodified under conditions of ACTH suppression. In one patient with Cushing's disease the size of the two adrenal compartments was clearly increased but their equilibration with plasma cholesterol proceeded normally. In another patient the kinetics of hydrocortisone corresponded to those of free adrenal cholesterol in the control studies. PMID:4338119

  20. Disabling foot cramping in a runner secondary to paramyotonia congenita: a case report.

    PubMed

    Fredericson, Michael; Kim, Byung-Jo; Date, Elaine S

    2004-07-01

    An 18-year-old male runner was referred to the authors' clinic with a 1-year history of cramping left foot pain. His symptoms developed insidiously when he increased his training, with an onset of severe left foot pain and tightness that would develop after about 20 minutes of exercise. The more he continued to run, the more the symptoms were aggravated and evolved to the toes curling with intrinsic muscle spasm. This symptom was easily provoked when he was exposed to cold temperature. A family history of similar symptoms was revealed in his sister and uncle. Physical examination including neurologic examination was normal. Diagnostic workup revealed generalized myotonia. According to the history, physical examination, and diagnostic workup, his diagnosis was considered to be most compatible to paramyotonia congenita. He was given phenytoin, which lessened his symptoms and allowed him to continue running with minimal symptoms, but he stopped running because he was not able to maintain mileage high enough to compete successfully.

  1. Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

    PubMed Central

    Jacobson, Leslie; Polizzi, Agata; Morriss-Kay, Gillian; Vincent, Angela

    1999-01-01

    Arthrogryposis multiplex congenita (AMC) is characterized by fixed joint contractures and other deformities, sometimes resulting in fetal death. The cause is unknown in most cases, but some women with fetuses affected by severe AMC have serum antibodies that inhibit fetal acetylcholine receptor (AChR) function, and antibodies to fetal antigens might play a pathogenic role in other congenital disorders. To investigate this possibility, we have established a model by injecting pregnant mice with plasma from four anti-AChR antibody–positive women whose fetuses had severe AMC. We found that human antibodies can be transferred efficiently to the mouse fetus during the last few days of fetal life. Many of the fetuses of dams injected with AMC maternal plasmas or Ig were stillborn and showed fixed joints and other deformities. Moreover, similar changes were found in mice after injection of a serum from one anti-AChR antibody–negative mother who had had four AMC fetuses. Thus, we have confirmed the role of maternal antibodies in cases of AMC associated with maternal anti-AChR, and we have demonstrated the existence of pathogenic maternal factors in one other case. Importantly, this approach can be used to look at the effects of other maternal human antibodies on development of the fetus. PMID:10194476

  2. Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

    PubMed

    McLean, W H Irwin; Smith, Frances J D; Cassidy, Andrew J

    2005-10-01

    Keratins are the intermediate filament proteins specifically expressed by epithelial cells. The Human Genome Project has uncovered a total of 54 functional keratin genes that are differentially expressed in specific epithelial structures of the body, many of which involve the epidermis and its appendages. Pachyonychia congenita (PC) is a group of autosomal dominant genodermatoses affecting the nails, thick skin and other ectodermal structures, according to specific sub-type. The major clinical variants of the disorder (PC-1 and PC-2) are known to be caused by dominant-negative mutations in one of four differentiation-specific keratins: K6a, K6b, K16, and K17. A total of 20 human keratin genes are currently linked to single-gene disorders or are predisposing factors in complex traits. In addition, a further six intermediate filament genes have been linked to other non-epithelial genetic disorders. We have established a comprehensive mutation database that catalogs all published independent occurrences of intermediate filament mutations (http://www.interfil.org), with details of phenotypes, published papers, patient support groups and other information. Here, we review the genotype-phenotype trends emerging from the spectrum of mutations in these genes and apply these correlations to make predictions about PC phenotypes based on the site of mutation and keratin pair involved.

  3. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

    PubMed

    Ravenscroft, Gianina; Di Donato, Nataliya; Hahn, Gabriele; Davis, Mark R; Craven, Paul D; Poke, Gemma; Neas, Katherine R; Neuhann, Teresa M; Dobyns, William B; Laing, Nigel G

    2016-11-01

    Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements. Both cases were diagnosed at birth with arthrogryposis multiplex congenita (AMC) and hypotonia. Other variable features included congenital fractures, hip dislocation, micrognathia, respiratory insufficiency, microcephaly and bilateral perisylvian polymicrogyria. Patient 1 is 4 years of age and stable, but shows significant motor developmental delay and delayed speech. Patient 2 passed away at 7 weeks of age. Through next generation sequencing we identified the same missense substitution in BICD2 (p.Arg694Cys) in both probands. Sanger sequencing showed that in both cases the mutation arose de novo. The in utero onset in both cases suggests that the p.Arg694Cys substitution may have a more deleterious effect on BICD2 function than previously described mutations. Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1.

  4. A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

    PubMed Central

    Gandolfi, Barbara; Daniel, Rob J.; O'Brien, Dennis P.; Guo, Ling T.; Youngs, Melanie D.; Leach, Stacey B.; Jones, Boyd R.; Shelton, G. Diane; Lyons, Leslie A.

    2014-01-01

    Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a ‘swarm of bees’. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase) domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified. PMID:25356766

  5. A novel mutation in CLCN1 associated with feline myotonia congenita.

    PubMed

    Gandolfi, Barbara; Daniel, Rob J; O'Brien, Dennis P; Guo, Ling T; Youngs, Melanie D; Leach, Stacey B; Jones, Boyd R; Shelton, G Diane; Lyons, Leslie A

    2014-01-01

    Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a 'swarm of bees'. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase) domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified.

  6. Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

    PubMed Central

    Wong, Judy M.Y.; Collins, Kathleen

    2006-01-01

    Dyskeratosis congenita (DC) patients suffer a progressive and ultimately fatal loss of hematopoietic renewal correlating with critically short telomeres. The predominant X-linked form of DC results from substitutions in dyskerin, a protein required both for ribosomal RNA (rRNA) pseudouridine modification and for cellular accumulation of telomerase RNA (TER). Accordingly, alternative models have posited that the exhaustion of cellular renewal in X-linked DC arises as a primary consequence of ribosome deficiency or telomerase deficiency. Here we test, for the first time, whether X-linked DC patient cells are compromised for telomerase function at telomeres. We show that telomerase activation in family-matched control cells allows telomere elongation and telomere length maintenance, while telomerase activation in X-linked DC patient cells fails to prevent telomere erosion with proliferation. Furthermore, we demonstrate by phenotypic rescue that telomere defects in X-linked DC patient cells arise solely from reduced accumulation of TER. We also show that X-linked DC patient cells averted from premature senescence support normal levels of rRNA pseudouridine modification and normal kinetics of rRNA precursor processing, in contrast with phenotypes reported for a proposed mouse model of the human disease. These findings support the significance of telomerase deficiency in the pathology of X-linked DC. PMID:17015423

  7. Linkage disequilibrium mapping of the cornea plana congenita gene CNA2

    SciTech Connect

    Tahvanainen, E.; Karila, E.; Kolehmainen, J.

    1995-12-10

    We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype and linkage disequilibrium information that can be derived from the genetically isolated Finnish population and its subpopulations. By testing 32 independent families with 10 polymorphic markers in the CNA2 interval, strong allelic association between CNA2 and a set of markers with a peak at marker D12S351 was detected. Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length. These results provide a basis for highly focused positional cloning of CNA2. 18 refs., 5 figs., 1 tab.

  8. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

    PubMed

    Leachman, Sancy A; Hickerson, Robyn P; Hull, Peter R; Smith, Frances J D; Milstone, Leonard M; Lane, E Birgitte; Bale, Sherri J; Roop, Dennis R; McLean, W H Irwin; Kaspar, Roger L

    2008-09-01

    The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases have been genetically defined, but little progress has been made with respect to the clinical application of this knowledge. A notable exception to this exists for pachyonychia congenita (PC), a rare, dominant-negative keratin disorder. The establishment of a non-profit organization, PC Project, has led to an unprecedented coalescence of patients, scientists, and physicians with a unified vision of developing novel therapeutics for PC. Utilizing the technological by-products of the human genome project, such as RNA interference (RNAi) and quantitative RT-PCR (qRT-PCR), physicians and scientists have collaborated to create a candidate siRNA therapeutic that selectively inhibits a mutant allele of KRT6A, the most commonly affected PC keratin. In vitro investigation of this siRNA demonstrates potent inhibition of the mutant allele and reversal of the cellular aggregation phenotype. In parallel, an allele-specific quantitative real-time RT-PCR assay has been developed and validated on patient callus samples in preparation for clinical trials. If clinical efficacy is ultimately demonstrated, this "first-in-skin" siRNA may herald a paradigm shift in the treatment of dominant-negative genetic disorders.

  9. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

    PubMed Central

    Marrone, Anna; Walne, Amanda; Tamary, Hannah; Masunari, Yuka; Kirwan, Michael; Beswick, Richard; Vulliamy, Tom; Dokal, Inderjeet

    2010-01-01

    Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased predisposition to malignancy. X-linked DC is due to mutations in DKC1, while heterozygous mutations in TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) have been found in autosomal dominant DC. Many patients with DC remain uncharacterized, particularly families displaying autosomal recessive (AR) inheritance. We have now identified novel homozygous TERT mutations in 2 unrelated consanguineous families, where the index cases presented with classical DC or the more severe variant, Hoyeraal-Hreidarsson (HH) syndrome. These TERT mutations resulted in reduced telomerase activity and extremely short telomeres. As these mutations are homozygous, these patients are predicted to have significantly reduced telomerase activity in vivo. Interestingly, in contrast to patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patients were observed to have higher-than-expected TERC levels compared with controls. Collectively, the findings from this study demonstrate that homozygous TERT mutations, resulting in a pure but severe telomerase deficiency, produce a phenotype of classical AR-DC and its severe variant, the HH syndrome. PMID:17785587

  10. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.

    PubMed

    Lin, Jeng-Hsien; Lee, J Yu-Yun; Tsao, Chao-Jung; Chao, Sheau-Chiou

    2002-11-01

    Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. Recent studies demonstrated mutations in the DKC1 gene encoding a protein named dyskerin, which is a component of human telomerase. In addition to the hypothesized function of pseudouridination in rRNA biosynthesis, ribosomal subunit assembly, and/or centromere/ microtubule binding, lower levels of telomerase activity in cells from patients with X-linked DKC have been observed. We report the mutation analysis of a Taiwanese family with X-linked DKC. The patient was a 19-year-old man who presented with progressive reticulate hyperpigmentation, nail dystrophy, alopecia, leukoplakia of the tongue, and pancytopenia. He died of enterocolitis and Escherichia coli sepsis at the age of 20 years. Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene. Recent advances in the research of telomerase and its implications in the human aging process and cancer are discussed.

  11. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

    PubMed

    Alder, Jonathan K; Parry, Erin M; Yegnasubramanian, Srinivasan; Wagner, Christa L; Lieblich, Lawrence M; Auerbach, Robert; Auerbach, Arleen D; Wheelan, Sarah J; Armanios, Mary

    2013-11-01

    Dyskeratosis congenita (DC) is a telomere-mediated syndrome defined by mucocutaneous features. The X-linked mode of inheritance accounts for half the cases, and is thought to predominantly manifest in childhood as bone marrow failure. We identified two male probands who presented in the fifth decade with idiopathic pulmonary fibrosis and cancer. Their pedigrees displayed consecutively affected generations. Five of six females (83%) manifested mucocutaneous features of DC, and two had wound-healing complications. No mutations in autosomal dominant telomere genes were present, but exome sequencing revealed novel variants in the X-chromosome DKC1 gene that predicted missense mutations in conserved residues, p.Thr49Ser and p.Pro409Arg. Variants segregated with the telomere phenotype, and affected females were heterozygotes, showing skewed X-inactivation. Telomerase RNA levels were compromised in cells from DKC1 mutation carriers, consistent with their pathogenic role. These findings indicate that females with heterozygous DKC1 mutations may be at increased risk for developing penetrant telomere phenotypes that, at times, may be associated with clinical morbidity.

  12. Adrenal scan in 17-alpha-hydroxylase deficiency: false indication of adrenal adenoma

    SciTech Connect

    Shore, R.M.; Lieberman, L.M.; Newman, T.J.; Friedman, A.; Bargman, G.J.

    1981-07-01

    A patient who was thought to have testicular feminization syndrome and primary aldosteronism had an adrenal scan that suggested an adrenal adenoma. After later diagnosis of 17-alpha-hydroxylase deficiency, she was treated with glucocorticoids rather than surgery. Her clinical course and a repeat adrenal scan confirmed she did not have a tumor.

  13. Imaging of adrenal and renal hemorrhage.

    PubMed

    Hammond, Nancy A; Lostumbo, Antonella; Adam, Sharon Z; Remer, Erick M; Nikolaidis, Paul; Yaghmai, Vahid; Berggruen, Senta M; Miller, Frank H

    2015-10-01

    Hemorrhage of the kidneys and adrenal glands has many etiologies. In the adrenal glands, trauma, anticoagulation, stress, sepsis, surgery, and neoplasms are common causes of hemorrhage. In the kidneys, reasons for hemorrhage include trauma, bleeding diathesis, vascular diseases, infection, infarction, hemorrhagic cyst rupture, the Antopol-Goldman lesion, and neoplasms. Angiomyolipoma and renal cell carcinoma are the neoplasms most commonly associated with hemorrhage in the kidneys and adrenal cortical carcinoma, metastases, and pheochromocytoma are associated with hemorrhage in the adrenal glands. Understanding the computed tomography and magnetic resonance imaging features, and causes of hemorrhage in the kidneys and adrenal glands is critical. It is also important to keep in mind that mimickers of hemorrhage exist, including lymphoma in both the kidneys and adrenal glands, and melanoma metastases in the adrenal glands. Appropriate imaging follow-up of renal and adrenal hemorrhage should occur to exclude an underlying malignancy as the cause. If there is suspicion for malignancy that cannot be definitively diagnosed on imaging, surgery or biopsy may be warranted. Angiography may be indicated when there is a suspected underlying vascular disease. Unnecessary intervention, such as nephrectomy, may be avoided in patients with benign causes or no underlying disease. Appropriate management is dependent on accurate diagnosis of the cause of renal or adrenal hemorrhage and it is incumbent upon the radiologist to determine the etiology.

  14. The adrenal medulla and Parkinson's disease.

    PubMed

    Stoddard, S L

    1994-01-01

    This paper reviews the literature describing the condition of the adrenal medulla in Parkinson's disease. Parkinson's disease is a neurodegenerative disorder that is characterized primarily by the loss of dopaminergic neurons in the substantia nigra. Clinical observations have revealed that Parkinson's disease is also frequently accompanied by a variety of autonomic symptoms. The adrenal medulla is a major component of the autonomic nervous system. However, until recently this organ has not been of particular interest in Parkinson's disease. Early studies found histologic abnormalities in adrenal medullary cells, and several groups measured urinary and plasma catecholamines to determine general autonomic status. In the late 1980s adrenal medullary tissue was first transplanted to the caudate nucleus in an attempt to augment the decreased levels of dopamine, and thus treat the symptoms of Parkinson's disease. At this time the status of the adrenal medulla in this disease became clinically important. We measured the total catecholamine content of the parkinsonian adrenal medulla in tissue collected both at autopsy and in conjunction with adrenal-caudate transplants. Adrenal medullary catecholamines and several neuropeptides were severely depressed in parkinsonian glands. Thus, the adrenal medulla appears to be a target of the peripheral manifestations of Parkinson's disease.

  15. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    PubMed

    Garcia, M Lourdes; Ty, Edna B; Taban, Mehryar; David Rothner, A; Rogers, Douglas; Traboulsi, Elias I

    2006-11-01

    To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.

  16. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

    PubMed

    Shah, Krupa; Shah, Hitesh

    2016-08-16

    Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

  17. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    PubMed

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  18. Linear enamel hypoplasia in gibbons (Hylobates lar carpenteri).

    PubMed

    Guatelli-Steinberg, D

    2000-07-01

    This study describes the expression of linear enamel hypoplasia (LEH), a sensitive dental indicator of physiological stress, in Thailand gibbons (Hylobates lar carpenteri). Previous studies of enamel hypoplasia in hominoids have focused on great apes, with little attention given to the expression of this stress indicator in gibbons. In that gibbons differ from both monkeys and great apes in numerous life history features, LEH expression in gibbons might be expected to show significant differences from both. In this study, 92 gibbon specimens from two sites in Thailand were compared with several samples of monkeys and great apes in their expression of LEH. The intertooth distribution of LEH in gibbons was compared to that of chimpanzees and rhesus monkeys. Gibbon populations from both sites exhibit LEH frequencies intermediate between those of the monkey samples, in which LEH prevalence is usually low, and those of the great ape samples, in which LEH prevalence is high. Gibbons differ significantly from monkeys, but not great apes, in the number of individuals whose teeth record multiple stress events. Multiple episodes of stress are rarely recorded in the teeth of monkeys, while multiple stress events occur with higher frequency in gibbons and great apes. Taxonomic variation in the duration of crown formation, the prominence and spacing of perikymata on dental crowns, life history features, and/or experience of physiological stress may explain these patterns. The intertooth distribution of LEH in gibbons is, for different reasons, unlike that of either chimpanzees or rhesus monkeys. The mandibular canines of gibbons have significantly more LEH than any of their other teeth. Aspects of crown morphology, perikymata prominence/spacing, enamel thickness, and crown formation spans are potential causes of taxonomic variation in the intertooth distribution of LEH.

  19. Aplasia cutis congenita of the scalp- what are the steps to be followed? Case report and review of the literature*

    PubMed Central

    Brzezinski, Piotr; Pinteala, Tudor; Chiriac, Anca E; Foia, Liliana; Chiriac, Anca

    2015-01-01

    Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, non-indurate and no inflammatory rim; localized on the scalp and a small, atrophic hairless scar appeared 6 months later (approximately 5cm in length) at the site of the previous tumor. PMID:25672305

  20. A Case Report of Bilateral Sarcomatoid Carcinoma of Adrenal Glands With Adrenal Insufficiency.

    PubMed

    Ishikawa, Noriyoshi; Nagase, Mamiko; Takami, Saki; Araki, Asuka; Ishikawa, Nahoko; Koike, Chiaki; Shiina, Hiroaki; Maruyama, Riruke

    2016-12-01

    Adrenocortical carcinomas are relatively rare, but they are considered to be highly aggressive malignant tumors. Sarcomatoid carcinomas represent an even more aggressive type. Bilateral malignant adrenal tumors are extraordinary rare, except for those that represent metastatic spread from a primary neoplasm. Here we report a case of a 69-year-old woman who presented symptoms that raised strong suspicions of adrenal insufficiency. Bilateral adrenal masses, identified in the imaging study, were responsible for the clinical manifestation and surgically resected. Surgical specimens of the bilateral adrenal tumors shared histological features compatible with sarcomatoid carcinoma. It was very difficult to confirm that the sarcomatoid carcinomas were derived from the cortex of the adrenal glands, but careful morphological observation and the panel of antibodies used for immunohistochemistry made the diagnosis possible. This is the first report of sarcomatoid carcinomas involving both adrenal glands. It should be emphasized that sarcomatoid carcinoma can arise bilaterally from even functionally impaired adrenal glands.

  1. Delayed Diagnosis of Graves’ Thyrotoxicoisis Presenting as Recurrent Adrenal Crisis in Primary Adrenal Insufficiency

    PubMed Central

    Naik, Dukhabandhu; Jebasingh, K Felix

    2016-01-01

    Adrenal crisis is a potential life threatening complication. The common causes of adrenal crisis are infections, surgical stress and abrupt cessation of steroid medications. Endocrine causes like Graves’ disease with thyrotoxicosis is one of the less common causes of an adrenal crisis. We report a 42-year-old female who presented with recurrent episodes of adrenal crisis due to delayed diagnosis of thyrotoxicosis. She was initially treated with Carbimazole followed by Radio-iodine ablation and currently she is euthyroid. Her adrenal insufficiency was initially treated with hydrocortisone during the time of adrenal crisis followed by Prednisolone 5 mg once daily in the morning along with fludrocortisone 50 mcg once daily. This case highlights the need for high index of suspicion and less common causes like thyrotoxicosis should be ruled out in patients with adrenal crisis. PMID:27190873

  2. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia

    PubMed Central

    Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2015-01-01

    Background Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). Conclusions CT evaluation of the skull base is essential to establish this diagnosis and distinguish aplasia from agenesis/hypoplasia (by the absence or hypoplasia of the carotid canal) or from acquired ICA obstruction as demonstrated by angiographic CT. PMID:25749818

  3. Unilateral adrenal hemorrhagic infarction in essential thrombocythemia.

    PubMed

    Burnet, G; Lambert, M; Annet, L; Lefebvre, C

    2015-12-01

    Adrenal hemorrhage is a rare disease associated with various conditions. We report a case of a 68-year-old woman with abdominal and back pain. The diagnostic work-up showed a left adrenal gland infarction associated with essential thrombocythemia. Treatment consisted in painkillers and treating the underlying condition in order to prevent further thrombotic events.

  4. Computed tomographic findings in bilateral adrenal tuberculosis

    SciTech Connect

    Wilms, G.E.; Baert, A.L.; Kint, E.J.; Pringot, J.H.; Goddeeris, P.G.

    1983-03-01

    The computed tomographic (CT) features of bilateral adrenal tuberculosis are reported in two cases that demonstrate two typical different clinical and morphological manifestations of the disease. The incidence and CT appearance of adrenal tuberculosis are discussed, with emphasis on differential diagnosis.

  5. Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    PubMed Central

    Gysin, Stefan; Itin, Peter

    2015-01-01

    Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962) suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia) plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH. PMID:26078738

  6. Spondyloepiphseal dysplasia congenita in siblings born to unaffected parents: ? germ line mosaicism

    SciTech Connect

    Mulla, W.; McDonald-McGinn, D.; Zackai, E.

    1994-09-01

    Germ line mosaicism has been used to explain the birth of more than one child affected with a dominantly inherited disorder born to unaffected parents. Furthermore, it has been confirmed clinically in families where recurrence in siblings was originally thought to be autosomal recessive, but were affected individuals have reproduced affected offspring. Firm evidence of germ line mosaicism using mutation analysis by molecular methods exists for some autosomal disorders. We present two siblings with spondyloepipheseal dysplasia congenita (SEDC) born to unaffected parents. This suggests the presence of germ line mosaicism in this entity. Patient 1 was born at 32 weeks gestation to a G1P1 Puerto Rican mother. The pregnancy was complicated by polyhydramnios. The neonate, a short-limbed dwarf, died at 15 hours of age from respiratory distress and a compromised thoracic cavity. Patient 2, the sibling of patient 1 was born at 37 weeks gestation after a pregnancy complicated by polyhydramnios and prenatal ultrasound diagnosis of short-limbed dwarfism. The diagnosis of SEDC was made and, after review of the sibling`s postmortem X-rays, it was felt that she was similarly affected. The family history reveals no history of dwarfism or consanguinity. The SEDC is described as an autosomal dominant form of dwarfism with variable presentation including some cases that have been lethal in the neonatal period. SEDC is now believed to represent a family of collagen II mutations. Sporadic cases that have arisen in families with no history have been ascribed to new heterozygous mutations. Other families in which SEDC and SEMD recurred without a family history most likely represent germ line mosaicism. In these cases molecular studies should be pursued to document a collagen II mutation. We believe that germ line mosaicism is the most plausible explanation for recurrence in our family.

  7. Mutations in the CLCN1 gene leading to myotonia congenita Thomsen and generalized myotonia Becker

    SciTech Connect

    Koch, M.C.; Meyer-Kline, C.; Otto, M.

    1994-09-01

    Autosomal dominant inherited myotonia congenita Thomsen (MC) and autosomal recessive generalized myotonia Becker (GM) are non-dystropic muscle disorders in which the symptom myotonia is based on an increased excitability of the muscle fiber membrane due to a reduced sarcolemmal chloride conductance. Affected individuals exhibit myotonic muscle stiffness in all skeletal muscles and a transient muscle weakness is particularly pronounced in the arms and hands of probands with the disorder GM. Recently we have shown linkage of the disorders MC and GM to the gene CLCN1 coding for the skeletal muscle chloride channel on chromosome 7 in German families. In addition we presented data supporting the hypothesis that GM is a genetically homogeneous disorder. Data are presented about an extended screen for mutations in the CLCN1 gene for our MC and GM population. We identified mainly missense mutations leading to altered amino acid codons. The previously described F413C mutation is by far the most common mutation for GM and is found in one family only (P480L, G482R, R496S). In addition we found 5{prime} donor and 3{prime} acceptor splice site mutations at various intron-exon boundaries, as well as a deletion mutation of 14 bp in exon 13. This deletion mutation is the second most common mutation in the GM population with a frequency of 8%. So far we have not determined sites of predominance of mutations in the CLCN1 gene, which could give us more insight into the regions critical for the function of the channel and the fact that the mutations in the gene may lead to dominant and recessive inheritance.

  8. Abrasion, erosion, and abfraction combined with linear enamel hypoplasia: a case report.

    PubMed

    Boston, D W; al-bargi, H; Bogert, M

    1999-10-01

    Linear enamel hypoplasia is a developmental disturbance of enamel resulting in clinically visible horizontal defects in enamel that are present on eruption of the tooth. Nondevelopmental lesions of the hard tissues of the tooth, including carious, abrasion, erosion, attrition, and abfraction lesions, require varying amounts of time after tooth eruption to develop. Because linear enamel hypoplasia lesions are present on eruption and are exposed to the factors responsible for abrasion, erosion, and abfraction, nondevelopmental lesions could occur within them in any combination. This report describes a patient with multiple teeth with linear enamel hypoplasia lesions containing nondevelopmental defects as well as nondevelopmental defects that occurred separately. Severe pain and a unique lesion morphology were associated with the linear enamel hypoplasia defects. Affected teeth were extracted because of advanced periodontitis and were sectioned to determine the nature of the enamel and dentin lesions.

  9. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases.

    PubMed

    Hsieh, Chang-Sheng; Lee, Sang-Ho; Lee, Hyung Chang; Oh, Hyeong-Seok; Hwang, Byeong-Wook; Park, Sang-Joon; Chen, Jian-Han

    2017-04-01

    Congenital hypoplasia of the spinal pedicle is a rare condition. Previously reported cases were treated conservatively or with posterior instrumented fusion. However, the absence or hypoplasia of the lumbar pedicle may increase the difficulty of pedicle screw fixation and fusion. Herein, the authors describe 2 cases of rare adult congenital hypoplasia of the right lumbar pedicles associated with spondylolisthesis. The patients underwent anterior lumbar interbody fusion with a stand-alone cage as well as percutaneous pedicle screw fixation. This method was used to avoid the difficulties associated with pedicle screw fixation and to attain solid fusion. Both patients achieved satisfactory outcomes after a minimum of 2 years of follow-up. This method may be an alternative for patients with congenital hypoplasia of the lumbar spinal pedicle.

  10. Le Fort II midfacial distraction combined with orthognathic surgery in the treatment of nasomaxillary hypoplasia.

    PubMed

    Yu, Hongbo; Dai, Jiewen; Wang, Xudong; Zhang, Wenbin; Shen, Steve Guofang

    2014-05-01

    Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

  11. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  12. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    PubMed Central

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  13. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    PubMed

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  14. Anatomical vertebral artery hypoplasia and insufficiency impairs dynamic blood flow regulation.

    PubMed

    Sato, Kohei; Yoneya, Marina; Otsuki, Aki; Sadamoto, Tomoko; Ogoh, Shigehiko

    2015-11-01

    Recent studies have suggested that vertebral artery (VA) hypoplasia is a predisposing factor for posterior cerebral stroke. We examined whether anatomical vertebrobasilar ischemia, i.e., unilateral VA hypoplasia and insufficiency, impairs dynamic blood flow regulation. Twenty-eight female subjects were divided into three groups by defined criteria: (i) unilateral VA hypoplasia (n = 8), (ii) VA insufficiency (n = 6), and (iii) control (n = 14). Hypoplastic VA criterion was VA blood flow of 40 ml min(-1) , whereas VA insufficiency criterion was net (left + right) VA blood flow of 100 ml min(-1) or less. We evaluated left, right, and net VA blood flows by ultrasonography during hypercapnia, normocapnia, and hypocapnia to evaluate VA CO2 reactivity. The unilateral VA hypoplasia group showed lower CO2 reactivity at hypoplastic VA than at non-hypoplastic VA (2.65 ± 0.58 versus 3.00 ± 0.48% per mmHg, P = 0.027) and net VA CO2 reactivity was preserved (Unilateral VA hypoplasia, 2.95 ± 0.48 versus Control, 2.93 ± 0.42% per mmHg, P = 0.992). However, the VA insufficiency group showed a lower net VA CO2 reactivity compared to the control (2.29 ± 0.55 versus 2.93 ± 0.42% per mmHg, P = 0.032) and the unilateral VA hypoplasia (P = 0.046). VA hypoplasia reduced CO2 reactivity, although non-hypoplastic VA may compensate this regulatory limitation. In subjects with VA insufficiency, lowered CO2 reactivity at the both VA could not preserve normal net VA CO2 reactivity. These findings provide a possible physiological mechanism for the increased risk of posterior cerebral stroke in subjects with VA hypoplasia and insufficiency.

  15. Sonography of the adrenal glands in the adult.

    PubMed

    Kim, Kyoung Won; Kim, Jeong Kon; Choi, Hyuck Jae; Kim, Mi-hyun; Lee, Jeongjin; Cho, Kyoung-Sik

    2012-01-01

    Although its capability has been overlooked, sonography can be a useful screening tool for adrenal lesion in adults. In this article, we discuss scan technique, patient positioning, and anatomic consideration for adrenal sonography in adults and illustrate sonographic appearance of normal adrenal gland as well as adrenal tumors and tumor-like lesions.

  16. Clinicopathological correlates of adrenal Cushing's syndrome.

    PubMed

    Duan, Kai; Gomez Hernandez, Karen; Mete, Ozgur

    2015-03-01

    Endogenous Cushing's syndrome is a rare endocrine disorder that incurs significant cardiovascular morbidity and mortality, due to glucocorticoid excess. It comprises adrenal (20%) and non-adrenal (80%) aetiologies. While the majority of cases are attributed to pituitary or ectopic corticotropin (ACTH) overproduction, primary cortisol-producing adrenal cortical lesions are increasingly recognised in the pathophysiology of Cushing's syndrome. Our understanding of this disease has progressed substantially over the past decade. Recently, important mechanisms underlying the pathogenesis of adrenal hypercortisolism have been elucidated with the discovery of mutations in cyclic AMP signalling (PRKACA, PRKAR1A, GNAS, PDE11A, PDE8B), armadillo repeat containing 5 gene (ARMC5) a putative tumour suppressor gene, aberrant G-protein-coupled receptors, and intra-adrenal secretion of ACTH. Accurate subtyping of Cushing's syndrome is crucial for treatment decision-making and requires a complete integration of clinical, biochemical, imaging and pathology findings. Pathological correlates in the adrenal glands include hyperplasia, adenoma and carcinoma. While the most common presentation is diffuse adrenocortical hyperplasia secondary to excess ACTH production, this entity is usually treated with pituitary or ectopic tumour resection. Therefore, when confronted with adrenalectomy specimens in the setting of Cushing's syndrome, surgical pathologists are most commonly exposed to adrenocortical adenomas, carcinomas and primary macronodular or micronodular hyperplasia. This review provides an update on the rapidly evolving knowledge of adrenal Cushing's syndrome and discusses the clinicopathological correlations of this important disease.

  17. Corticomedullary mixed tumor of the adrenal gland.

    PubMed

    Wieneke, J A; Thompson, L D; Heffess, C S

    2001-10-01

    Corticomedullary mixed tumors of the adrenal gland are quite rare, with only five well-documented cases reported in the literature.(1-4) Herein, we report the light microscopic and immunohistochemical features of two cases of this rare tumor. Patient 1 is a 34-year-old woman who presented with hypertension, hair loss, and amenorrhea of 1-year duration. Patient 2 is a 52-year-old woman who presented with flank pain and what appeared to be a renal mass on arteriogram with no history of hypertension, Cushing's syndrome, or other endocrine abnormalities. At surgery, the tumor was noted to arise from the adrenal gland rather than the kidney and adrenalectomy was performed. In both cases, the surgically resected specimens consisted of a well-circumscribed, single adrenal mass surrounded by a rim of uninvolved adrenal cortical tissue. The tumors were composed of adrenal cortical cells intimately admixed with pheochromocytes. Immunohistochemical studies highlighted these two cellular components. The pheochromocytes were strongly reactive with chromogranin and the sustentacular cells with S-100 protein, whereas the adrenal cortical cells reacted specifically with inhibin. Thus, we report two additional cases of mixed corticomedullary tumor of the adrenal gland. Ann Diagn Pathol 5:304-308, 2001. This is a US government work. There are no restrictions on its use.

  18. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia].

    PubMed

    Moser, U; Singer, G; Schmidt, B; Spendel, S

    2016-08-01

    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

  19. Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita

    PubMed Central

    Lipicky, R. J.; Bryant, S. H.; Salmon, J. H.

    1971-01-01

    In isolated fiber bundles of external intercostal muscle from each of 13 normal volunteers and each of 6 patients with myotonia congenita, some or all of the following were measured: concentrations of Na+, K+, and Cl-, extracellular volume, water content, K+ efflux, fiber size, fiber cable parameters, and fiber resting potentials. Muscle from patients with myotonia congenita differed significantly (0.001 congenita vs. normal): the membrane resistance was greater (5729 vs. 2619 ω·cm2), the internal resistivity was less (75.0 vs. 123.2 ω·cm), the water content was less (788.2 vs. 808.2 ml/kg wet weight), and the mean resting potential was greater (68 vs. 61 mv). No significant differences were found with respect to the following variables: K+ content (73.5 vs. 66.7 mEq/kg wet weight) and the calculated intracellular K+ concentration (215 vs. 191 mEq/liter fiber water), fiber capacitance (5.90 vs. 5.15 μf/cm2), Na+ content (97.7 vs. 94.1 mEq/kg wet weight), Cl- content (79.0 vs. 74.7 mEq/kg wet weight), mannitol extracellular volume (45.1 vs. 46.6 cc/100 g wet weight), and K+ efflux (23.2 vs. 21.5 moles × 10-12 cm-2·sec-1). These abnormalities of skeletal muscle in human myotonia congenita are like those of skeletal muscle in goats with hereditary myotonia. We tentatively conclude that a decreased Cl- permeability accounts for some of the abnormal electrical properties of skeletal muscle in myotonia congenita. PMID:4940295

  20. Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis.

    PubMed

    Colucci, Randall; Jimenez, Rafael E; Farrar, William; Malgor, Ramiro; Kohn, Leonard; Schwartz, Frank L

    2012-06-01

    A 56-year-old woman presented with an incidental adrenal adenoma and physical examination findings that included moderate obesity, a slight cervicothoracic fat pad ("buffalo hump"), increased supraclavicular fat pads, and white abdominal striae. Biochemical workup revealed elevated levels of 24-hour urinary free cortisol but normal serum morning cortisol and suppressed levels of corticotropin, suggestive of adrenal-dependent Cushing syndrome. The resected adrenal gland revealed macronodular cortical hyperplasia with a dominant nodule. Other findings included an absent cortisol response to corticotropin stimulation, presence of serum anti-21-hydroxylase antibodies, and mononuclear cell infiltration--consistent with adrenalitis. The findings represent, to the authors' knowledge, the first known case of a patient with coexistent functional cortisol-secreting macronodular adrenal tumor resulting in Cushing syndrome and immune-mediated adrenalitis resulting in Addison disease.

  1. Severe hyponatremia caused by hypothalamic adrenal insufficiency.

    PubMed

    Shibata, T; Oeda, T; Saito, Y

    1999-05-01

    A 60-year-old woman was admitted with severe hyponatremia. Basal values of adrenocorticotropic hormone (ACTH), thyroid hormone and cortisol were normal on admission. Impairment of water diuresis was observed by water loading test. Initially, we diagnosed her condition as the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). By provocation test, we finally confirmed that the hyponatremia was caused by hypothalamic adrenal insufficiency. The basal values of ACTH and cortisol might not be sufficient to exclude the possibility of adrenal insufficiency. Therefore, it is necessary to evaluate adrenal function by provocation test or to re-evaluate it after recovery from hyponatremia.

  2. Spontaneous Unilateral Adrenal Hemorrhage in Pregnancy

    PubMed Central

    Ebrahem, Rawaa; Munguti, Cyrus; Mortada, Rami

    2017-01-01

    Spontaneous adrenal hemorrhage (SAH) is a serious medical condition associated with variable clinical presentation depending on the extent of the hemorrhage. Pregnancy-induced adrenal hemorrhage is poorly understood. A low cortisol level in the peripartum period with radiological findings is sufficient to establish the diagnosis. Prompt hormone replacement and supportive care to ensure good clinical outcomes is crucial. Due to the potentially life-threatening complications, physicians should have a high suspicion for adrenal hemorrhage when they evaluate patients with hypotension, fatigue, and abdominal pain during the peripartum period. PMID:28191381

  3. Presence of kisspeptin-like immunoreactivity in human adrenal glands and adrenal tumors.

    PubMed

    Takahashi, Kazuhiro; Shoji, Itaru; Shibasaki, Akiko; Kato, Ichiro; Hiraishi, Keisuke; Yamamoto, Hajime; Kaneko, Kiriko; Murakami, Osamu; Morimoto, Ryo; Satoh, Fumitoshi; Ito, Sadayoshi; Totsune, Kazuhito

    2010-05-01

    Kisspeptins are neuropeptides which activate the hypothalamo-pituitary gonadal axis and are considered to play important physiological roles in the reproduction. Kisspeptins have also been reported to stimulate the aldosterone secretion from the adrenal cortex. However, the expression of kisspeptins in human adrenal glands and adrenal tumors has not been clarified yet. We, therefore, studied the presence of kisspeptin-like immunoreactivity (LI) in human adrenal glands and adrenal tumors (adrenocortical adenomas, adrenocortical carcinomas, and pheochromocytomas) by radioimmunoassay and immunocytochemistry. Kisspeptin-LI was detected in all the tissues examined; normal portions of adrenal glands (3.0 +/- 2.3 pmol/g wet weight, n = 21, mean +/- SD), aldosterone-producing adenomas (4.6 +/- 3.3 pmol/g wet weight, n = 10), cortisol-producing adenomas (2.7 +/- 1.4 pmol/g wet weight, n = 14), adrenocortical carcinomas (1.7 +/- 0.2 pmol/g wet weight, n = 4), and pheochromocytomas (1.8 +/- 0.8 pmol/g wet weight, n = 6). There was no significant difference in kisspeptin-LI levels among them. Immunocytochemistry showed positive kisspeptin-immunostaining in normal adrenal glands, with stronger immunostaining found in the medulla. Furthermore, positive kisspeptin-immunostaining was found in all types of adrenal tumors examined; adrenocortical adenomas, adrenocortical carcinomas, and pheochromocytomas. The intensity of kisspeptin-immunostaining in these adrenal tumors was, however, not so strong as that in normal adrenal medulla. The present study has shown for the first time the presence of kisspeptin-LI in adrenal glands and adrenal tumors.

  4. Non-Hodgkin's lymphoma involving a femur bone and bilateral adrenal glands alone with adrenal insufficiency.

    PubMed

    Iwahara, Yoshihito; Shinohara, Tsutomu; Naruse, Keishi; Komatsu, Yukihisa

    2017-01-31

    Primary bone lymphoma and primary adrenal lymphoma are rare clinicopathological entities of non-Hodgkin's lymphoma (NHL). We present the first case of diffuse large B-cell lymphoma with the involvement of a single bone and both adrenal glands alone with adrenal insufficiency. As primary extranodal NHL may have other unusual extranodal lesions, which may present unexplained clinical findings, patients with primary extranodal NHL require careful systemic examination, even when lymphadenopathy is absent.

  5. A case of adrenal Cushing’s syndrome with bilateral adrenal masses

    PubMed Central

    Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei

    2016-01-01

    Summary A functional lesion in corticotrophin (ACTH)-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses. Learning points The clinical presentation of Cushing’ syndrome includes symptoms and signs of fat redistribution and protein-wasting features. The diagnosis of patients with ACTH-independent Cushing’s syndrome with bilateral adrenal masses is challenging for localisation of the lesion. Both adrenal venous sampling and 131I-NP-59 scintigraphy are good methods to use in these patients with Cushing’s syndrome presenting with bilateral adrenal masses. PMID:27252858

  6. Radiology of the adrenals with sonography and CT

    SciTech Connect

    Mitty, H.A.; Yeh, H.C.

    1982-01-01

    The basic science and application of clinical adrenal imaging is presented. The initial chapters deal with anatomic review and methods of adrenal imaging. The bulk of the book consists of individual chapters describing pathologic entities and syndromes of adrenal disease. The final chapter deals with differentiation of adrenal lesions from masses arising in adjacent organs. There is no other single source available which so concisely presents adrenal imaging. (KRM)

  7. [Neonatal adrenal hemorrhage revealed by jaundice: a case report].

    PubMed

    Oulmaati, A; Hays, S; Mory-Thomas, N; Bretones, P; Bensaid, M; Jordan, I; Bonfils, M; Godbert, I; Picaud, J-C

    2012-04-01

    The clinical presentation of adrenal hemorrhage varies, depending on the extent of hemorrhage as well as the amount of adrenal cortex involved by the hemorrhage. We report here a case of neonatal adrenal hemorrhage revealed by late onset of neonatal jaundice. This adrenal hemorrhage most probably resulted from shoulder dystocia. The aim of this work was to focus on the fact that jaundice can be caused by adrenal hemorrhage and to emphasize the crucial importance of abdominal ultrasound in cases of persistent jaundice.

  8. Renal Function and Hematology in Rats with Congenital Renal Hypoplasia.

    PubMed

    Yasuda, Hidenori; Amakasu, Kohei; Tochigi, Yuki; Katayama, Kentaro; Suzuki, Hiroetsu

    2016-02-01

    Renal hypoplasia due to a congenitally reduced number of nephrons progresses to chronic kidney disease and may cause renal anemia, given that the kidneys are a major source of erythropoietin in adults. Hypoplastic kidney (HPK) rats have only about 20% of the normal number of nephrons and develop CKD. This study assessed the renal function and hematologic changes in HPK rats from 70 to 210 d of age. HPK rats demonstrated deterioration of renal excretory function, slightly macrocytic erythropenia at all days examined, age-related increases in splenic hemosiderosis accompanied by a tendency toward increased hemolysis, normal plasma erythropoietin levels associated with increased hepatic and decreased renal erythropoietin production, and maintenance of the response for erythropoietin production to hypoxic conditions, with increased interstitial fibrosis at 140 d of age. These results indicate that increases in splenic hemosiderosis and the membrane fragility of RBC might be associated with erythropenia and that hepatic production of erythropoietin might contribute to maintaining the blood Hgb concentration in HPK rats.

  9. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

    PubMed

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen

    2015-12-01

    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  10. Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia

    PubMed Central

    Katagiri, Satoshi; Nishina, Sachiko; Yokoi, Tadashi; Mikami, Masashi; Nakayama, Yuri; Tanaka, Michiko; Azuma, Noriyuki

    2017-01-01

    We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT analysis of the macular region showed significant ganglion cells complex (GCC) thinning nasally and temporally (P < 0.05), but the thickness from the inner nuclear layer (INL) to the retinal pigment epithelium (RPE) became thinner only nasally (P < 0.05). SD-OCT analysis of the circumpapillary region showed significant thinning in the retinal nerve fiber layer and from the INL to the RPE (P < 0.05). The horizontal SD-OCT images showed variable foveal abnormalities. FF-ERG analysis showed significantly reduced amplitudes (P < 0.05) and preserved implicit time in the photopic negative response. The amplitudes and implicit times of the other FF-ERG components did not differ significantly. FM-ERG analysis showed significantly reduced amplitudes (P < 0.05) but preserved implicit times in all components. The current study showed the change of retinal structure and function in eyes with ONH compared with those with control, representing by decreased retinal ganglion cells (RGCs) and their axons, foveal abnormalities, and preserved peripheral retina except for the RGCs and their axons. PMID:28205530

  11. Anesthetic and Dental Management of a Child With IMAGe Syndrome

    PubMed Central

    Lindemeyer, Rochelle G.; Rashewsky, Stephanie E.; Louie, Phillip J.; Schleelein, Laura

    2014-01-01

    IMAGe syndrome (OMIM 300290) is a rare multisystem disorder that has a broad phenotypic presentation. Though variable, this disorder mainly consists of Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities. Patients with IMAGe syndrome present as an uncommon yet important challenge for dentists and anesthesiologists due to their wide range of dysmorphic facial features, adrenal insufficiency, electrolyte imbalances, and need for steroid replacement. The purpose of this case report is to describe the successful anesthetic management of a pediatric patient diagnosed with IMAGe syndrome who presented for full mouth dental rehabilitation. PMID:25517553

  12. Genetics Home Reference: primary macronodular adrenal hyperplasia

    MedlinePlus

    ... produced from the GNAS gene helps stimulate the activity of an enzyme called adenylate cyclase. This enzyme is involved in controlling the production of several hormones that help regulate the activity of certain endocrine glands, including the adrenal glands. ...

  13. Advanced glycosylation end products in adrenal lipofuscin.

    PubMed

    Shimokawa, I; Higami, Y; Horiuchi, S; Iwasaki, M; Ikeda, T

    1998-01-01

    The present study examined the presence of advanced glycosylation end products (AGEs) in lipofuscin present in the brain and adrenal gland of aging rats by immunohistochemistry using antibodies raised against AGEs. Lipofuscin identified as yellow to brown granules emitting bright yellow to orange autofluorescence with ultraviolet light were detected in cortical neurons, cerebellar Purkinje cells, and adrenal cells in the inner part of the zona reticularis. However, none of the antibodies visualized lipofuscin in these areas. The outer part of the zona reticularis contained yellow granules emitting a faint orange autofluorescence. These granules were immunostained by an antibody that reacted with AGEs structures unrelated to the carboxymethyllysine moiety. Newly formed adrenal cortical cells are thought to migrate from the outer layer to the inner layer of the zona reticularis. Therefore, our results suggest that glycosylation-related processes are involved in lipofuscinogenesis, at least in its early stage, in the adrenal zona reticularis.

  14. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  15. Image-guided ablation of adrenal lesions.

    PubMed

    Yamakado, Koichiro

    2014-06-01

    Although laparoscopic adrenalectomy has remained the standard of care for the treatment for adrenal tumors, percutaneous image-guided ablation therapy, such as chemical ablation, radiofrequency ablation, cryoablation, and microwave ablation, has been shown to be clinically useful in many nonsurgical candidates. Ablation therapy has been used to treat both functioning adenomas and malignant tumors, including primary adrenal carcinoma and metastasis. For patients with functioning adenomas, biochemical and symptomatic improvement is achieved in 96 to 100% after ablation; for patients with malignant adrenal neoplasms, however, the survival benefit from ablation therapy remains unclear, though good initial results have been reported. This article outlines the current role of ablation therapy for adrenal lesions, as well as identifying some of the technical considerations for this procedure.

  16. Primary hydatid cyst in the adrenal gland.

    PubMed

    Mohammadi, Afshin; Ghasemi-Rad, Mohammad; Oklu, Rahmi

    2014-10-23

    An elderly man presented with a 2-year history of refractory hypertension. His medical history, physical examination and laboratory findings were unremarkable. On subsequent ultrasound study for the evaluation of renal artery stenosis, a large mass obliterating the adrenal gland containing internal cystic structures was identified. A CT study confirmed the diagnosis of primary adrenal gland hydatid cyst. Following surgical resection, the patient's hypertension resolved and medications to control blood pressure were discontinued.

  17. Metabolism of adrenal cholesterol in man

    PubMed Central

    Borkowski, Abraham; Delcroix, Claude; Levin, Sam

    1972-01-01

    The synthesis of adrenal cholesterol, its esterification and the synthesis of the glucocorticosteroid hormones were studied in vitro on human adrenal tissue. It was found that the synthesis of adrenal cholesterol may normally be small in the zona “fasciculata,” particularly when compared with the synthesis of the glucocorticosteroid hormones, that it is several times higher in the zona “reticularis” where esterified cholesterol is less abundant, and that under ACTH stimulation it increases strikingly and proportionally to the degree of esterified adrenal cholesterol depletion. On the other hand, the relative rate of esterification as well as the concentration of free adrenal cholesterol are remarkably stable: they do not differ according to the adrenal zonation and are unaffected by ACTH. Furthermore, from a qualitative point of view, the relative proportions of Δ1 and Δ2 cholesteryl esters formed in situ are similar to those anticipated from their relative concentrations, suggesting that the characteristic fatty acid distribution of the adrenal cholesteryl esters results from an in situ esterification rather than from a selective uptake of the plasma cholesteryl esters. Besides, the in vitro esterification reveals a propensity to the formation of the most unsaturated cholesteryl esters. Regarding hydrocortisone and corticosterone, their synthesis tends to be more elevated in the zona “fasciculata.” Despite its higher cholesterol concentration the zona “fasciculata” should not therefore be viewed as a quiescent functional complement to the zona “reticularis” and the cortical distribution of glucocorticosteroid hormone synthesis is quite distinct from that of adrenal cholesterol synthesis. PMID:4338120

  18. Black adrenal adenoma causing preclinical Cushing's syndrome.

    PubMed

    Inomoto, Chie; Sato, Haruhiro; Kanai, Genta; Hirukawa, Takashi; Shoji, Sunao; Terachi, Toshiro; Kajiwara, Hiroshi; Osamura, Robert Yoshiyuki

    2010-07-20

    Functioning black adrenal adenoma (BAA) rarely causes preclinical Cushing's syndrome (CS). In the present case, a 46-year-old Japanese Peruvian woman presented with left flank pain and hypertension. Abdominal computed tomography showed that she had a 15-mm in diameter, round, left adrenal adenoma. She had no physical features of CS, such as moon face, buffalo hump, truncal obesity, or purple striae. Endocrinological examination showed that the plasma adrenocorticotropic hormone (ACTH) level was below the detectable level, despite a serum cortisol level within the normal range. A normal cortisol circadian rhythm was not present. Dexamethasone (1 mg and 8 mg) suppression testing did not decrease serum cortisol levels to the reference levels. These findings were compatible with preclinical CS. The left adrenal adenoma was laparoscopically removed. Examination of the surgical specimen revealed unilateral double adrenal adenomas of the left adrenal gland, one of which was a BAA. The BAA measured 20 × 11 × 10 mm. Microscopically, the BAA showed proliferation of compact cells containing numerous brown-pigmented granules. There were also foci of myelolipomatous degenerative changes in the tumor. The compact cell zones remained in the adrenal cortex adjacent to the BAA showed atrophic change. These findings indicated that BAA appeared to have caused preclinical CS in this patient.

  19. Outcome of congenital adrenal hyperplasia.

    PubMed

    Kuhnle, U; Bullinger, M

    1997-09-01

    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2. 31 +/- 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that

  20. Adrenal Imaging: Magnetic Resonance Imaging and Computed Tomography.

    PubMed

    McCarthy, Colin J; McDermott, Shaunagh; Blake, Michael A

    2016-01-01

    The adrenal glands are located superior to the kidneys and play an important role in the endocrine system. Each adrenal gland contains an outer cortex, responsible mainly for the secretion of androgens and corticosteroids, and an inner medulla, which secretes epinephrine and norepinephrine. Here, we review the anatomy of the adrenal glands and explain the current imaging modalities that are most useful for the assessment of the various conditions--both benign and malignant--that can affect these glands. As adrenal lesions are often identified incidentally on cross-sectional imaging performed for other reasons, the management of such adrenal 'incidentalomas' is also discussed. In many cases, adrenal lesions have distinctive imaging features that allow for a full characterization with noninvasive techniques. In some cases, invasive studies such as adrenal vein sampling or adrenal biopsy become necessary. This review should give the reader a wide overview of how various imaging techniques can be useful in the assessment of adrenal pathology.

  1. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

    PubMed

    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  2. The agonistic adrenal: melatonin elicits female aggression via regulation of adrenal androgens

    PubMed Central

    Rudolph, Lauren M.; Sengelaub, Dale R.; Demas, Gregory E.

    2015-01-01

    Classic findings have demonstrated an important role for sex steroids as regulators of aggression, but this relationship is lacking within some environmental contexts. In mammals and birds, the adrenal androgen dehydroepiandrosterone (DHEA), a non-gonadal precursor of biologically active steroids, has been linked to aggression. Although females, like males, use aggression when competing for limited resources, the mechanisms underlying female aggression remain understudied. Here, we propose a previously undescribed endocrine mechanism regulating female aggression via direct action of the pineal hormone melatonin on adrenal androgens. We examined this in a solitary hamster species, Phodopus sungorus, in which both sexes are highly territorial across the seasons, and display increased aggression concomitant with decreased serum levels of sex steroids in short ‘winter-like' days. Short- but not long-day females had increased adrenal DHEA responsiveness co-occurring with morphological changes in the adrenal gland. Further, serum DHEA and total adrenal DHEA content were elevated in short days. Lastly, melatonin increased DHEA and aggression and stimulated DHEA release from cultured adrenals. Collectively, these findings demonstrate that DHEA is a key peripheral regulator of aggression and that melatonin coordinates a ‘seasonal switch’ from gonadal to adrenal regulation of aggression by direct action on the adrenal glands. PMID:26582025

  3. Failure to visualize adrenal glands in a patient with bilateral adrenal hyperplasia. [/sup 131/I

    SciTech Connect

    Gordon, L.; Mayfield, R.K.; Levine, J.H.; Lopes-Virella, M.F.; Sagel, J.; Buse, M.G.

    1980-01-01

    A patient with clinical and biochemical evidence of Cushing's disease and severe hyperlipidemia underwent an adrenal imaging procedure with NP-59 (6..beta..-(/sup 131/I)iodomethyl-19-norcholesterol), without visualization of either gland. Correction of the hyperlipidemia followed by repeated adrenal imaging resulted in bilateral visualization. A pituitary tumor was removed at surgery, confirming the diagnosis of Cushing's disease.

  4. The agonistic adrenal: melatonin elicits female aggression via regulation of adrenal androgens.

    PubMed

    Rendon, Nikki M; Rudolph, Lauren M; Sengelaub, Dale R; Demas, Gregory E

    2015-11-22

    Classic findings have demonstrated an important role for sex steroids as regulators of aggression, but this relationship is lacking within some environmental contexts. In mammals and birds, the adrenal androgen dehydroepiandrosterone (DHEA), a non-gonadal precursor of biologically active steroids, has been linked to aggression. Although females, like males, use aggression when competing for limited resources, the mechanisms underlying female aggression remain understudied. Here, we propose a previously undescribed endocrine mechanism regulating female aggression via direct action of the pineal hormone melatonin on adrenal androgens. We examined this in a solitary hamster species, Phodopus sungorus, in which both sexes are highly territorial across the seasons, and display increased aggression concomitant with decreased serum levels of sex steroids in short 'winter-like' days. Short- but not long-day females had increased adrenal DHEA responsiveness co-occurring with morphological changes in the adrenal gland. Further, serum DHEA and total adrenal DHEA content were elevated in short days. Lastly, melatonin increased DHEA and aggression and stimulated DHEA release from cultured adrenals. Collectively, these findings demonstrate that DHEA is a key peripheral regulator of aggression and that melatonin coordinates a 'seasonal switch' from gonadal to adrenal regulation of aggression by direct action on the adrenal glands.

  5. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

    PubMed Central

    Huang, Xiangjun; Deng, Xiong; Xu, Hongbo; Wu, Song; Yuan, Lamei; Yang, Zhijian; Yang, Yan; Deng, Hao

    2015-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC. PMID:26030151

  6. [Adrenal insufficiency in cirrhotic patients].

    PubMed

    Orozco, Federico; Anders, María; Mella, José; Antinucci, Florencia; Pagano, Patricia; Esteban, Paula; Cartier, Mariano; Romero, Gustavo; Francini, Bettina; Mastai, Ricardo

    Relative adrenal insufficiency (RAI) is a common finding in cirrhotic patients with severe sepsis, and increased mortality. Its significance is unknown in stable conditions. The aim of this study was to evaluate the prevalence of RAI in stable cirrhotic patients at different stages of the disease. Also, the impact of RAI on the survival was evaluated and basal cortisol levels between plasma and saliva was correlated in control subjects and cirrhotic patients. Forty seven ambulatory patients and 16 control subjects were studied. RAI was defined as a serum cortisol increase of less than 9 υg/dl from baseline after the stimulation with 250 mg of synthetic ACTH. Twenty two had Child-Pugh = 8 and 25 = 9. The prevalence of RAI in patients with stable cirrhosis was 22%. A higher incidence of RAI was observed in patients with a Child-Pugh = 9 (8/32) than in those with = 8 (3/13, p < 0.05). A correlation between salivary cortisol and basal plasma cortisol (r = 0.6, p < 0.0004) was observed. Finally, survival at 1 year (97%) and 3 years (91%) was significantly higher without RAI than those who developed this complication (79% and 51%, p < 0.05, respectively). In summary, the prevalence of RAI is frequent in patients with stable cirrhosis and that it is related to the severity of liver diseaseand increased mortality.

  7. A Case Report of Bilateral Adrenal Sarcomatoid Carcinoma

    PubMed Central

    Cerit, Ethem Turgay; Özkan, Çiğdem; Altınova, Eroğlu; Çimen, Ali Rıza; Sözen, Sinan; Kerem, Mustafa; Aktürk, Müjde; Memiş, Leyla; Törüner, Baloş; Çakır, Nuri; Arslan, Metin

    2016-01-01

    Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy. Sarcomatoid adrenal carcinoma is even more aggressive type of ACC. Bilateral malignant adrenal tumors are extremely rare except for those that represent metastasis from an extra-adrenal organ. Here we report a 53-year-old woman who presented with abdominal pain and weight loss. Abdominal computed tomography revealed bilateral adrenal masses and a mass in her liver. Surgical specimens showed pleomorphic tumor cells with epithelial and spindle cell morphology and immunohistochemical staining was compatible with sarcomatoid carcinoma. Sarcomatoid adrenal carcinoma should be kept in mind during the management of bilateral adrenal masses. PMID:28097033

  8. Adrenal diseases during pregnancy: pathophysiology, diagnosis and management strategies.

    PubMed

    Kamoun, Mahdi; Mnif, Mouna F; Charfi, Nadia; Kacem, Faten H; Naceur, Basma B; Mnif, Fatma; Dammak, Mohamed; Rekik, Nabila; Abid, Mohamed

    2014-01-01

    : Adrenal diseases--including disorders such as Cushing's syndrome, Addison's disease, pheochromocytoma, primary hyperaldosteronism and congenital adrenal hyperplasia--are relatively rare in pregnancy, but a timely diagnosis and proper treatment are critical because these disorders can cause maternal and fetal morbidity and mortality. Making the diagnosis of adrenal disorders in pregnancy is challenging as symptoms associated with pregnancy are also seen in adrenal diseases. In addition, pregnancy is marked by several endocrine changes, including activation of the renin-angiotensin-aldosterone system and the hypothalamic-pituitary-adrenal axis. The aim of this article was to review the pathophysiology, clinical manifestation, diagnosis and management of various adrenal disorders during pregnancy.

  9. Diagnosis of adrenal tumors with radionuclide imaging

    SciTech Connect

    Beierwaltes, W.H.; Sisson, J.C.; Shapiro, B.

    1984-01-01

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, /sup 131/I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with /sup 131/I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search.

  10. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    MedlinePlus

    ... collectively called congenital adrenal hyperplasia) that affect the adrenal glands . The adrenal glands are located on top of the kidneys and ... CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. ...

  11. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    PubMed Central

    Thavarajah, Harshithaa

    2017-01-01

    Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder. PMID:28251002

  12. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    PubMed Central

    Halwai, Hemant Kumar

    2017-01-01

    Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. PMID:28377826

  13. Advances in the Treatment of Syndromic Midface Hypoplasia Using Monobloc and Facial Bipartition Distraction Osteogenesis

    PubMed Central

    Kumar, Anand R.; Steinbacher, Derek

    2014-01-01

    Midface hypoplasia or retrusion remains a persistent feature of syndromic craniosynostosis years after successful treatment of the cranium. Although expansion of the cranial vault in infancy by traditional fronto-orbital advancement, posterior expansion, or both, can treat the immediate intracranial constriction, midface hypoplasia and its stigmata of exorbitism, sleep apnea, central face concavity, and malocclusion remain suboptimally treated. Initial enthusiasm for the procedures was tempered due to a high rate of infectious complications; timing and indications for surgery continue to stir controversy. During the last decade renewed interest with the monobloc and facial bipartition procedure using distraction osteogenesis with either an internal or external distraction system has decreased morbidity significantly. These procedures have re-emerged as powerful and comprehensive tools in the treatment of syndromic midface hypoplasia. PMID:26417208

  14. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    PubMed

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo

    2017-01-01

    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.

  15. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination.

    PubMed

    Zhao, Yonghui; Zhang, Jiaying; Zhang, Jing

    2015-09-01

    Isolated left ventricular (LV) apical hypoplasia is a unusual and recently recognized congenital cardiac anomaly. A 19-year-old man was found to have an abnormal ECG and cardiac murmur identified during a routine health check since joining work. His ECG revealed normal sinus rhythm, right-axis deviation, poor R wave progression, and T wave abnormalities. On physical examination, a 2/6~3/6 systolic murmur was heard at the second intercostal space along the left sternal border. Subsequent echocardiography and cardiac magnetic resonance imaging confirmed the LV apical hypoplasia. Of note, we first found that LV apical hypoplasia was accompanied by RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole. A close follow-up was performed for the development of heart failure, pulmonary hypertension, and potentially tachyarrhythmia.

  16. Enamel hypoplasia and its role in identification of individuals: A review of literature

    PubMed Central

    Kanchan, Tanuj; Machado, Meghna; Rao, Ashwin; Krishan, Kewal; Garg, Arun K.

    2015-01-01

    Identification of individuals is the mainstay of any forensic investigation especially in cases of mass disasters when mutilated remains are brought for examination. Dental examination helps in establishing the identity of an individual and thus, has played a vital role in forensic investigation process since long. In this regard, description on the role of enamel hypoplasia is limited in the literature. The present article reviews the literature on the enamel hypoplasia and discusses its utility in forensic identification. Enamel hypoplasia is a surface defect of the tooth crown caused by disturbance of enamel matrix secretion. Enamel defects can be congenital or acquired. In cases of mass disasters, or when the body is completely charred, putrefied and mutilated beyond recognition, the unique dental features can help in identification of the victims. PMID:26097340

  17. Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia

    PubMed Central

    Kim, Woo Jin; Kim, Jong Ha; Cho, Nam Chun

    2017-01-01

    Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6) gene was identified in most cases of aniridia, with iatrogenic mutations accounting for about two-third of the cases and chromosomal rearrangements accounting for the other one-third. We report rare cases of variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now. PMID:28300742

  18. Adrenal toxicology: a strategy for assessment of functional toxicity to the adrenal cortex and steroidogenesis.

    PubMed

    Harvey, Philip W; Everett, David J; Springall, Christopher J

    2007-01-01

    The adrenal is the most common toxicological target organ in the endocrine system in vivo and yet it is neglected in regulatory endocrine disruption screening and testing. There has been a recent marked increase in interest in adrenal toxicity, but there are no standardised approaches for assessment. Consequently, a strategy is proposed to evaluate adrenocortical toxicity. Human adrenal conditions are reviewed and adrenocortical suppression, known to have been iatrogenically induced leading to Addisonian crisis and death, is identified as the toxicological hazard of most concern. The consequences of inhibition of key steroidogenic enzymes and the possible toxicological modulation of other adrenal conditions are also highlighted. The proposed strategy involves an in vivo rodent adrenal competency test based on ACTH challenge to specifically examine adrenocortical suppression. The H295R human adrenocortical carcinoma cell line is also proposed to identify molecular targets, and is useful for measuring steroids, enzymes or gene expression. Hypothalamo-pituitary-adrenal endocrinology relevant to rodent and human toxicology is reviewed (with an emphasis on multi-endocrine axis effects on the adrenal and also how the adrenal affects a variety of other hormones) and the endocrinology of the H295R cell line is also described. Chemicals known to induce adrenocortical toxicity are reviewed and over 60 examples of compounds and their confirmed steroidogenic targets are presented, with much of this work published very recently using H295R cell systems. In proposing a strategy for adrenocortical toxicity assessment, the outlined techniques will provide hazard assessment data but it will be regulatory agencies that must consider the significance of such data in risk extrapolation models. The cases of etomindate and aminoglutethimide induced adrenal suppression are clearly documented examples of iatrogenic adrenal toxicity in humans. Environmentally, sentinel species, such as

  19. Role of adrenal imaging in surgical management

    SciTech Connect

    Lamki, L.M.; Haynie, T.P. )

    1990-03-01

    Adrenal imaging using radiopharmaceuticals is a functional test that can contribute significantly to surgical management and follow-up of patients with either benign or malignant conditions of the adrenal cortex and medulla. Imaging of the cortex is achieved by iodine-131-labeled iodomethyl nor-cholesterol (NP-59), while adrenal medulla imaging can be successfully accomplished by 131I-metaiodobenzylguanidine (MIBG), which localizes in the adrenergic nerve terminal with norepinephrine. Both tests carry high sensitivity and specificity for functional tumors and hyperplasia, and often better than CT scanning. This article reviews the current status and clinical utility of nuclear imaging of the adrenal cortex in congenital hyperplasia, low renin hypertension and aldosteronism, and Cushing's syndrome. Adrenal medulla imaging is reviewed in light of our experience at the University of Texas M.D. Anderson Cancer Center in pheochromocytoma, neuroblastoma, and other neuroectodermal tumors. Investigation of {sup 131}I-MIBG therapy of metastatic tumors of neuroectodermal origin potentially offers a means of at least controlling symptoms of hormonal secretion in these patients. 40 references.

  20. Thymus and adrenal glands in elder abuse.

    PubMed

    Hayashi, Takahito; Bunai, Yasuo; Ago, Kazutoshi; Ago, Mihoko; Ogata, Mamoru

    2011-12-01

    Endogenous glucocorticoid-induced thymic involution is generally considered to be an important finding for determining child abuse. The present study investigated the weight of the thymus and the adrenal glands in elder abuse cases to identify a potential marker for elder abuse. There was no significant difference in the thymus and the adrenal weight between elder abuse and control cases. However, the elder abuse cases in which the duration of abuse was less than 3 months showed a significant increase in the adrenal weight in comparison to control cases. In such cases, histopathological findings showed a loss of intracellular light granules from the zona fasciculata, which might indicate a loss of cholesterol due to the overproduction of glucocorticoid. These results might imply that the elderly, who were maltreated for less than 3 months, were in the early phase of a long-term stress state during which stress-induced overproduction of glucocorticoid was observed in adrenal glands as indicated by Selye. Our results suggest that an increase in adrenal weight may be a potential marker for elder abuse of relatively short periods, especially less than a few months.

  1. Localised enamel hypoplasia of human deciduous canines: genotype or environment?

    PubMed

    Taji, S; Hughes, T; Rogers, J; Townsend, G

    2000-06-01

    A discrete area of defective enamel formation that appears on the labial surface of the crowns of deciduous canine teeth has been described in both recent and prehistoric human populations, with reported frequencies varying from 1 to 45 per cent. Suggestions about the aetiology of this localized hypoplasia range from genotypic factors to environmental conditions and systemic effects. The major aims of this study were to describe the frequency of occurrence and pattern of expression of the lesion in Australian Aboriginal and Caucasian ethnic groups, and to clarify the role of genetic factors by examining a sample of twins. The study sample consisted of dental casts of 181 pairs of Australian Caucasian twins, 215 Aborigines and 122 Caucasian singletons, together with 253 extracted deciduous canines. Examination of dental casts and extracted teeth was undertaken under 2x magnification with emphasis being placed upon location and expression of the lesion. The defect was observed in 49 per cent of twins and 44 per cent of Aborigines, but only 36 per cent of singletons. The percentages of affected teeth in each group were: 18 per cent in twins, 17 per cent in Aborigines and 13 per cent in Caucasians. A significant proportion of the defects occurred on the mesial aspect of the labial surface, in the middle area incisocervically, with the majority in the lower jaw. A number of significant differences in frequency were observed between groups, sexes, arches and sides. The results confirm some of the findings of previous studies, but also suggest that none of environmental, genetic or systemic factors can be ruled out as being involved in aetiology of the defect. The higher incidence of the lesion occurring on the mesial aspect of the labial surface is suggestive of physical trauma. Also, the vulnerability of the prominent developing mandibular canine, with its thin or missing labial covering of bone, would be expected to lead to higher prevalence of the lesion in the lower

  2. Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?

    PubMed

    Teebi, A S; Druker, H A

    2001-01-01

    We report a 6-year-old male of first cousin parents with the unique constellation of frontal bossing with brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, hypoplastic nipples, rudimentary unilateral post-axial polydactyly of the hand, failure to thrive, mild to moderate developmental delay and sociable personality. Knoblock-Layer syndrome and Smith-Lemli-Opitz syndrome were considered in the differential diagnosis and were excluded. No similar cases were found in LDDB or other databases.

  3. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia

    PubMed Central

    Reddin, Gemma; Dearani, Joseph A.; Warnes, Carole A.; Cetta, Frank

    2016-01-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia. PMID:27047292

  4. Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant?

    PubMed

    De Coster, P J; Verbeeck, R M H; Holthaus, V; Martens, L C; Vral, A

    2006-11-01

    Seckel syndrome (SCKL) [OMIM Entry 210600] is a rare, autosomal recessive syndrome, characterized by severe intrauterine and postnatal growth retardation, microcephaly, mental retardation, and typical facial appearance with beaklike protrusion of the midface (bird-headed). Associated findings may include limb anomalies, dislocation of femoral heads, scoliosis, and gastrointestinal malformation. A 14-year-old boy is presented with brain hypoplasia, pachygyria, hydrocephaly, enamel hypoplasia and root dysplasia in the temporary dentition, and oligodontia, severe microdontia, and delayed eruption of the permanent dentition. The association of SCKL with the above unusual dental findings may represent a new phenotype.

  5. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia.

    PubMed

    Reddin, Gemma; Poterucha, Joseph T; Dearani, Joseph A; Warnes, Carole A; Cetta, Frank

    2016-02-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia.

  6. Successful staged neonatal repair of tetralogy of Fallot with long-segment hypoplasia of the aorta.

    PubMed

    Lu, Jimmy C; Shah, Sanket S; Owens, Sonal T; Dorfman, Adam L; Vedre, Ameeth; Goble, Monica M; Hirsch, Jennifer C; Charpie, John R

    2010-01-01

    We describe an extremely rare combination of tetralogy of Fallot (TOF), right-sided cervical aortic arch with long-segment hypoplasia, and other vascular anomalies. A two-stage surgical approach included aortic arch reconstruction followed by right ventricular muscle bundle division and ventricular septal defect closure a few weeks later. The initial clinical presentation, perioperative course, and imaging studies are presented along with a review of the relevant literature. This is the first report of successful neonatal repair of TOF with long-segment hypoplasia of the aorta.

  7. Bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in five painted storks.

    PubMed

    Weber, Martha A; Terrell, Scott P; Neiffer, Donald L; Miller, Michele A; Mangold, Barbara J

    2002-08-01

    Five painted storks were treated with fenbendazole for 5 days for internal parasitism. Four birds died following treatment. Profound heteropenia was a consistent finding in all samples evaluated; additionally, the 1 surviving bird had progressive anemia. Consistent necropsy findings in the 4 birds that died were small intestinal crypt cell necrosis and severe bone marrow depletion and necrosis. Fenbendazole has been associated with bone marrow hypoplasia and enteric damage in mammals and other species of birds. The dosages of fenbendazole used in birds are often substantially higher than those recommended for mammals, which may contribute to bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in birds.

  8. Lung hypoplasia and surfactant system immaturity induced in the fetal rat by prenatal exposure to nitrofen.

    PubMed

    Alfanso, L F; Arnaiz, A; Alvarez, F J; Qi, B; Diez-Pardo, J A; Vallis-i-Soler, A; Tovar, J A

    1996-01-01

    We studied the biochemical maturity of the lungs of fetuses born to rats exposed to nitrofen on day 9.5 of gestation. In comparison with controls, nitrofen-treated fetuses had pulmonary hypoplasia (decreased lung/body weight), lung hypocellularity (low DNA content) and cellular atrophy (low protein/DNA and phospholipid/DNA) on gestational days 19 and 21. Treated animals with congenital diaphragmatic hernia (CDH) also had cell atrophy and surfactant immaturity (decreased disaturated phosphatidylcholine/DNA) near term. Our data demonstrate that nitrofen causes lung hypoplasia and some degree of surfactant system immaturity that is particularly prominent in fetuses with CDH.

  9. Neurologic complications of disorders of the adrenal glands.

    PubMed

    Bertorini, Tulio E; Perez, Angel

    2014-01-01

    Disorders of the adrenal glands frequently have secondary neurological manifestations, while some diseases that involve the central nervous system are accompanied by adrenal gland dysfunction. Excessive corticosteroid secretions in primary or secondary Cushing's syndrome causes muscle weakness and behavioral disturbances, such as emotional lability and sometimes depression, while adrenal insufficiency may cause fatigue, weakness, and depression. Adrenoleukodystrophy and adrenoneuromyelopathy are X-linked recessive disorders of the metabolism of very long chain fatty acids that manifest with white matter abnormalities of the brain, myelopathy and/or neuropathy, as well as adrenal insufficiency. Other disorders of the adrenal glands include hyperaldosteroidism, which may cause weakness from hypokalemia. Dysfunction of the adrenal medulla causes excessive or deficient secretion of catecholamines, primarily causing cardiovascular symptoms. This chapter reviews the clinical manifestations and diagnostic aspects and treatment of the various disorders of the adrenal glands. Some of the congenital adrenal diseases are also discussed.

  10. How Do Health Care Providers Diagnose Adrenal Gland Disorders?

    MedlinePlus

    ... Gland Disorders > About > Diagnosis Page Content ​ ​How do health care providers diagnose adrenal gland disorders? Methods for diagnosing ... Tumors To diagnose an adrenal gland tumor, a health care provider may order one or more tests. 3 ...

  11. Imaging of the adrenal gland lesions.

    PubMed

    Herr, Keith; Muglia, Valdair F; Koff, Walter José; Westphalen, Antonio Carlos

    2014-01-01

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed.

  12. Image-Guided Adrenal and Renal Biopsy

    PubMed Central

    Sharma, Karun V.; Venkatesan, Aradhana M.; Swerdlow, Daniel; DaSilva, Daniel; Beck, Avi; Jain, Nidhi; Wood, Bradford J.

    2010-01-01

    Image-guided biopsy is a safe and well-established technique that is familiar to most interventional radiologists (IRs). Improvements in image-guidance, biopsy tools and biopsy techniques now routinely allow for safe biopsy of renal and adrenal lesions which traditionally were considered difficult to reach or technically challenging. Image-guided biopsy is used to establish the definitive tissue diagnosis in adrenal mass lesions that can not be fully characterized with imaging or laboratory tests alone. It is also used to establish definitive diagnosis in some cases of renal parenchymal disease and has an expanding role in diagnosis and characterization of renal masses prior to treatment. Although basic principles and techniques for image-guided needle biopsy are similar regardless of organ, this paper will highlight some technical considerations, indications and complications which are unique to the adrenal gland and kidney because of their anatomic location and physiologic features. PMID:20540919

  13. Imaging of the adrenal gland lesions*

    PubMed Central

    Herr, Keith; Muglia, Valdair F.; Koff, Walter José; Westphalen, Antonio Carlos

    2014-01-01

    With the steep increase in the use of cross-sectional imaging in recent years, the incidentally detected adrenal lesion, or "incidentaloma", has become an increasingly common diagnostic problem for the radiologist, and a need for an approach to classifying these lesions as benign, malignant or indeterminate with imaging has spurred an explosion of research. While most incidentalomas represent benign disease, typically an adenoma, the possibility of malignant involvement of the adrenal gland necessitates a reliance on imaging to inform management decisions. In this article, we review the literature on adrenal gland imaging, with particular emphasis on computed tomography, magnetic resonance imaging, and photon-emission tomography, and discuss how these findings relate to clinical practice. Emerging technologies, such as contrast-enhanced ultrasonography, dual-energy computed tomography, and magnetic resonance spectroscopic imaging will also be briefly addressed. PMID:25741090

  14. Adrenal Hemorrhage in Neonates: Unusual Presentation.

    PubMed

    Alabsi, Samir Y; Layland, Teresa

    2015-01-01

    Adrenal hemorrhage (AH) is a relatively uncommon condition in newborns. It may be asymptomatic or may present with flank abdominal mass, anemia, jaundice, or rarely as scrotal bruising or hematoma. We report two cases of AH in neonates; the first presented with scrotal hematoma and the second with adrenal mass associated with hypertension and oliguria, primarily secondary to coincidental renal vein thrombosis. Diagnosis was confirmed by abdominal ultrasound. Patients were managed conservatively with clinical observation and by following hemoglobin and bilirubin levels closely. Both infants were discharged without surgical intervention after several days in the hospital. Clinicians should consider AH when a newborn presents with scrotal bruising or hematoma, unexplained anemia, unexplained jaundice, or flank abdominal mass. Timely ultrasonographic evaluation of both adrenal glands and testes in neonates with scrotal hematoma may spare infants from unnecessary surgical intervention because scrotal hematoma often raises the suspicion of testicular torsion.

  15. Bilateral adrenal hemorrhage in polycythemia vera

    PubMed Central

    Agito, Katrina; Krug, Esther I.

    2016-01-01

    Bilateral adrenal hemorrhage (BAH) is a rare complication typically seen in critically ill patients, which can lead to acute adrenal insufficiency and death unless it is recognized promptly and treated appropriately. We describe the case of a 64-year-old man with polycythemia vera found to be unresponsive with fever, hypotension, tachycardia, and hypoglycemia. Electrocardiogram showed ST-elevation with elevated troponin, hemoglobin, prothrombin time, and partial thromboplastin time. He required aggressive ventilator and vasopressor support. Despite primary coronary intervention, he remained hypotensive. Random cortisol level was low. He received stress dose hydrocortisone with immediate hemodynamic stability. BAH was highly suspected and was confirmed by non-contrast abdominal computed tomography. Prompt recognition and timely initiated treatment remain crucial to impact the mortality associated with acute adrenal insufficiency. PMID:27609733

  16. Principles and management of adrenal cancer

    SciTech Connect

    Javadpour, N.

    1987-01-01

    This book provides information on adrenal diseases of latest developments and guides the clinicians in the care of their patients. The book is divided into two parts. The first section gives an overview of the embryology, anatomy, physiology, markers, pathology, imaging and the current progress in the field. The second edition covers specific diseases of the adrenal cortex and medulla. The increasingly significant roles played by steroids, catecholamines, blockers, computed tomography and magnetic resonance are elucidated and discussed. The contents include: Overview of progress; current problems, and perspectives - embryology anatomy, physiology, and biologic markers; pathology; advances in diagnosis; imaging techniques; adrenal disorders in childhood; primary aldosteronism; Cushing's syndrome; carcinoma; pheochromocytoma; neuroblastoma; metastatic disease; surgical management; and subject index.

  17. Laparoscopic Operative Technique for Adrenal Tumors

    PubMed Central

    Szostek, Grzegorz; Nazarewski, Slawomir; Borkowski, Tomasz; Chudzinski, Witold; Tolloczko, Tadeusz

    2000-01-01

    Background and Objectives: Laparoscopy has acquired an unquestionable position in surgical practice as a diagnostic and operative tool. Recently, the laparoscopic approach has become a valuable option for adrenalectomy. This paper reports, in detail, our experience of laparoscopic adrenalectomy performed for adrenal tumors. Methods: We performed 12 laparoscopic adrenalectomies from October 29, 1997 to October 31, 1998. The technique of laparoscopic adrenalectomy is described thoroughly in all relevant details for either left or right-sided adrenal lesions. Results: The presented technique of laparoscopic adrenalectomy in all 12 cases provided good and relatively simple exposure of the immediate operative area. All relevant vascular elements were safely controlled, adrenal tumors could be successfully removed, and adequate hemostasis was achieved. No intraoperative or postoperative complications were observed. Conclusions: Laparoscopic adrenalectomy is a safe alternative to open surgery and is preferred for most patients because of shorter postoperative hospital stay and less postoperative discomfort. PMID:10917119

  18. Adrenal glands in patients with cogenital renal anomalies: CT appearance

    SciTech Connect

    Kenney, P.J.; Robbins, G.L.; Ellis, D.A.; Spirt, B.A.

    1985-04-01

    The CT appearance of the adrenal glands was investigated in 30 patients with congenital renal anomalies. The ipsilateral adrenal was clearly identified in 83% of these patients; in all of them, the adrenal was a paraspinal disk-shaped organ, which appeared linear on CT. Conversely, the adrenals retained their normal shape in a control group of 20 patients with acquired renal atrophy or prior simple nephrectomy.

  19. Localization of metastatic adrenal cortical carcinoma with Ga-67

    SciTech Connect

    Ward, F.T.; Anderson, J.H.; Jelinek, J.; Anderson, D.W. )

    1991-02-01

    Data are limited on the localization of Ga-67 in primary or metastatic adrenal cortical carcinoma. We report the localization of Ga-67 to pathologically confirmed adrenal cortical carcinoma metastatic to the lung. A review of the literature revealed four patients have previously been reported to have metastatic adrenal cortical carcinoma detected on Ga-67 scan. Gallium imaging may be useful in the evaluation of patients with adrenal cortical carcinoma. SPECT imaging should further improve lesion resolution and localization.

  20. Two cases of neonatal adrenal hemorrhage presenting with persistent jaundice.

    PubMed

    Ruffini, E; De Petris, L; Zorzi, G; Paoletti, P; Mambelli, G; Carlucci, A

    2013-01-01

    The adrenal hemorrhage is a relatively rare event in newborns but must be considered in the presence of a persistent unexplained jaundice, especially in presence of predisposing factors. Serial ultrasonography is the modality of choice for initial diagnosis and follow-up of neonatal adrenal hemorrhage. We report two cases of neonatal adrenal hemorrhage presenting with persistent jaundice. The causes of the neonatal adrenal hemorrhages were a difficult vaginal delivery in macrosomic infant and a neonatal infection.

  1. Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

    PubMed

    Bonamichi, Beatriz D S F; Santiago, Stella L M; Bertola, Débora R; Kim, Chong A; Alonso, Nivaldo; Mendonca, Berenice B; Bachega, Tania A S S; Gomes, Larissa G

    2016-10-01

    P450 oxidoreductase deficiency (PORD) is a variant of congenital adrenal hyperplasia that is caused by POR gene mutations. The POR gene encodes a flavor protein that transfers electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 type II (including 21-hydroxylase, 17α-hydroxylase 17,20 lyase and aromatase), which is fundamental for their enzymatic activity. POR mutations cause variable impairments in steroidogenic enzyme activities that result in wide phenotypic variability ranging from 46,XX or 46,XY disorders of sexual differentiation, glucocorticoid deficiency, with or without skeletal malformations similar to Antley-Bixler syndrome to asymptomatic newborns diagnosed during neonatal screening test. Little is known about the PORD long-term evolution. We described a 46,XX patient with mild atypical genitalia associated with severe bone malformation, who was diagnosed after 13 years due to sexual infantilism. She developed large ovarian cysts and late onset adrenal insufficiency during follow-up, both of each regressed after hormone replacement therapies. We also described a late surgical approach for the correction of facial hypoplasia in a POR patient.

  2. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

    Nimkarn, Saroj; Lin-Su, Karen; New, Maria I

    2011-10-01

    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied.

  3. Brain serotonin and pituitary-adrenal functions

    NASA Technical Reports Server (NTRS)

    Vernikos-Danellis, J.; Berger, P.; Barchas, J. D.

    1973-01-01

    It had been concluded by Scapagnini et al. (1971) that brain serotonin (5-HT) was involved in the regulation of the diurnal rhythm of the pituitary-adrenal system but not in the stress response. A study was conducted to investigate these findings further by evaluating the effects of altering brain 5-HT levels on the daily fluctuation of plasma corticosterone and on the response of the pituitary-adrenal system to a stressful or noxious stimulus in the rat. In a number of experiments brain 5-HT synthesis was inhibited with parachlorophenylalanine. In other tests it was tried to raise the level of brain 5-HT with precursors.

  4. Cystic Pheochromocytoma Presenting as Adrenal Cyst

    PubMed Central

    Abdulsalam, Mohammed Shafi; Satish, Priyanka; Janakiraman, Raghunath Keddy; Singh, Shivshankar

    2016-01-01

    Pheochromocytomas are usually solid tumours. But it can present as cystic lesions in the adrenal gland. Cystic lesions in adrenal gland with hypertension needs attention to rule out pheochromocytoma. If ignored, it may lead to hypertensive emergency, multisystem crisis and death. Early diagnosis with biochemistry, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) of abdomen, proper functional imaging like Meta Iodo Benzyl Guanidine (MIBG) scan is essential. Proper preoperative preparation is important to prevent hypertensive crisis during and after surgery. We are reporting a case of cystic pheochromocytoma in a young male. PMID:28050427

  5. Noncholinergic control of adrenal catecholamine secretion.

    PubMed Central

    Livett, B G; Marley, P D

    1993-01-01

    It has been known for over 70 years that adrenal catecholamine secretion can be modulated or elicited by noncholinergic neurotransmitters and hormones. However, our understanding of the cellular mechanisms by which these agents produce their effects and the physiological conditions under which they act are not well characterised. Here we briefly review the mechanisms by which one such agent (the neuropeptide substance P) modulates the cholinergic secretory response of adrenal chromaffin cells, and another agent (angiotensin II) elicits catecholamine secretion independently of the cholinergic innervation. PMID:7507911

  6. Adrenal pseudotumors on CT due to dilated portosystemic veins

    SciTech Connect

    Mitty, H.M.; Cohen, B.A.; Sprayregen, S.; Schwartz, K.

    1983-10-01

    The adrenal and periadrenal venous systems are part of the portosystemic collateral pathways that may enlarge in portal hypertension. The cross-sectional image of the resulting enlarged venous channels may simulate an adrenal msss. Three examples of such computed tomographic (CT) scans are presented with selective venographic correlation. Patients with portal hypertension and suspected adrenal pathology may require enhanced or dynamic CT scans.

  7. Ultrasonographic appearance of adrenal glands in healthy and sick cats.

    PubMed

    Combes, Anaïs; Pey, Pascaline; Paepe, Dominique; Rosenberg, Dan; Daminet, Sylvie; Putcuyps, Ingrid; Bedu, Anne-Sophie; Duchateau, Luc; de Fornel-Thibaud, Pauline; Benchekroun, Ghita; Saunders, Jimmy H

    2013-06-01

    The first part of the study aimed to describe prospectively the ultrasonographic features of the adrenal glands in 94 healthy cats and 51 chronically sick cats. It confirmed the feasibility of ultrasonography of adrenal glands in healthy and chronically sick cats, which were not statistically different. The typical hypoechoic appearance of the gland surrounded by hyperechoic fat made it recognisable. A sagittal plane of the gland, not in line with the aorta, may be necessary to obtain the largest adrenal measurements. The reference intervals of adrenal measurements were inferred from the values obtained in the healthy and chronically sick cats (mean ± 0.96 SD): adrenal length was 8.9-12.5 mm; cranial height was 3.0-4.8 mm; caudal height was 3.0-4.5 mm. The second part of the study consisted of a retrospective analysis of the ultrasonographic examination of the adrenal glands in cats with adrenal diseases (six had hyperaldosteronism and four had pituitary-dependent hyperadrenocorticism) and a descriptive comparison with the reference features obtained in the control groups from the prospective study. Cats with hyperaldosteronism presented with unilateral severely enlarged adrenal glands. However, a normal contralateral gland did not preclude a contralateral infiltration in benign or malignant adrenal neoplasms. The ultrasonographic appearance of the adrenal glands could not differentiate benign and malignant lesions. The ultrasonographic appearance of pituitary-dependent hyperadrenocorticism was mainly a symmetrical adrenal enlargement; however, a substantial number of cases were within the reference intervals of adrenal size.

  8. Imaging of an adrenal cortical carcinoma and its skeletal metastasis

    SciTech Connect

    Drane, W.E.; Graham, M.M.; Nelp, W.B.

    1983-08-01

    Though the typical scintigraphic appearance in adrenal cortical carcinoma is bilateral nonvisualization of the adrenal glands, we report a case with simultaneous visualization of both an adrenal cortical carcinoma and its skeletal metastasis using 6-beta-(/sup 131/I)iodomethyl-19-norcholesterol.

  9. Imaging of an adrenal cortical carcinoma and its skeletal metastasis

    SciTech Connect

    Drane, W.E.; Graham, M.M.; Nelp, W.B.

    1983-08-01

    Though the typical scintigraphic appearance in adrenal cortical carcinoma is bilateral nonvisualization of the adrenal glands, a case with simultaneous visualization of both an adrenal cortical carcinoma and its skeletal metastasis using 6-..beta..-(/sup 131/I)iodomethyl-19-norcholesterol is reported.

  10. Biopsy of the right adrenal gland by the transhepatic approach

    SciTech Connect

    Price, R.B.; Bernardino, M.E.; Berkman, W.A.; Sones, P.J. Jr.; Torres, W.E.

    1983-08-01

    A transhepatic computed-tomographic-guided biopsy of a right adrenal mass is described. This method is simpler to perform than the usual posterior biopsy carried out with the patient prone and is less likely to cause a complicating pneumothorax. In seven of eight patients with right adrenal masses, adrenal tissue was obtained and an accurate diagnosis was possible. No complications resulted.

  11. Physiological Basis for the Etiology, Diagnosis, and Treatment of Adrenal Disorders: Cushing’s Syndrome, Adrenal Insufficiency, and Congenital Adrenal Hyperplasia

    PubMed Central

    Raff, Hershel; Sharma, Susmeeta T.; Nieman, Lynnette K.

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is a classic neuroendocrine system. One of the best ways to understand the HPA axis is to appreciate its dynamics in the variety of diseases and syndromes that affect it. Excess glucocorticoid activity can be due to endogenous cortisol overproduction (spontaneous Cushing’s syndrome) or exogenous glucocorticoid therapy (iatrogenic Cushing’s syndrome). Endogenous Cushing’s syndrome can be subdivided into ACTH-dependent and ACTH-independent, the latter of which is usually due to autonomous adrenal overproduction. The former can be due to a pituitary corticotroph tumor (usually benign) or ectopic ACTH production from tumors outside the pituitary; both of these tumor types overexpress the proopiomelanocortin gene. The converse of Cushing’s syndrome is the lack of normal cortisol secretion and is usually due to adrenal destruction (primary adrenal insufficiency) or hypopituitarism (secondary adrenal insufficiency). Secondary adrenal insufficiency can also result from a rapid discontinuation of long-term, pharmacological glucocorticoid therapy because of HPA axis suppression and adrenal atrophy. Finally, mutations in the steroidogenic enzymes of the adrenal cortex can lead to congenital adrenal hyperplasia and an increase in precursor steroids, particularly androgens. When present in utero, this can lead to masculinization of a female fetus. An understanding of the dynamics of the HPA axis is necessary to master the diagnosis and differential diagnosis of pituitary-adrenal diseases. Furthermore, understanding the pathophysiology of the HPA axis gives great insight into its normal control. PMID:24715566

  12. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    PubMed Central

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed. Images PMID:8423610

  13. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  14. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    PubMed

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  15. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia

    ERIC Educational Resources Information Center

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.

    2005-01-01

    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

  16. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  17. Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea.

    PubMed

    Belfield, J C; Witana, J S; Connolly, D J A

    2007-01-01

    Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes the syndrome and demonstrates the findings on CT and MR imaging of temporal bones.

  18. Unilateral inferior turbinate hypoplasia caused by a longstanding (approximately 35 yr) nasal foreign body.

    PubMed

    Derosas, Fiorenza; Marioni, Gino; Brescia, Giuseppe; Florio, Alessandra; Staffieri, Claudia; Staffieri, Alberto

    2008-01-01

    We report the unusual case of a 44-year-old man who presented with a plastic foreign body that had been lodged in his right nasal cavity for approximately 35 years. Initial attempts to remove the object were unsuccessful; only after it was broken into several parts was removal achieved. Rigid nasal endoscopy and computed tomography revealed hypoplasia of the ipsilateral inferior turbinate.

  19. Recovery of Adrenal Function in Patients with Glucocorticoids Induced Secondary Adrenal Insufficiency

    PubMed Central

    Baek, Jong Ha; Kim, Soo Kyoung; Jung, Jung Hwa; Hahm, Jong Ryeal

    2016-01-01

    Background The chronic use of glucocorticoids (GC) suppresses function of the hypothalamic-pituitary-adrenal axis and often results in secondary adrenal insufficiency (AI). The present study aimed to determine the recovery rate of adrenal function in patients with secondary AI within 1 to 2 years and to assess the factors predictive of adrenal function recovery. Methods This was a retrospective observational study that enrolled patients diagnosed with GC-induced secondary AI between 2007 and 2013. AI was defined by peak serum cortisol levels <18 µg/dL during a standard-dose short synacthen test (SST). A follow-up SST was performed after 1 to 2 years, and responders were defined as those with adrenocorticotropic hormone (ACTH)-stimulated peak serum cortisol levels ≥18 µg/dL. Results Of the total 34 patients diagnosed with GC-induced secondary AI at first, 20 patients (58.8%) recovered normal adrenal function by the time of the follow-up SST (median follow-up period, 16.5 months). Although the baseline serum ACTH and cortisol levels at the first SST did not differ between responders and non-responders, the incremental cortisol response during the first SST was higher in responders than that of non-responders (7.88 vs. 3.56, P<0.01). Additionally, higher cortisol increments during the first SST were an independent predictive factor of the adrenal function recovery (odds ratio, 1.58; 95% confidence interval, 1.02 to 2.46; P<0.05). Conclusion In the present study, adrenal function recovery was achieved frequently in patients with GC-induced secondary AI within 1 to 2 years. Additionally, an incremental cortisol response at the first SST may be an important predictive factor of adrenal function recovery. PMID:26676337

  20. Adrenal venous sampling using Dyna-CT--a practical guide.

    PubMed

    Plank, Christina; Wolf, Florian; Langenberger, Herbert; Loewe, Christian; Schoder, Maria; Lammer, Johannes

    2012-09-01

    Primary hyperaldosteronism due to aldosterone secreting adrenal adenomas is an important and potentially curable cause for hypertension. The differentiation between unilateral or bilateral adrenal adenomas is crucial, as unilateral adenomas can easily be cured by surgery whereas bilateral adenomas have to be treated conservatively. Exact diagnosis can be made when unilateral or bilateral hormone production is proven with adrenal vein sampling. We present an effective step-by-step technique how to perform an adrenal vein sampling with a special emphasis on how to reliably catheterize the right adrenal vein using Dyna CT.

  1. Imaging features of benign adrenal cysts.

    PubMed

    Sanal, Hatice Tuba; Kocaoglu, Murat; Yildirim, Duzgun; Bulakbasi, Nail; Guvenc, Inanc; Tayfun, Cem; Ucoz, Taner

    2006-12-01

    Benign adrenal gland cysts (BACs) are rare lesions with a variable histological spectrum and may mimic not only each other but also malignant ones. We aimed to review imaging features of BACs which can be helpful in distinguishing each entity and determining the subsequent appropriate management.

  2. Adrenal metabolism of mitotane and related compounds

    SciTech Connect

    Djanegara, T.K.S.

    1989-01-01

    Mitotane (o,p{prime}-DDD; 1-(2-chlorophenyl)-1-(4-chlorophenyl)-2,2-dichloroethane) has been used in the treatment of Cushing's syndrome due to adrenal hyperfunction and it the drug of choice for adrenocortical carcinoma. The object of this investigation is to study the biotransformation of o,p{prime}-DDD and p,p{prime}-DDD in dogs and bovine adrenal cortex to explain its selective toxicity and mechanism of action. The in vitro biotransformation of {sup 14}C-labeled o,p{prime}-DDD and p,p{prime}-DDD by dog and bovine adrenal cortex as studied. Of the cortex subcellular fractions, the cytosol fraction was found to be the most active in metabolizing the substrates, followed by the mitochondrial fraction. This metabolism including that in cytosolic fractions, did not take place with boiled enzyme preparations and required an NADPH generating system. This study has been directed towards establishing the metabolic activation mechanism which may account for the adrenocorticolytic effect of mitotane in contrast to detoxication by the liver. HPLC and TLC metabolic profiles have been generated from incubations of bovine and dog adrenal cortex homogenates and their subfractions for {sup 14}C-labeled p,p{prime}-DDD, o,p{prime}-DDD and its monochloroethylene derivative, o,p{prime}-DDMU.

  3. Laparoscopic adrenalectomy for benign adrenal tumors.

    PubMed

    Ishikawa, T; Inaba, M; Nishiguchi, Y; Ishibashi, R; Ogisawa, K; Yukimoto, K; Ogawa, Y; Onoda, N; Hirakawa, K; Chung, Y S

    2000-06-01

    Laparoscopic adrenalectomy has been rapidly accepted for treatment of benign adrenal tumors. To evaluate the advantages of laparoscopic adrenalectomy, we examined 55 patients who underwent laparoscopic adrenalectomy. In all patients, adrenal tumors were successfully removed. The mean operating time was 143 minutes, and the estimated mean blood loss was 49 mL in all patients. The postoperative course was uneventful in all cases. The mean frequency of administration of analgesics was only 2.9 times, and the time elapsed to first walking after surgery was 17 hours. The peak white blood cell count and C-reactive protein values after surgery were 8,266 +/- 1,963/mm3 and 2.5 +/- 1.2 mg/dL, respectively. Of the 55 patients, 44 underwent total adrenalectomy and another 11 underwent partial adrenalectomy, which was introduced in the expectation of preserving normal adrenal cortex; it is therefore indicated in solitary and peripherally located benign tumors. The mean operating time was 154 minutes for the total adrenalectomy, which was longer than that of partial adrenalectomy (92 minutes). The estimated blood loss was 50 mL for the total and 46 mL for the partial adrenalectomy. The postoperative course was uneventful and surgical outcome was excellent in each group. In conclusion, our results are encouraging enough to suggest that laparoscopic adrenalectomy should be a preferential therapeutic option for benign adrenal tumors; also, partial adrenalectomy could be a safe, effective, and less invasive procedure in selected cases.

  4. Delay in Diagnosis of Adrenal Insufficiency Is a Frequent Cause of Adrenal Crisis

    PubMed Central

    Rabijewski, Michał

    2013-01-01

    Delay of diagnosis of primary adrenal insufficiency (PAI) leads to adrenal crisis which is potentially lethal complication. The objective of our work was an assessment whether the establishment of diagnosis of adrenocortical insufficiency in Poland is so much delayed as assessed in the past. We have analysed data from 60 patients with diagnosis of PAI established in our department during the past 12 years and who are still under our care. We found that the time to diagnosis of primary adrenal insufficiency in Poland exceeds 3 months in every patient and 6 months in patients admitted with symptoms of adrenal crisis. Forty-four percent of patients were diagnosed only just after the hospitalisation due to crisis, despite the evident signs and symptoms of PAI. Lack of appetite and loss of body weight occurred in all patients and for that reason a diagnosis of chronic gastric and duodenal ulcer disease was the most often incorrect diagnosis. After the proper diagnosis and treatment, in the course of 1–11 years of observation, there was only 6 imminent adrenal crises in 5 patients. Our results indicated that training of primary care physicians in the field of recognising and treatment of adrenal insufficiency is still essential. PMID:23864857

  5. Premature closure of the spheno-occipital synchondrosis in Pfeiffer syndrome: a link to midface hypoplasia.

    PubMed

    Paliga, James Thomas; Goldstein, Jesse A; Vossough, Arastoo; Bartlett, Scott P; Taylor, Jesse Adam

    2014-01-01

    The spheno-occipital synchondrosis (SOS) is a critical component of midfacial and cranial base growth. Premature closure has been associated with midface hypoplasia in animal models and syndromic craniosynostosis subpopulations with Apert and Muenke syndromes. To link premature SOS closure and midface hypoplasia in patients with Pfeiffer syndrome, a retrospective case-control study was performed in patients treated at a large craniofacial center between 1982 and 2012 diagnosed with Pfeiffer syndrome. At least 1 computed tomography (CT) scan was required to assess SOS patency. Age-/sex-matched control CT scans were also assessed for SOS patency. Three independent reviewers with high interrater reliability (κ = 0.88) graded SOS patency as open, partially closed, or completely closed. Wilcoxon rank sum test compared the Pfeiffer patients with control subjects. A total of 63 CT scans in 16 patients with Pfeiffer syndrome, all with midface hypoplasia, and 63 age-/sex-matched control scans, none of whom had midface hypoplasia, met inclusion criteria. Earliest partial SOS closure in patients with Pfeiffer syndrome was seen at 5 days compared with control subjects at 7.07 years. Earliest age at complete fusion was 2.76 years in the Pfeiffer cohort and 12.74 years in control subjects. Average age at partial closure was significantly younger (4.99 ± 3.33 years; n = 31 scans) in patients with Pfeiffer syndrome compared with control subjects (10.92 ± 3.53 years) (P = 0.0005), whereas average age at complete closure (11.90 ± 7.04 years) was not significantly different than that in control subjects (16.07 ± 3.39 years). Although definitive causality cannot be concluded, a strong correlation exists between midface hypoplasia and premature SOS closure in Pfeiffer syndrome.

  6. Histoplasmosis of the adrenal glands studied by CT

    SciTech Connect

    Wilson, D.A.; Muchmore, H.G.; Tisdal, R.G.; Fahmy, A.; Pitha, J.V.

    1984-03-01

    Computed tomography (CT) of the adrenal glands was performed on seven patients who had histologically proved disseminated histoplasmosis. All seven patients showed some degree of adrenal gland abnormality. The range of CT findings included minimal enlargement with faint flecks of calcium, moderate enlargement with focal low attenuation nodules, and massive enlargement with large areas of necrosis or dense calcification. The changes in each patient were bilateral and symmetrical. Adrenal gland shape was usually preserved. Finding of percutaneous adrenal biopsy, which was performed under CT guidance, made the diagnosis in one patient. Five of seven patients had adrenal insufficiency. It is concluded that the diagnosis of disseminated histoplasmosis should be considered in any patient who has bilateral adrenal gland enlargement and who resides in an endemic area, especially if there is evidence of adrenal insufficiency.

  7. Laparoscope resection of ectopic corticosteroid-secreting adrenal adenoma.

    PubMed

    Wang, Xian-Ling; Dou, Jing-Tao; Gao, Jiang-Ping; Zhong, Wen-Wen; Jin, Du; Hui, Lüzhao; Lu, Ju-Ming; Mu, Yi-Ming

    2012-01-01

    Tumors originating from ectopic adrenal tissue are relatively rare. In this article, we describe a case with Cushing's syndrome caused by an ectopic adrenal adenoma. A 38 year-old male patient presenting with cushingoid appearance for 2 years was diagnosed to have ACTH-independent Cushing's syndrome based on endocrinological evaluation. Mutiple radiological examinations detected bilateral adrenal atrophy. When the images were investigated in a more expanded scope, a 3.0×3.5×5.3 cm mass was detected in the anterior of left renal hilum and left renal vein. The mass was successfully resected with intraoperative endoscopy and pathological evaluation revealed an ectopic adrenal tumor. It is suggested that when the endocrinlogically confirmed adrenal neoplasm could not be well and definitely localized, the possibility of ectopic adrenal should be presumed and further radiography examinations should extend to the field where ectopic adrenal usually presents.

  8. Adrenal myelolipoma: Controversies in its management

    PubMed Central

    Shenoy, Vasanth G.; Thota, Anuroop; Shankar, Ravi; Desai, Mallikarjun G.

    2015-01-01

    Adrenal myelolipomas (AMLs) are rare, benign neoplasms of the adrenal gland with varied clinical presentations. The rarity of these tumors precludes any case-controlled or randomized study into their management. The available literature is limited to case reports and short series from referral centers. This review is an effort to put the available literature into perspective such that clinical decision making can be done with some clarity. The PubMed and Cochrane databases were searched with key words Adrenal Myelolipoma, Adrenal Incidentaloma (AI) and Adrenal Collision Tumor (ACT). From over 1300 search results, 547 relevant publications dating from 1954 to 2014 were reviewed. Details of about 1231 AMLs in the indexed literature were analyzed. Increasing usage of imaging studies has significantly increased the discovery of AMLs. Although AMLs are benign tumors, those measuring larger than 6 cm are prone to rupture and hemorrhage. Thorough endocrine work-up may benefit a selected group of patients, especially those who are hypertensive, diabetic/pre-diabetic, young patients (<50 years) and those with bilateral AML. Regular observation is needed for AML patients who are being treated non-operatively, as many of them may require surgery during follow-up. Although the AACE/AAES guidelines for AI (2009) exclude AML from mandatory metabolic work-up for a newly discovered AI, we feel that a significant number of patients with AML would benefit from metabolic work-up. In the literature, endocrine dysfunction in AML is 7% as compared with 11% in AI. Endocrine dysfunction in AML is probably underdiagnosed. PMID:25878407

  9. Sectional anatomy of the adrenal gland in the coronal plane.

    PubMed

    Ma, Gang; Liu, Shu Wei; Zhao, Zhen Mei; Lin, Xiang Tao; Lou, Li; Li, Zhen Ping; Tang, Yu Chun; Zhong, Shi Zhen

    2008-05-01

    To provide practical anatomic data for the imaging diagnosis and surgical treatment of adrenal disease, we investigated the anatomy of the adrenal gland and its relationships to regional structures using 31 sets of serial coronal sections of upper abdomen of Chinese adult cadavers and correlated coronal magnetic resonance (MR) images of ten upper abdomens of adult healthy volunteers and coronal reconstructed multislice spiral computed tomography (MSCT) images of five patients without lesions in the adrenal gland. The adrenal glands were visualized mainly on the successive coronal sections between 18 mm anterior to the posterior margin of inferior vena cava and 24 mm posterior to the posterior margin of inferior vena cava. In general, the left adrenal gland was visualized two sections earlier than the right adrenal gland. On the plane through the anterior parts of bilateral renal hili (A18), the appearance rate of bilateral adrenal glands was 100%, and the maximal measurements of bilateral adrenal glands were visualized. The length, width, thickness of right adrenal body, thickness of medial limb and lateral limb were, respectively, 34.02 +/- 2.12 mm, 10.91 +/- 0.89 mm, 5.82 +/- 0.26 mm, 2.78 +/- 0.08 mm, 2.62 +/- 0.06 mm, whereas the measurements of left adrenal gland were 28.31 +/- 2.46 mm, 18.40 +/- 1.06 mm, 6.84 +/- 0.24 mm, 3.02 +/- 0.08 mm, 2.86 +/- 0.07 mm, respectively. The coronal plane has superior advantage in showing the bilateral adrenal glands. The shapes of adrenal glands are various, whereas the range of adrenal thickness is quite narrow. The thickness of adrenal medial and lateral limbs, especially the thickness of lateral limb are useful for the diagnosis of the bilateral adrenocortical disease.

  10. Three uncommon adrenal incidentalomas: a 13-year surgical pathology review

    PubMed Central

    2012-01-01

    Background The discovery of adrenal incidentalomas due to the widespread use of sophisticated abdominal imaging techniques has resulted in an increasing trend of adrenal gland specimens being received in the pathology laboratory. In this context, we encountered three uncommon adrenal incidentalomas. The aim of this manuscript is to report in detail the three index cases of adrenal incidentalomas in the context of a 13-year retrospective surgical pathology review. Methods The three index cases were investigated and analyzed in detail with relevant review of the English literature as available in PubMed and Medline. A 13-year retrospective computer-based histopathological surgical review was conducted in our laboratory and the results were analyzed in the context of evidence-based literature on adrenal incidentalomas. Results A total of 94 adrenal specimens from incidentalomas were identified, accounting for 0.025% of all surgical pathology cases. In all 76.6% were benign and 23.4% were malignant. A total of 53 females (56.4%) and 41 males (43.6%) aged 4 to 85 years were identified. The benign lesions included cortical adenoma (43.1%), pheochromocytoma (29.3%) and inflammation/fibrosis/hemorrhage (8.3%). Metastatic neoplasms were the most common malignant lesions (50%) followed by primary adrenocortical carcinomas (31.8%) and neuroblastoma (13.6%). These cases were discovered as adrenal incidentalomas that led to surgical exploration. The three index cases of adrenal incidentalomas with unusual pathologies were encountered that included (a) adrenal ganglioneuroma, (b) periadrenal schwannoma and (c) primary adrenal pleomorphic leiomyosarcoma. These cases are discussed, with a literature and clinicopathological review. Conclusions Adrenal lesions are uncommon surgical specimens in the pathology laboratory. However, higher detection rates of adrenal incidentalomas aided by the ease of laparoscopic adrenalectomy has resulted in increased adrenal surgical specimens

  11. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.

    PubMed Central

    Sabry, M A; Obenbergerova, D; Al-Sawan, R; Saleh, Q A; Farah, S; Al-Awadi, S A; Farag, T I

    1996-01-01

    A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously described rare association of femoral hypoplasia-unusual facies syndrome with preaxial polydactyly and suggests that the clinical spectrum of the syndrome could be stretched further to accommodate other unusual traits, for example, macrophallus and absent tibia. Images PMID:8929957

  12. Diffuse large B-cell lymphoma of the adrenal gland: a rare cause of primary adrenal insufficiency.

    PubMed

    de Sousa Lages, Adriana; Bastos, Margarida; Oliveira, Patrícia; Carrilho, Francisco

    2016-03-18

    Although it is a rare entity, primary lymphoma of the adrenal gland should be considered in the differential diagnosis of bilateral nodular adrenal lesions, particularly when there is evidence of associated adrenal insufficiency. We describe the case of an 83-year-old woman admitted to the emergency department due to a month's history of asthenia, weight loss, anorexia and nausea. Abdominopelvic CT showed bilateral nodular lesions of adrenal glands and a stimulation test with tetracosactide was compatible with primary adrenal insufficiency. CT-guided biopsy of the left adrenal gland was performed, and histopathological results were consistent with diffuse large B-cell lymphoma. Positron emission tomography (18)F-fluorodeoxyglucose detected two intensely hypermetabolic lesions limited to both adrenal glands. Replacement therapy with hydrocortisone 15 mg/day and fludrocortisone 0.1 mg/day was promptly started and chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone was initiated after haematology-oncology consultation.

  13. Structural Variations in Articular Cartilage Matrix Are Associated with Early-Onset Osteoarthritis in the Spondyloepiphyseal Dysplasia Congenita (Sedc) Mouse

    PubMed Central

    Macdonald, David W.; Squires, Ryan S.; Avery, Shaela A.; Adams, Jason; Baker, Melissa; Cunningham, Christopher R.; Heimann, Nicholas B.; Kooyman, David L.; Seegmiller, Robert E.

    2013-01-01

    Heterozgyous spondyloepiphyseal dysplasia congenita (sedc/+) mice expressing a missense mutation in col2a1 exhibit a normal skeletal morphology but early-onset osteoarthritis (OA). We have recently examined knee articular cartilage obtained from homozygous (sedc/sedc) mice, which express a Stickler-like phenotype including dwarfism. We examined sedc/sedc mice at various levels to better understand the mechanistic process resulting in OA. Mutant sedc/sedc, and control (+/+) cartilages were compared at two, six and nine months of age. Tissues were fixed, decalcified, processed to paraffin sections, and stained with hematoxylin/eosin and safranin O/fast green. Samples were analyzed under the light microscope and the modified Mankin and OARSI scoring system was used to quantify the OA-like changes. Knees were stained with 1C10 antibody to detect the presence and distribution of type II collagen. Electron microscopy was used to study chondrocyte morphology and collagen fibril diameter. Compared with controls, mutant articular cartilage displayed decreased fibril diameter concomitant with increases in size of the pericellular space, Mankin and OARSI scores, cartilage thickness, chondrocyte clustering, proteoglycan staining and horizontal fissuring. In conclusion, homozygous sedc mice are subject to early-onset knee OA. We conclude that collagen in the mutant’s articular cartilage (both heterozygote and homozygote) fails to provide the normal meshwork required for matrix integrity and overall cartilage stability. PMID:23939426

  14. Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita

    PubMed Central

    Beier, Fabian; Foronda, Miguel; Martinez, Paula; Blasco, Maria A.

    2014-01-01

    TRF1 is part of the shelterin complex, which binds telomeres and it is essential for their protection. Ablation of TRF1 induces sister telomere fusions and aberrant numbers of telomeric signals associated with telomere fragility. Dyskeratosis congenita is characterized by a mucocutaneous triad, bone marrow failure (BMF), and presence of short telomeres because of mutations in telomerase. A subset of patients, however, show mutations in the shelterin component TIN2, a TRF1-interacting protein, presenting a more severe phenotype and presence of very short telomeres despite normal telomerase activity. Allelic variations in TRF1 have been found associated with BMF. To address a possible role for TRF1 dysfunction in BMF, here we generated a mouse model with conditional TRF1 deletion in the hematopoietic system. Chronic TRF1 deletion results in increased DNA damage and cellular senescence, but not increased apoptosis, in BM progenitor cells, leading to severe aplasia. Importantly, increased compensatory proliferation of BM stem cells is associated with rapid telomere shortening and further increase in senescent cells in vivo, providing a mechanism for the very short telomeres of human patients with mutations in the shelterin TIN2. Together, these results represent proof of principle that mutations in TRF1 lead to the main clinical features of BMF. PMID:22932806

  15. An isolated inflammatory myofibroblastic tumor of adrenal gland.

    PubMed

    Al Sannaa, Ghadah; Wimmer, Jana L; Ayala, Alberto G; Ro, Jae Y

    2016-12-01

    Inflammatory myofibroblastic tumor (IMT) is an uncommon lesion that shows a wide range of anatomic distribution. The adrenal gland, however, is a distinctly rare site of occurrence. To date, only a few cases of IMT arising in the adrenal gland have been reported in the English literature. Here, we report another case of isolated adrenal IMT. A 34-year-old man presented to the emergency department with a complaint of a sudden severe right-sided back pain. Subsequent computed tomographic scan imaging studies demonstrated a large right adrenal mass associated with a hematoma. The right adrenal gland was resected. Microscopic examination revealed an encapsulated cellular spindle cell proliferation with a prominent inflammatory infiltrate. Immunohistochemically, those spindle cells were diffusely and strongly positive for anaplastic lymphoma kinase-1, and focally and weakly positive for smooth muscle actin. S-100 protein and cytokeratin were negative. The findings were consistent with IMT arising from the adrenal gland. Although IMTs in the adrenal gland are rare, they should be considered in the differential diagnosis of adrenal masses. The clinical behavior of IMTs in general is currently indeterminate and a close clinical follow-up is recommended. The behavior of adrenal IMTs remains uncertain because of rare reported cases and lack of long-term follow-up. Further follow-up of reported cases and recognition of additional new cases is warranted to unmask the true biological behavior of adrenal IMTs.

  16. Adrenal gland hemorrhage in patients with fatal bacterial infections.

    PubMed

    Guarner, Jeannette; Paddock, Christopher D; Bartlett, Jeanine; Zaki, Sherif R

    2008-09-01

    A wide spectrum of adrenal gland pathology is seen during bacterial infections. Hemorrhage is particularly associated with meningococcemia, while abscesses have been described with several neonatal infections. We studied adrenal gland histopathology of 65 patients with bacterial infections documented in a variety of tissues by using immunohistochemistry. The infections diagnosed included Neisseria meningitidies, group A streptococcus, Rickettsia rickettsii, Streptococcus pneumoniae, Staphylococcus aureus, Ehrlichia sp., Bacillus anthracis, Leptospira sp., Clostridium sp., Klebsiella sp., Legionella sp., Yersinia pestis, and Treponema pallidum. Bacteria were detected in the adrenal of 40 (61%) cases. Adrenal hemorrhage was present in 39 (60%) cases. Bacteria or bacterial antigens were observed in 31 (79%) of the cases with adrenal hemorrhage including 14 with N. meningitidis, four with R. rickettsii, four with S. pneumoniae, three with group A streptococcus, two with S. aureus, two with B. anthracis, one with T. pallidum, and one with Legionella sp. Bacterial antigens were observed in nine of 26 non-hemorrhagic adrenal glands that showed inflammatory foci (four cases), edema (two cases), congestion (two cases), or necrosis (one case). Hemorrhage is the most frequent adrenal gland pathology observed in fatal bacterial infections. Bacteria and bacterial antigens are frequently seen in adrenal glands with hemorrhage and may play a pathogenic role. Although N. meningitidis is the most frequent bacteria associated with adrenal gland pathology, a broad collection of bacteria can also cause adrenal lesions.

  17. Adrenal regeneration hypertension prevented by thyroidectomy: a quantitative ultrastructural study of the regenerating adrenal cortex.

    PubMed Central

    Conran, R. M.; Nickerson, P. A.

    1980-01-01

    Thyroparathyroidectomy (TPX) prevents adrenal regeneration hypertension (ARH) in female rats and concomitantly inhibits regeneration of the adrenal cortex. Removal of the thyroid gland plays the major role in preventing ARH inasmuch as parathyroidectomized adrenal-enucleated (PX-AE) rats became hypertensive, whereas thyroparathyroidectomized adrenal-enucleated rats (TPX-AE + PT) did not. Inhibition of adrenocortical regneration by TPX is reflected by a significant decrease in adrenal weight, volume of cortical parenchymal tissue per gland, and average cell volume at three weeks, compared with the regenerating adrenal gland in adrenal-enucleated thyroid-parathyroid-intact (AE) rats. Mitochondria in TPX-AE rats resembled closely those from zona fasciculata cells of a normal adrenal gland; stereologic techniques for electron microscopic examination confirmed that mitochondrial volume/cell and surface area of total mitochondrial membranes/cell (outer/inner membranes plus cristae) of adrenocortical cells from TPX-AE rats did not differ significantly from those of AE animals. The surface area of mitochondrial cristae of TPX-AE rats, however, was significantly greater than that of AE rats, whereas the surface area of the inner/outer mitochondrial membrane of the TPX-AE group was decreased significantly as compared with that of the AE group. The diameter of mitochondria in TPX-AE rats was larger than in the AE group, although the number of mitochondria/cell was significantly less in TPX-AE rats than in AE rats. Although TPX had no significant effect on the levels of DOC or corticosterone in the serum of quiescent AE rats as compared with TPX-AE rats, the rise in DOC in the serum after ether stress was blunted in the TPX-AE group as compared with that in the AE group. The rise in corticosterone in the TPX-AE group was comparable to that of the AE animals. Thus, partial inhibition of adrenal regeneration in TPX-AE rats in combination with a blunted rise in DOC levels in

  18. Extreme redundancy of the valve of the fossa ovalis with right heart hypoplasia in a neonate with trisomy 18.

    PubMed

    Vyas, Himeshkumar; Cabalka, Allison K

    2006-10-01

    Infants with trisomy 18 often have important cardiovascular malformations. We describe an infant with trisomy 18 who had extreme redundancy of the flap valve of the fossa ovalis along with right heart hypoplasia.

  19. Congenital adrenal hyperplasia with cholestatic jaundice.

    PubMed

    Ali, Nisreen Feroz; Zafar, Farhana; Bangash, Areeb Sohail; Malik, Abdul; Mohammedi, Karimunnisa

    2014-01-01

    Congenital Adrenal Hyperplasia describes a group of autosomal recessive disorders characterized by a decrease in Cortisol production. 11 beta hydroxylase deficiencies is the second most common form. However, its presentation with cholestatic jaundice is extremely rare. We present a case of a 29-day-old infant who came to us with unusual dark complexion, persistent jaundice, and electrolyte imbalance. On investigation he was diagnosed as a case of congenital adrenal hyperplasia. Treatment with hydrocortisone and fludrocortisone cleared his jaundice and complexion with subsequent improvement in electrolytes. The aim of this report is to illustrate an unusual presentation of CAH with Cholestatic jaundice. This is the first case to be reported from Pakistan. The case outlines the difficult workup that was encountered in the diagnosis and management of the patient.

  20. Cushing syndrome associated with an adrenal tumour

    PubMed Central

    Vieira, Helena; Brain, Caroline

    2012-01-01

    Cushing syndrome (CS) in children is a rare disorder that is most frequently caused by an adrenal tumour or a pituitary corticotrophin-secreting adenoma. The management is challenging and requires an individualised approach and multidisciplinary care. We present the case of a 23-month-old female child with a history of excessive weight gain, growth failure, hirsutism, acne and behavioural difficulties. Investigations revealed elevated serum midnight cortisol and 24 h urinary free cortisol. Overnight dexamethasone suppression testing showed no suppression of cortisol levels. Abdominal imaging revealed a right-sided suprarenal mass. She underwent right adrenalectomy and the histology showed an adrenal cortical carcinoma. There was clinical improvement with catch-up growth and weight normalisation. Despite being rare in clinical practice, in a child with weight gain, hirsuitism and growth failure the diagnosis must be considered. The overall prognosis of CS in childhood is good, but challenges remain to ensure normal growth and body composition. PMID:22927284

  1. The hypothalamic-pituitary-adrenal axis.

    PubMed

    Feek, C M; Marante, D J; Edwards, C R

    1983-11-01

    Anterior pituitary corticotrophin cells secrete ACTH as part of a larger precursor molecule, pro-opiomelanocortin. Post-translational cleavage of this precursor yields three major peptides: ACTH, beta-LPH and N-POMC. Experiments both in vivo and in vitro suggest that N-POMC may act as a prohormone amplifier for ACTH-induced adrenal steroidogenesis and as regulator of adrenocortical cell growth. The secretion of POMC is under the control of CRF. These findings are discussed in relation to the pathophysiology of corticotrophinoma. The primary defect in this condition appears to reside at the level of the anterior pituitary cell and is readily amenable to treatment by trans-sphenoidal microsurgery. The estimation of plasma ACTH concentrations is proving useful in the monitoring of various clinical conditions including Addison's disease and congenital adrenal hyperplasia.

  2. Cushing syndrome associated with an adrenal tumour.

    PubMed

    Vieira, Helena; Brain, Caroline

    2012-08-27

    Cushing syndrome (CS) in children is a rare disorder that is most frequently caused by an adrenal tumour or a pituitary corticotrophin-secreting adenoma. The management is challenging and requires an individualised approach and multidisciplinary care. We present the case of a 23-month-old female child with a history of excessive weight gain, growth failure, hirsutism, acne and behavioural difficulties. Investigations revealed elevated serum midnight cortisol and 24 h urinary free cortisol. Overnight dexamethasone suppression testing showed no suppression of cortisol levels. Abdominal imaging revealed a right-sided suprarenal mass. She underwent right adrenalectomy and the histology showed an adrenal cortical carcinoma. There was clinical improvement with catch-up growth and weight normalisation. Despite being rare in clinical practice, in a child with weight gain, hirsuitism and growth failure the diagnosis must be considered. The overall prognosis of CS in childhood is good, but challenges remain to ensure normal growth and body composition.

  3. Functional ectopic adrenal carcinoma in a dog.

    PubMed

    Taylor, Jim A; Lee, Maris S; Nicholson, Matthew E; Justin, Robert B

    2014-09-01

    An 11-year-old spayed female pit bull terrier was presented with a 2-month history of polyuria, polydipsia, polyphagia, and panting. Serum chemistry, blood and urine analysis, and tests for hyperadrenocorticism suggested an adrenal tumor. Abdominal ultrasound identified a mass caudal to the right kidney. The mass was completely excised and histopathology was consistent with endocrine carcinoma. Three years later there was no evidence of recurrence or metastasis.

  4. Adrenal Metastasis from Uterine Papillary Serous Carcinoma

    PubMed Central

    Lubana, Sandeep Singh; Singh, Navdeep; Tuli, Sandeep S.; Seligman, Barbara

    2016-01-01

    Patient: Female, 60 Final Diagnosis: UPSC with adrenal metastasis Symptoms: Post menopausal bleeding Medication: — Clinical Procedure: Adrenalectomy Specialty: Oncology Objective: Rare disease Background: Uterine papillary serous carcinoma (UPSC) is a highly malignant form of endometrial cancer with a high propensity for metastases and recurrences even when there is minimal or no myometrial invasion. It usually metastasizes to the pelvis, retroperitoneal lymph nodes, upper abdomen, and peritoneum. However, adrenal metastases from UPSC is extremely rare. Here, we present a case of UPSC with adrenal metastasis that occurred 6 years after the initial diagnosis. Case Report: A 60-year-old woman previously diagnosed with uterine papillary serous carcinoma at an outside facility presented in September of 2006 with postmenopausal bleeding. She underwent comprehensive surgical staging with FIGO (International Federation of Gynecology and Obstetrics) stage 2. Post-operatively, the patient was treated with radiation and chemotherapy. The treatment was completed in April of 2007. The patient had no evidence of disease until July 2009 when she was found to have a mass highly suspicious for malignancy. Subsequently, she underwent right upper lobectomy. The morphology of the carcinoma was consistent with UPSC. She refused chemotherapy due to a previous history of chemotherapy-induced neuropathy. The patient was followed up with regular computed tomography (CT) scans. In October 2012 a new right adrenal nodule was seen on CT, which showed intense metabolic uptake on positron emission tomography (PET)/CT scan. The patient underwent right adrenalectomy. Pathology of the surgical specimen was consistent with UPSC. Conclusions: UPSC is an aggressive variant of endometrial cancer associated with high recurrence rate and poor prognoses. Long-term follow-up is needed because there is a possibility of late metastases, as in this case. PMID:27117594

  5. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    PubMed

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

  6. Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.

    PubMed

    Brockmann, Knut; Backes, Heiko; Auber, Bernd; Kriebel, Thomas; Stellmer, Franziska; Zoll, Barbara

    2009-12-01

    The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.

  7. Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt).

    PubMed

    Sawada, Kazuhiko; Saito, Shigeyoshi; Sugasawa, Akari; Sato, Chika; Aoyama, Junya; Ohara, Naoko; Horiuchi-Hirose, Miwa; Kobayashi, Tetsuya

    2016-07-01

    Growth-retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)-based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito-temporal regions, which were demarcated by structural landmarks on coronal CT images. A region-specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in grt/grt mice rather than in both heterozygous (grt/+) and wild-type (+/+) mice. We concluded that the cortical hypoplasia in grt/grt was seen in identical cortical regions corresponding to human congenital hypothyroidism.

  8. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?

    PubMed

    Patel, Millan S; Becker, Laurence E; Toi, Ants; Armstrong, Dawna L; Chitayat, David

    2006-03-15

    We present three siblings with a precise onset of fetal seizure-like activity who had severe olivopontocerebellar hypoplasia (OPCH) and degeneration. Autopsies at 20, 27, and 37 weeks gestation showed diffuse central nervous system volume loss that was most marked for the cerebellum and brain stem structures. Neuropathological abnormalities included dysplastic, C-shaped inferior olivary nuclei, absent or immature dentate nuclei, and cell paucity more marked for the cerebellar vermis than the hemispheres. Delayed development was seen in layer 2 of the cerebral cortex and in Purkinje cells of the cerebellum. Prenatal monitoring defined a developmental window of 16-18 weeks gestation when ultrasonic assessment of cerebellar width was used for prenatal diagnosis. We discuss our findings in the context of the differential diagnosis for infantile (O)PCH and propose a classification scheme for the pontocerebellar hypoplasias. These patients represent the earliest reported with OPCH and provide unique information regarding the developmental neuropathology of this condition.

  9. Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

    PubMed

    Yano, S; Oda, K; Watanabe, Y; Watanabe, S; Matsuishi, T; Kojima, K; Abe, T; Kato, H

    1998-08-06

    Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

  10. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

    PubMed Central

    Hoveyda, N.; Shield, J.; Garrett, C.; Chong, W; Beardsall, K.; Bentsi-Enchill, E.; Mallya, H.; Thompson, M.

    1999-01-01

    Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.


Keywords: cerebellar agenesis/hypoplasia; neonatal diabetes mellitus; dysmorphic features; autosomal recessive PMID:10507728

  11. Hypoplasia of the left portal vein territory of the human liver: a case study.

    PubMed Central

    Cho, Yong-Hyun; Murakami, Gen; Lee, Moo Sam; Song, Chang Ho; Han, Eui-Hyeog; Jin, Zhe-Wu; Cho, Baik-Hwan

    2003-01-01

    Although reports of hypoplasia or absence of the liver of left lobe are not few, descriptions of the intrahepatic vessels are rare but valuable for discussion of the pathogenesis. The present report demonstrates a case of the left surgical lobe hypoplasia that is characterized by 1) the scar-like lobe with few parenchymal tissue and dilated bile ducts, 2) no Spiegel's lobe with the portal vein stuck to the inferior vena cava, 3) unusual configurations of the right hepatic vein and the 8th segmental portal vein branch, 4) the hepatic groove on S8, and 5) the trifurcation pattern of the portal vein primary division. According to the macroscopic and histological observations, we hypothesized that the secondary abnormal peritoneal fusion occurred in utero and/or during the postnatal growth, and that it involved the left portal vein and other adjacent structures, resulting in severe atrophy of the left surgical lobe. PMID:14676439

  12. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

    PubMed

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  13. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

    PubMed

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony

    2013-12-01

    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.

  14. [A Case of Synchronous Malignant Pheochromocytomas in Bilateral Adrenal Glands].

    PubMed

    Usui, Kimitsugu; Hirasawa, Terukazu; Kobayashi, Masataka; Shioi, Kouichi; Kobayashi, Kazuki; Sakai, Naoki; Noguchi, Sumio; Tsuura, Yukio

    2016-06-01

    We present a case of synchronous malignant pheochromocytoma in bilateral adrenal glands. A 73- year-old man presented to our hospital with bilateral adrenal masses incidentally found during abdominal ultrasonography examination for an unrelated issue. The patient had a 30-year history of hypertension and paroxysmal atrial fibrillation. Computed tomography and magnetic resonance imaging showed heterogeneous tumors in bilateral adrenal glands and an enlarged para-aortic lymph node. Hormonal examinations revealed a high value of urinary catecholamines. Metaiodobenzylguanidine (MIBG) scintigraphy showed increased uptake in bilateral adrenal glands and the lymph node. Both adrenal tumors and the node were surgically removed. Pathological examination revealed histologically distinct tissue between the two adrenal tumors. The patient received five cycles of adjuvant chemotherapy, consisting of cyclophosphamide, vincristine, and dacarbazine. The patient has been in remission for 32 months following surgical treatment.

  15. Adrenal Diagnostics: An Endocrinologist’s Perspective focused on Hyperaldosteronism

    PubMed Central

    Fuller, Peter J

    2013-01-01

    The era of sophisticated high resolution imaging with the consequent identification of previously unrecognised adrenal masses (adrenal incidentalomas), has emphasised the need for an appropriate biochemical approach to define adrenal function. The focus of this testing is on catecholamines from the adrenal medulla (testing that has been rendered relatively straightforward by plasma metanephrine measurements) and the physiological corticosteroids, cortisol and aldosterone, synthesised by the adrenal cortex. The diagnosis of hypercortisolism remains a challenge and has been extensively reviewed. In the context of hypertension and an adrenal incidentaloma, the exclusion of hyperaldosteronism has an importance beyond simple blood pressure control. This review focuses on the recommended approaches to both the diagnosis of hyperaldosteronism and the characterisation of its aetiology. Monogenetic causes of mineralocorticoid hypertension are discussed as are recent developments with respect to both the molecular aetiology and the differential diagnosis of aldosterone-producing adenomas. PMID:24353356

  16. [Primary hyperaldosteronism due to unilateral adrenal hyperplasia with surgical resolution].

    PubMed

    Rubio-Puchol, O; Garzón-Pastor, S; Salom-Vendrell, C; Hernández-Mijares, A

    Unilateral adrenal hyperplasia is a rare cause of primary hyperaldosteronism (around a 3%) that has surgical treatment. A case of a patient with hypertension resistant to conventional therapy in treatment with 7 drugs who presented with primary hyperaldosteronism due to unilateral adrenal hyperplasia is presented. A left adrenalectomy was performed, and the patient had a good clinical response, with no need of any drug after 2 years of surgery. Unilateral adrenal hyperplasia is a different entity and it is not an asymmetric variant of the bilateral adrenal hyperplasia. In the study of patients with primary hyperaldosteronism and imaging tests with absence of adenoma is a diagnosis that must be considered before cataloguing patients with bilateral adrenal hyperplasia and start a medical treatment, because unilateral adrenal hyperplasia would have a surgical resolution.

  17. Multivectorial, external halo-assisted midface distraction in patients with severe hypoplasia.

    PubMed

    Malagon, Hector Hidalgo; Romo, Gabriela Wong; Quintero Mosqueda, Francisco Rafael; Magaña, Fernando Gonzalez

    2008-11-01

    Osteogenesis distraction is an increasingly used technique for the correction of facial deformities because it offers a faster and more controlled growth of the hypoplasic bone along with the elongation of the soft tissues. In this article, we describe the technique and our experience in midface distraction using an external multivectoral distraction device (BLUE Device; W. Lorenz, Jacksonville, FL) and custom-made midface osteotomies for the correction of severe hypoplasia.

  18. Alaninuria, Associated with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus in Two Sisters

    PubMed Central

    Stimmler, L.; Jensen, N.; Toseland, P.

    1970-01-01

    Two sisters, both microcephalic at birth and of low birthweight, are described. They are both severely mentally retarded and dwarfed, and have developed diabetes mellitus. Their teeth show enamel hypoplasia. Excessive quantities of alanine were found in their urine, which was associated with high levels of alanine pyruvate and lactate in the blood. ImagesFIG. 1FIG. 2FIG. 3aFIG. 3b PMID:5477682

  19. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.

    PubMed

    Young, Marielle P; Sawyer, Briana L; Hartnett, M Elizabeth

    2014-04-01

    Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

  20. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

    PubMed

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-03-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

  1. Atlas hypoplasia associated with non-traumatic retro-odontoid mass.

    PubMed

    Sato, Kazufumi; Kubota, Toshihiko; Takeuchi, Hiroaki; Handa, Yuji

    2006-04-01

    A 38-year-old man presented with progressive cervical myelopathy due to atlas hypoplasia associated with non-traumatic retro-odontoid mass. The neuroimaging findings suggested hypertrophy of the transverse ligament of the atlas. No histological confirmation of the retro-odontoid mass was obtained. Clinical manifestations improved after posterior decompression. Decompressive laminectomy of the atlas with or without fusion can achieve a good outcome in such cases.

  2. [Unilateral pulmonary artery agenesis with ipsilateral pulmonary hypoplasia as incidental finding in an asthmatic patient].

    PubMed

    Contreras-Arias, Catalina; Duarte, Diana; Ramírez, Luis F; Serrano, Carlos D

    2014-01-01

    Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unusual finding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  3. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

    PubMed Central

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-01-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation. PMID:23942204

  4. THE NUMBER OF CATECHOLAMINE STORAGE GRANULES IN ADRENAL MEDULLA

    DTIC Science & Technology

    A method is described for counting the catecholamine-containing heavy granules of adrenal glands. There are 5.0 ! 0.8 (S. E.) x 10 to the 12th power... granules /gram wet weight of fowl adrenal gland. Individual heavy granules contain about 8 million molecules of catecholamines (1.4 x 10 to the 17th...power mole). Reference to published electron microphotographs of adrenal medulla cells allows estimation of the average volume of heavy granules and

  5. Adrenal incidentalomas: are they being worked up appropriately?

    PubMed Central

    Sahni, Pooja; Trivedi, Apoorva; Omer, Abdulkadir; Trivedi, Nitin

    2016-01-01

    Introduction Adrenal incidentalomas are defined as masses picked up on imaging studies that were done for apparently different reasons. With frequent use of imaging modalities, incidental adrenal masses are commonly encountered in clinical practice. Guidelines are currently available for the diagnosis and management of adrenal incidentalomas, but the appropriateness of initial work-up and subsequent follow-up of incidental adrenal masses in the community hospital setting is unknown. Objective We studied the appropriateness of initial work-up and follow-up of incidental adrenal masses discovered on abdominal computerized tomography (CT). Methods In our retrospective study, we reviewed sequential CT scans of the abdomen performed in the month of January 2010 at a community hospital. Once patients with one or more adrenal masses were identified, outpatient charts for initial biochemical testing and follow-up imaging were obtained either through directly accessing the electronic medical records or through contacting primary care physician's offices. Patient charts were reviewed to assess the data for the next 2 years following the discovery of an adrenal abnormality. Results Twenty adrenal masses were incidentally discovered on 723 abdominal CTs performed within the month of January 2010 resulting in an overall incidence of 2.76%. Of the patients with incidentally discovered adrenal masses, appropriate biochemical and follow-up imaging were only performed in patients referred to an endocrinologist (2 of 20 patients). Thirty percent of patients with incidental masses received a repeat CT scan for non-adrenal reasons, and no change in the mass size was noted. Conclusion Despite published guidelines, the initial work-up and follow-up of patients with an incidentally discovered adrenal mass is unsatisfactory. There is a desperate need for education of providers regarding appropriate work-up of incidental adrenal masses. PMID:27802863

  6. Effects of ethnicity and birth month on localized enamel hypoplasia of the primary canine.

    PubMed

    Skinner, M F; Hadaway, W; Dickie, J

    1994-01-01

    Localized enamel hypoplasia of the primary canine (LHPC) is produced by a different mechanism from that causing linear enamel hypoplasia, and yet contributes disproportionately to epidemiological studies of enamel hypoplasia in childhood that do not separate the two etiological types. LHPC results from impact, probably self-inflicted by infants mouthing objects, to the unerupted primary canine crown through abnormally fenestrated cortical bone overlying the crypt. Examination of the primary teeth of ninety-six children whose mothers were enrolled in the Healthiest Babies Possible Program in Vancouver showed an average prevalence of 31 percent with LHPC (ranging from 19 percent in Vietnamese Canadians to 56 percent among Indocanadians). This is much higher than previously reported for unselected samples from Vancouver, but equivalent to studies in the USA. Mean hours of sunshine in the birth month of children with LHPC is 141.7 hours and those without is 169.4 hours; the difference is statistically significant (p = .0383). Seasonal increase in food costs and reduced availability of fresh foods containing vitamin A are thought to contribute to facial osteopenia predisposing the infant to LHPC.

  7. Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia.

    PubMed

    Poncelet, Luc; Héraud, Céline; Springinsfeld, Marie; Ando, Kunie; Kabova, Anna; Beineke, Andreas; Peeters, Dominique; Op De Beeck, Anne; Brion, Jean-Pierre

    2013-06-01

    Parvoviruses depend on initiation of host cell division for their replication. Undefined parvoviral proteins have been detected in Purkinje cells of the cerebellum after experimental feline panleukopenia virus (FPV) infection of neonatal kittens and in naturally occurring cases of feline cerebellar hypoplasia. In this study, a parvoviral protein in the nucleus of Purkinje cells of kittens with cerebellar hypoplasia was shown by immunoprecipitation to be the FPV viral capsid protein VP2. In PCR-confirmed, FPV-associated feline cerebellar hypoplasia, expression of the FPV VP2 protein was demonstrated by immunohistochemistry in Purkinje cell nuclei in 4/10 cases and expression of the FPV non-structural protein NS1 was demonstrated in Purkinje cell nuclei in 5/10 cases. Increased nuclear ERK1 expression was observed in several Purkinje cells in 1/10 kittens. No expression of the G1 and S mitotic phase marker proliferating cell nuclear antigen (PCNA) was evident in Purkinje cell nuclei. These results support the hypothesis that FPV is able to proceed far into its replication cycle in post-mitotic Purkinje cells.

  8. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    PubMed

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  9. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

    PubMed

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien

    2013-05-01

    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus.

  10. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    PubMed

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  11. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

    PubMed

    Bostwick, Bret; Fang, Ping; Patel, Ankita; Sutton, V Reid

    2016-03-01

    Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medical history data unexpectedly revealed that the majority of patients (87%) had undergone tonsillectomy for obstructive sleep apnea, which exposed an important co-morbidity that is not well described in the literature, but managing physicians should be made aware of. Fifteen of the 18 patients underwent molecular sequencing of PORCN to detect heterozygous or mosaic mutations. Where no mutation was detected, we performed exon-targeted chromosomal microarray to evaluate for large deletions of the PORCN gene region. We detected a pathogenic genotype in 14 of 15 patients, including one novel chromosomal deletion and four novel PORCN sequence variants. Here, we provide phenotypic summary analysis of 18 patients with focal dermal hypoplasia and propose clinical diagnostic criteria.

  12. Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia.

    PubMed

    Fyfe, John C; Al-Tamimi, Raba' A; Castellani, Rudy J; Rosenstein, Diana; Goldowitz, Daniel; Henthorn, Paula S

    2010-09-15

    Neuroaxonal dystrophy in brainstem, spinal cord tracts, and spinal nerves accompanied by cerebellar hypoplasia was observed in a colony of laboratory dogs. Fetal akinesia was documented by ultrasonographic examination. At birth, affected puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central nervous system was apparent grossly, most strikingly as underdeveloped cerebellum and spinal cord. Histopathologic abnormalities included swollen axons and spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, patchy loss of Purkinje cells, multifocal thinning of the external granular cell layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of myelinated axons in spinal roots and peripheral nerves; increased myocyte apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation around joints. Breeding studies demonstrated that the canine disorder is a fully penetrant, simple autosomal recessive trait. The disorder demonstrated a type and distribution of lesions homologous to that of human infantile neuroaxonal dystrophy (INAD), most commonly caused by mutations of phospholipase A2 group VI gene (PLA2G6), but alleles of informative markers flanking the canine PLA2G6 locus did not associate with the canine disorder. Thus, fetal-onset neuroaxonal dystrophy in dogs, a species with well-developed genome mapping resources, provides a unique opportunity for additional disease gene discovery and understanding of this pathology.

  13. Isolated adrenal masses in nonsmall-cell bronchogenic carcinoma

    SciTech Connect

    Oliver, T.W. Jr.; Bernardino, M.E.; Miller, J.I.; Mansour, K.; Greene, D.; Davis, W.A.

    1984-10-01

    Computed tomography has become an important diagnostic modality in the preoperative staging of patients with bronchogenic carcinoma. The adrenal glands represent one of the most frequent sites of metastasis. Therefore, an isolated adrenal mass discovered on preoperative thoracoabdominal CT poses a diagnostic problem. Three hundred thirty patients with histologically proved nonsmall-cell bronchogenic carcinoma were evaluated. Thirty-two had adrenal masses without further evidence of disease in the abdomen, Eight of these 32 masses were metastases, 17 were proved adenomas, and 7 did not undergo biopsy. Thus an isolated adrenal mass is more likely benign than metastatic, and biopsy is advocated prior to withholding potentially curative surgery.

  14. [Morphometry in Development of Red Deer's Adrenal Glands].

    PubMed

    Ovcharenko, N D; Gribanova, O G; Bondyreva, L A

    2015-01-01

    Histological structures and morphometric and some histochemical indicators of elk's adrenal gland development as subspecies of red deer in prenatal and postnatal ontogenies stages was studied. It was found that the growth of the fetus adrenal glands weight and the thickness of the structures adrenal glands fragments continue throughout the prenatal period of ontogeny. The cells of androgenic zone with single wandering sympathogoniae are differentiated in the adrenal glands in the second month of development. The androgenic and definite zone and the adrenal medulla are differentiated by the third month of development. At the 4 months, adrenal gland cortex zona glomerulosa and zona fasciculate-reticularis are differentiated; zona reticularis is differentiated only by the seventh month. By the eighth month, the structure of adrenal glands corresponds to the adrenal glands of a newborn. Full structural formation of the adrenal glands takes place in young animals by age 1.5. Obvious structural changes were not found late in the postnatal stages of development.

  15. Partial adrenalectomy in patients with multiple adrenal tumors.

    PubMed

    Pavlovich, C P; Linehan, W M; Walther, M M

    2001-02-01

    Most adrenal tumors are found incidentally and appear as small solitary nodules on abdominal imaging. Occasionally, work-up demonstrates multifocal or bilateral adrenal tumors. Certain patients are predisposed to multiple lesions, such as those with hereditary forms of pheochromocytoma as seen in von Hippel-Lindau disease, multiple endocrine neoplasia type II, and von Recklinghausen's disease. Partial rather than total adrenalectomy should be considered for these patients in an attempt to preserve endogenous adrenocortical function. Partial adrenalectomy has also been used to resect other types of adrenal tumors, especially in patients with a solitary adrenal gland. A discussion of the indications for partial adrenalectomy and of the surgical technique follows.

  16. The clinical manifestations, diagnosis, and treatment of adrenal emergencies.

    PubMed

    Tucci, Veronica; Sokari, Telematé

    2014-05-01

    Emergency medicine physicians should be able to identify and treat patients whose clinical presentations, including key historical, physical examination, and laboratory findings are consistent with diagnoses of primary, secondary, and tertiary adrenal insufficiency, adrenal crisis, and pheochromocytoma. Failure to make a timely diagnosis leads to increased morbidity and mortality. As great mimickers, adrenal emergencies often present with a constellation of nonspecific signs and symptoms that can lead even the most diligent emergency physician astray. The emergency physician must include adrenal emergencies in the differential diagnosis when encountering such clinical pictures.

  17. Rifampicin induced adrenal crisis in an uncommon setting

    PubMed Central

    Ray, Animesh; Suri, J. C.; Gupta, Mansi

    2013-01-01

    Adrenal crisis occurs when there is decreased secretions of steroid hormones (mainly cortisol) from the adrenal glands due to varied reasons. It may arise due to a primary adrenal condition or due to decreased hormonal signals from the pituitary secondary to a hypofunctioning pituitary. Hypopituitarism may result due to direct causes like trauma, tumour, infection or it may be due to some vascular insult as seen in Sheehan syndrome. We report an unusual presentation of Sheehan syndrome in the form of life-threatening adrenal crisis precipitated by the usage of rifampicin. PMID:24339502

  18. Mainly adrenal gland involving NK/T-cell nasal type lymphoma diagnosed with delay due to mimicking adrenal hemorrhage.

    PubMed

    Kang, Seon Mee; Kim, Woong Ji; Lee, Kyung Ae; Baek, Hong Sun; Park, Tae Sun; Jin, Heung Yong

    2011-10-01

    A 29-yr-old man, presented with abdominal pain and fever, had an initial computed tomography (CT) scan revealing low attenuation of both adrenal glands. The initial concern was for tuberculous adrenalitis or autoimmune adrenalitis combined with adrenal hemorrhage. The patient started empirical anti-tuberculous medication, but there was no improvement. Enlargement of cervical lymph nodes were developed after that and excisional biopsy of cervical lymph nodes was performed. Pathological finding of excised lymph nodes was compatible to NK/T-cell lymphoma. The patient died due to the progression of the disease even after undergoing therapeutic trials including chemotherapy. Lymphoma mainly involving adrenal gland in the early stage of the disease is rare and the vast majority of cases that have been reported were of B-cell origin. From this case it is suggested that extra-nodal NK/T-cell lymphoma should be considered as a cause of bilateral adrenal masses although it is rare.

  19. Contralateral adrenal metastasis from renal cell carcinoma with tumor thrombus in the adrenal vein: a case report

    PubMed Central

    Muśko, Natalia; Kozikowski, Mieszko; Nyk, Łukasz; Borówka, Andrzej; Dobruch, Jakub

    2015-01-01

    A 64-year-old woman presented with contralateral right adrenal metastasis with adrenal vein thrombus, which was diagnosed many years after left nephrectomy with adrenalectomy due to renal cell cancer. The patient underwent right adrenalectomy with adrenal vein tumor thrombectomy for treatment. The pathologic examination confirmed metastatic clear cell carcinoma. The remote but existing risk of developing contralateral adrenal metastasis (CAM) after primary radical nephrectomy supports the idea of sparing the adrenal gland in suitable patients who undergo radical nephrectomy. Contralateral adrenal metastasis from RCC is a rare finding with the potential benefit of cure after resection. Care must be taken in preoperative diagnostics, as this metastasis is capable of causing inferior vena cava tumor thrombus via the suprarenal venous route. According to our knowledge, our case is the second similar entity described in literature so far. PMID:26807301

  20. Adrenal-preserving minimally invasive surgery: the role of laparoscopic partial adrenalectomy, cryosurgery, and radiofrequency ablation of the adrenal gland.

    PubMed

    Munver, Ravi; Del Pizzo, Joseph J; Sosa, R Ernest

    2003-02-01

    Adrenalectomy has become the standard of care for the management of hormonally active adrenal masses. Various surgical therapies have been proposed to excise completely or destroy these adrenal lesions, which may be benign or malignant. New minimally invasive, adrenal-sparing procedures have recently been introduced, among them laparoscopic partial adrenalectomy, cryosurgery, and radiofrequency ablation. These procedures focus on reducing patient morbidity and hastening postoperative recovery while preserving normal adrenal tissue. However, questions remain about the risks and benefits associated with routine application of minimally invasive therapies for adrenal-sparing surgery in terms of complete tumor extirpation. Clearly, more experience and longer follow-up is necessary to validate these procedures. Herein we describe the surgical techniques and early results of treatment with adrenal-sparing surgery.

  1. Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with hGH

    MedlinePlus

    ... Disease Resource List Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with hGH ... People lacking this hormone are at risk of death from adrenal crisis, but adrenal crisis can be ...

  2. Normal adrenal function in an infant following a pregnancy complicated by maternal adrenal cortical carcinoma and mitotane exposure.

    PubMed

    Kojori, Fatemeh; Cronin, Catherine M G; Salamon, Elizabeth; Burym, Craig; Sellers, Elizabeth Ann Cameron

    2011-01-01

    Maternal adrenal cortical carcinoma in pregnancy is rare. We report a case of an infant born to a mother with a history of adrenal cortical carcinoma. The pregnancy was complicated by fetal exposure to mitotane and dexamethasone. Despite the potential teratogenic exposures, there was no evidence of adrenal dysfunction in the infant. Growth and development at 12 months of age are normal and prognosis appears favorable. The long-term impact of fetal exposure to mitotane and glucocorticoid requires further investigation.

  3. Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Deifuss muscular dystrophy and dyskeratosis congenita

    SciTech Connect

    Metzenberg, A.B.; Pan, Y.; Das, S.; Gitschier, J. ); Pai, G.S. )

    1994-05-01

    Mapping studies have indicated that over two dozen genetic diseases lie on Xq28, the distal long arm of the X chromosome. In most cases the responsible gene has not yet been isolated. Most of these diseases occur at low frequency, and together with small family sizes and the lack of associated cytogenetic aberrations, this characteristic has made isolation of the genes difficult. Identification of the genes responsible for inherited disorders should eventually lead to a greater understanding of biochemical and developmental pathways. We and others are attempting to find these genes by examining genes that are candidates by virtue of their map location. One candidate is the Xq28-linked gene MPP-1, which encodes the p55 protein. In this study, we asked whether mutations in the p55 gene are present in patients affected with the Xq28-linked disorders dyskeratosis congenita and Emergy-Dreifuss muscular dystrophy. The p55 cDNA is [approx]2 kb in length. The strategy for mutation detection in this sequence involved reverse transciption (RT)-PCR amplification of patient and control cDNA, yielding five sets of overlapping fragments, each set consisting of 400 bp, followed by SSCP analysis of each fragment. In no case was a true mutation in the p55 gene discovered. Therefore, it is highly unlikely that mutations in the p55 gene are responsible for any cases of dyskeratosis congenita or Emergy-Dreifuss muscular dystrophy.

  4. Adrenal clocks and the role of adrenal hormones in the regulation of circadian physiology.

    PubMed

    Leliavski, Alexei; Dumbell, Rebecca; Ott, Volker; Oster, Henrik

    2015-02-01

    The mammalian circadian timing system consists of a master pacemaker in the suprachiasmatic nucleus (SCN) and subordinate clocks that disseminate time information to various central and peripheral tissues. While the function of the SCN in circadian rhythm regulation has been extensively studied, we still have limited understanding of how peripheral tissue clock function contributes to the regulation of physiological processes. The adrenal gland plays a special role in this context as adrenal hormones show strong circadian secretion rhythms affecting downstream physiological processes. At the same time, they have been shown to affect clock gene expression in various other tissues, thus mediating systemic entrainment to external zeitgebers and promoting internal circadian alignment. In this review, we discuss the function of circadian clocks in the adrenal gland, how they are reset by the SCN and may further relay time-of-day information to other tissues. Focusing on glucocorticoids, we conclude by outlining the impact of adrenal rhythm disruption on neuropsychiatric, metabolic, immune, and malignant disorders.

  5. Apparent diffusion coefficient of normal adrenal glands*

    PubMed Central

    Teixeira, Sara Reis; Elias, Paula Condé Lamparelli; Leite, Andrea Farias de Melo; de Oliveira, Tatiane Mendes Gonçalves; Muglia, Valdair Francisco; Elias Junior, Jorge

    2016-01-01

    Objective To assess the feasibility and reliability of apparent diffusion coefficient (ADC) measurements of normal adrenal glands. Materials and methods This was a retrospective study involving 32 healthy subjects, divided into two groups: prepubertal (PreP, n = 12), aged from 2 months to 12.5 years (4 males; 8 females); and postpubertal (PostP, n = 20), aged from 11.9 to 61 years (5 males; 15 females). Diffusion-weighted magnetic resonance imaging (DW-MRI) sequences were acquired at a 1.5 T scanner using b values of 0, 20, 500, and 1000 s/mm2. Two radiologists evaluated the images. ADC values were measured pixel-by-pixel on DW-MRI scans, and automatic co-registration with the ADC map was obtained. Results Mean ADC values for the right adrenal glands were 1.44 × 10-3 mm2/s for the PreP group and 1.23 × 10-3 mm2/s for the PostP group, whereas they were 1.58 × 10-3 mm2/s and 1.32 × 10-3 mm2/s, respectively, for the left glands. ADC values were higher in the PreP group than in the PostP group (p < 0.05). Agreement between readers was almost perfect (intraclass correlation coefficient, 0.84-0.94; p < 0.05). Conclusion Our results demonstrate the feasibility and reliability of performing DW-MRI measurements of normal adrenal glands. They could also support the feasibility of ADC measurements of small structures. PMID:28057963

  6. Spontaneous Massive Adrenal Hemorrhage: A Management Dilemma

    PubMed Central

    Agarwal, Anshuman

    2015-01-01

    Abstract Adrenal hemorrhage (AH) is a rare but life-threatening condition. Small focal hemorrhage may present subclinically, but massive hemorrhage may lead to rapid cardiovascular collapse and ultimately death if not diagnosed appropriately and treated quickly. Most cases reported in the literature have been treated conservatively. In an event of increasing hemorrhage during conservative management, it may be tricky to intervene surgically because of the hematoma around the gland. Here we describe a case where we managed a large spontaneous AH by a combination of angioembolization and laparoscopic adrenalectomy. PMID:27579389

  7. Serotonin involvement in pituitary-adrenal function

    NASA Technical Reports Server (NTRS)

    Vernikos-Danellis, J.; Kellar, K. J.; Kent, D.; Gonzales, C.; Berger, P. A.; Barchas, J. D.

    1977-01-01

    Experiments clarifying the effects of serotonin (5-HT) in the regulation of the hypothalamic-pituitary-adrenocortical system are surveyed. Lesion experiments which seek to determine functional maps of serotonergic input to areas involved in regulation are reported. Investigations of the effects of 5-HT levels on the plasma ACTH response to stress and the diurnal variation in basal plasma corticosterone are summarized, and the question of whether serotonergic transmission is involved in the regulation of all aspects of pituitary-adrenal function is considered with attention to the stimulatory and inhibitory action of 5-HT.

  8. A Case of Adrenal Lymphangiectatic Cyst Associated with Severe Hypertension

    PubMed Central

    Yang, Ha Young; Lee, Jun Ho; Lee, Hye Ran; Choi, Chan Ok; Park, Jang Pil; Jin, Tae Sun; Lee, Sung Yoon

    1990-01-01

    Adrenal lymphangiectatic cyst is a very rare pathological and clinical disease entity, and its clinical silence and lack of characteristic symptoms and signs makes it difficult to diagnose preoperatively. We experienced a case of adrenal lymphangiectatic cyst, accompanied by severe refractory hypertension, which was corrected by surgical removal of the cyst. We reprot it with a review of the literature. PMID:2098094

  9. Bilateral Cystic Adrenal Neuroblastoma with Cystic Liver metastasis

    PubMed Central

    Aslan, Mine; Kalyoncu, Ayse Ucar; Habibi, Hatice Arioz; Ozdemir, Gul Nihal; Koc, Basak; Adaletli, Ibrahim

    2017-01-01

    Bilateral congenital cystic adrenal neuroblastoma (NB) with cystic liver metastasis is a very rare condition and only few cases have been reported in the literature. Herein we report a case of a congenital bilateral cystic adrenal NB with cystic liver metastasis and briefly discuss characteristic imaging features of cystic NB. PMID:28163998

  10. Adrenal incidentaloma in thalassemia: a case report and literature review.

    PubMed

    Gamberini, Maria Rita; Prandini, Napoleone; Chiodi, Elisabetta; Farneti, Carlotta; Garani, Maria Chiara

    2011-03-01

    In the last 30 years the development and widespread use of modern imaging techniques has caused a 20-time increase in the diagnosis of adrenal incidentaloma (AI). Among AIs myelolipoma (ML) is reported with a frequency up to 10%. In the literature 8 patients with adrenal masses in thalassaemia or chronic haemolytic anaemia have been reported: five cases were shown to have extramedullary haematopoiesis (EH) and 3 ML. We describe here a case of an adult male affected by beta thalassaemia intermedia and large bilateral lipomatous adrenal masses. The patient was referred to our ward at the age of 55 and underwent hormonal testing, MRI, and SPECT/CT scans. Adrenal masses were hormonally inactive, and fat-containing on MRI and CT scans. SPECT/CT examination with 99mTccolloid demonstrated the presence of marrow tissue. ML and EH are the only two tumours with marrow tissue among lipomatous adrenal masses. In our patient a brown nodular mass was resected and histologically classified as ML. In benign adrenal masses, radiological follow-up is indicated; in case of large bilateral masses adrenal function tests are suggested periodically in order to detect possible adrenal hypofunction.

  11. Incidence and Cause of Hypertension During Adrenal Radiofrequency Ablation

    SciTech Connect

    Yamakado, Koichiro Takaki, Haruyuki; Yamada, Tomomi; Yamanaka, Takashi; Uraki, Junji; Kashima, Masataka; Nakatsuka, Atsuhiro; Takeda, Kan

    2012-12-15

    Purpose: To evaluate the incidence and cause of hypertension prospectively during adrenal radiofrequency ablation (RFA). Methods: For this study, approved by our institutional review board, written informed consent was obtained from all patients. Patients who received RFA for adrenal tumors (adrenal ablation) and other abdominal tumors (nonadrenal ablation) were included in this prospective study. Blood pressure was monitored during RFA. Serum adrenal hormone levels including epinephrine, norepinephrine, dopamine, and cortisol levels were measured before and during RFA. The respective incidences of procedural hypertension (systolic blood pressure >200 mmHg) of the two patient groups were compared. Factors correlating with procedural systolic blood pressure were evaluated by regression analysis.ResultsNine patients underwent adrenal RFA and another 9 patients liver (n = 5) and renal (n = 4) RFA. Asymptomatic procedural hypertension that returned to the baseline by injecting calcium blocker was found in 7 (38.9%) of 18 patients. The incidence of procedural hypertension was significantly higher in the adrenal ablation group (66.7%, 6/9) than in the nonadrenal ablation group (11.1%, 1/9, P < 0.0498). Procedural systolic blood pressure was significantly correlated with serum epinephrine (R{sup 2} = 0.68, P < 0.0001) and norepinephrine (R{sup 2} = 0.72, P < 0.0001) levels during RFA. The other adrenal hormones did not show correlation with procedural systolic blood pressure. Conclusion: Hypertension occurs frequently during adrenal RFA because of the release of catecholamine.

  12. Adrenal hemorrhage complicating ACTH therapy in Crohn's disease.

    PubMed

    Levin, T L; Morton, E

    1993-01-01

    Huge dose ACTH therapy is used in some severely ill patients with inflammatory bowel disease. We report a teenage girl with Crohn's disease who developed an acute abdomen following ACTH therapy. CT revealed the mass to be a hemorrhagic adrenal gland; the opposite adrenal gland was hypertrophied but without signs of hemorrhage.

  13. Is There Such a Thing as Adrenal Fatigue?

    MedlinePlus

    ... it? Is there such a thing as adrenal fatigue? Answers from Todd B. Nippoldt, M.D. Adrenal fatigue is a term applied to a collection of nonspecific symptoms, such as body aches, fatigue, nervousness, sleep disturbances and digestive problems. The term ...

  14. Primary hyperaldosteronism: comparison of CT, adrenal venography, and venous sampling

    SciTech Connect

    Geisinger, M.A.; Zelch, M.G.; Bravo, E.L.; Risius, B.F.; O'Donovan, P.B.; Borkowski, G.P.

    1983-08-01

    Twenty-nine patients with primary hyperaldosteronism were evaluated with computed tomography (CT), adrenal venous sampling, and adrenal venography. Twenty-three patients had aldosteronomas and six had bilateral adrenocortical hyperplasia. Sixteen (70%) of the adenomas were accurately located by CT. All nodules of 1.5 cm or larger diameter and 50% of nodules 1.0 to 1.4 cm in diameter were demonstrated. Nodules of less than 1.0 cm in diameter generally were not detected. High-resolution CT appeared more sensitive than standard CT (75% vs 58%). Adrenal venous sampling for aldosterone assay was the most sensitive of the three methods, localizing 22 (96%) of the 23 adenomas. Eighteen (78%) of the adenomas were identified by adrenal venography, although two patients with bilateral cortical hyperplasia were mistakenly diagnosed as having a small adenoma. No such false-positive studies were encountered with CT or adrenal venous sampling.

  15. Stereotactic body radiation therapy for metastasis to the adrenal glands.

    PubMed

    Shiue, Kevin; Song, Andrew; Teh, Bin S; Ellis, Rodney J; Yao, Min; Mayr, Nina A; Huang, Zhibin; Sohn, Jason; Machtay, Mitchell; Lo, Simon S

    2012-12-01

    Many primary cancers can metastasize to the adrenal glands. Adrenalectomy via an open or laparoscopic approach is the current definitive treatment, but not all patients are eligible or wish to undergo surgery. There are only limited studies on the use of conventional radiation therapy for palliation of symptoms from adrenal metastasis. However, the advent of stereotactic body radiation therapy (SBRT) - also named stereotactic ablative radiotherapy for primary lung cancer, metastases to the lung, and metastases to the liver - have prompted some investigators to consider the use of SBRT for metastases to the adrenal glands. This review focuses on the emerging data on SBRT of metastasis to the adrenal glands, while also providing a brief discussion of the overall management of adrenal metastasis.

  16. Adrenal insufficiency presenting as bilateral rigid auricles: a case report

    PubMed Central

    2014-01-01

    Introduction Stiff ears appear to be a warning sign for adrenal insufficiency. This remarkable and rare sign has not been described to present in adrenal insufficiency in the setting of critical care. Case presentation We present the case of a 68-year-old Caucasian male who underwent a thymoma resection and suffered from preoperative weight loss and lack of strength. The perioperative phase was characterised by hypotension and sputum stasis due to muscle weakness, which caused two readmissions to the intensive care unit. His physical examination showed two fully rigid auricles. In retrospect, our patient suffered from secondary adrenal insufficiency and hypogonadism. Conclusions The bilateral rigid auricles appeared to be a warning sign for adrenal insufficiency. This remarkable sign is easily checked, and should prompt a higher index of suspicion towards adrenal insufficiency and other hormonal deficiencies. PMID:25209544

  17. Neural control of adrenal medullary and cortical blood flow during hemorrhage

    SciTech Connect

    Breslow, M.J.; Jordan, D.A.; Thellman, S.T.; Traystman, R.J.

    1987-03-01

    Hemorrhagic hypotension produces an increase in adrenal medullary blood flow and a decrease in adrenal cortical blood flow. To determine whether changes in adrenal blood flow during hemorrhage are neurally mediated, the authors compared blood flow responses following adrenal denervation (splanchnic nerve section) with changes in the contralateral, neurally intact adrenal. Carbonized microspheres labeled with /sup 153/Gd, /sup 114/In, /sup 113/Sn, /sup 103/Ru, /sup 95/Nb or /sup 46/Se were used. Blood pressure was reduced and maintained at 60 mmHg for 25 min by hemorrhage into a pressurized bottle system. Adrenal cortical blood flow decreased to 50% of control with hemorrhage in both the intact and denervated adrenal. Adrenal medullary blood flow increased to four times control levels at 15 and 25 min posthemorrhage in the intact adrenal, but was reduced to 50% of control at 3, 5, and 10 min posthemorrhage in the denervated adrenal. In a separate group of dogs, the greater splanchnic nerve on one side was electrically stimulated at 2, 5, or 15 Hz for 40 min. Adrenal medullary blood flow increased 5- to 10-fold in the stimulated adrenal but was unchanged in the contralateral, nonstimulated adrenal. Adrenal cortical blood flow was not affected by nerve stimulation. They conclude that activity of the splanchnic nerve profoundly affects adrenal medullary vessels but not adrenal cortical vessels and mediates the observed increase in adrenal medullary blood flow during hemorrhagic hypotension.

  18. PRENATAL AND NEONATAL VARIABLES ASSOCIATED WITH ENAMEL HYPOPLASIA IN DECIDUOUS TEETH IN LOW BIRTH WEIGHT PRETERM INFANTS

    PubMed Central

    Franco, Kátia Maria Dmytraczenko; Line, Sérgio Roberto Peres; de Moura-Ribeiro, Maria Valeriana Leme

    2007-01-01

    This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW) and a matched control group of term children with normal birth weight (NBW). The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP). FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE), 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result. PMID:19089191

  19. Ultrasonographic measurements of adrenal glands in cats with hyperthyroidism.

    PubMed

    Combes, Anaïs; Vandermeulen, Eva; Duchateau, Luc; Peremans, Kathelijne; Daminet, Sylvie; Saunders, Jimmy

    2012-01-01

    Feline hyperthyroidism is potentially associated with exaggerated responsiveness of the adrenal gland cortex. The adrenal glands of 23 hyperthyroid cats were examined ultrasonographically and compared to the adrenal glands of 30 control cats. Ten hyperthyroid cats had received antithyroid drugs until 2 weeks before sonography, the other 13 were untreated. There was no difference in adrenal gland shape between healthy and hyperthyroid cats: bean-shaped, well-defined, hypoechoic structures surrounded by a hyperechoic halo in 43/60 (71.6%) healthy cats and 34/46 (73.9%) hyperthyroid cats; more ovoid in 13/60 (21.6%) healthy cats and 9/46 (19.6%) hyperthyroid cats while more elongated in 4/60 (6.7%) healthy cats, 3/46 (6.5%) hyperthyroid cats. Hyperechoic foci were present in 9/23 (39.1%) hyperthyroid cats and 2/30 (6.7%) healthy cats. The adrenal glands were significantly larger in hyperthyroid cats, although there was overlap in size range. The mean difference between hyperthyroid cats and healthy cats was 1.6 and 1.7 mm in left and right adrenal gland length, 0.8 and 0.9 mm in left and right cranial adrenal gland height, and 0.4 and 0.9 mm in left and right caudal adrenal gland height. There was no significant difference between the adrenal gland measurements in treated and untreated hyperthyroid cats. The adrenomegaly was most likely associated with the hypersecretion of the adrenal cortex documented in hyperthyroid cats. Hyperthyroidism should be an alternative to hyperadrenocorticism, hyperaldosteronism, and acromegaly in cats with bilateral moderate adrenomegaly.

  20. Inhaled nitric oxide for preterm premature rupture of membranes, oligohydramnios, and pulmonary hypoplasia.

    PubMed

    Chock, Valerie Y; Van Meurs, Krisa P; Hintz, Susan R; Ehrenkranz, Richard A; Lemons, James A; Kendrick, Douglas E; Stevenson, David K

    2009-04-01

    We sought to determine if inhaled nitric oxide (iNO) administered to preterm infants with premature rupture of membranes (PPROM), oligohydramnios, and pulmonary hypoplasia improved oxygenation, survival, or other clinical outcomes. Data were analyzed from infants with suspected pulmonary hypoplasia, oligohydramnios, and PPROM enrolled in the National Institute of Child Health and Development Neonatal Research Network Preemie Inhaled Nitric Oxide (PiNO) trial, where patients were randomized to receive placebo (oxygen) or iNO at 5 to 10 ppm. Outcome variables assessed were PaO (2) response, mortality, bronchopulmonary dysplasia (BPD), and severe intraventricular hemorrhage (IVH) or periventricular leukomalacia (PVL). Twelve of 449 infants in the PiNO trial met criteria. Six infants received iNO and six received placebo. The iNO group had a mean increase in PaO (2) of 39 +/- 50 mm Hg versus a mean decrease of 11 +/- 15 mm Hg in the control group. Mortality was 33% versus 67%, BPD (2/5) 40% versus (2/2) 100%, and severe IVH or PVL (1/5) 20% versus (1/2) 50% in the iNO and control groups, respectively. None of these changes were statistically significant. Review of a limited number of cases from a large multicenter trial suggests that iNO use in the setting of PPROM, oligohydramnios, and suspected pulmonary hypoplasia improves oxygenation and may decrease the rate of BPD and death without increasing severe IVH or PVL. However, the small sample size precludes definitive conclusions. Further studies are required to determine if iNO is of benefit in this specific patient population.

  1. Acute adrenal insufficiency secondary to bilateral adrenal B-cell lymphoma: a case report and review of the literature

    PubMed Central

    De Miguel Sánchez, Carlos; Ruiz, Luis; González, Jose Luis; Hernández, Jose Luis

    2016-01-01

    Primary adrenal lymphoma is an extremely rare entity which constitutes less than 1% of extranodal lymphomas. Most cases present with bilateral adrenal masses and without extraadrenal involvement, which can lead to symptoms of adrenal insufficiency. The prognosis is usually poor and chemotherapy is the first-line treatment option. We report here on a 78-year-old man admitted to our Internal Medicine Department because of constitutional symptoms and high fever spikes. He was diagnosed with adrenal insufficiency and a CT-scan revealed bilateral adrenal masses of about 6 cm in diameter. A percutaneous biopsy was performed and the histological exam was consistent with diffuse large B cell lymphoma. A review of the literature of this unusual entity was also carried out. PMID:27170834

  2. [Aplasia and hypoplasia of the side of the nose in the Mocha Period and today].

    PubMed

    Pirsig, W

    1989-01-01

    In earthenware vessels from the Moche period (200-700 A.D.) pathological findings of nasal deformities have been depicted in a realistic manner. By means of two recent casuistics and of two portrait vessels of Old Peru it is demonstrated how exactly the nasal pathology was observed by the artists of the Moche period. The first example shows a unilateral hypoplasia of the nasal ala due to injury in early childhood, the second example shows a bilateral aplasia of the nasal alae due to an intrauterine growth disturbance.

  3. Kingella kingae endocarditis in a child with hair-cartilage hypoplasia.

    PubMed

    Ferber, B; Bruckheimer, E; Schlesinger, Y; Berger, I; Glaser, J; Olsha, O; Branski, D; Kerem, E

    1997-01-01

    Abstract. Kingella kingae is a fastidious Gram-negative rod that since the 1980s has been appreciated as a cause of a variety of human infections, including bone and joint infections, bacteremia, and rarely endocarditis [2, 6, 7, 9]. K. kingae endocarditis is rare, and only a few cases occur in normal, native valves. We report a case of K. kingae endocarditis in a patient with hair-cartilage hypoplasia who had previously undergone bone marrow transplantation. The combination of these rare conditions is discussed.

  4. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius).

    PubMed

    Armién, A G; McRuer, D L; Ruder, M G; Wünschmann, A

    2013-01-01

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.

  5. Imaging diagnosis--celiacomesenteric trunk and portal vein hypoplasia in a pit bull terrier.

    PubMed

    Ricciardi, Mario; Martino, Rosmara; Assad, Eyad Abu

    2014-01-01

    The computed tomography (CT) imaging findings of a celiacomesenteric trunk (CMT) in a 1-year-old dog with primary hypoplasia of the portal vein (PHPV) are described. Computed tomography angiography revealed acquired porto-systemic shunts secondary to portal hypertension and a common origin of the celiac and cranial mesenteric arteries. The imaging findings and the association of a CMT with other vascular diseases have never been reported in dogs. The recognition of this rare arterial anomaly should prompt to investigate possible concurrent vascular diseases and may influence the planning of abdominal surgeries.

  6. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    PubMed

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

  7. Limb hypoplasia resulting from intrauterine infection with herpes simplex virus: a case report.

    PubMed

    Carola, D; Skibo, M; Cannon, S; Cam, K M; Hyde, P; Aghai, Z H

    2014-11-01

    Intrauterine infection with herpes simplex virus, although very rare, has devastating effects on multiple organ systems in the fetus and can lead to in utero fetal demise. Neonates born following intrauterine herpes simplex virus infection commonly manifest with cutaneous lesions, ocular damage and/or brain abnormalities. We describe the case of a dichorionic, diamniotic twin gestation complicated by intrauterine herpes simplex virus infection. This infection led to the fetal demise of twin A and a very uncommon presentation of limb hypoplasia in twin B.

  8. Transgenic Expression of Ad4BP/SF-1 in Fetal Adrenal Progenitor Cells Leads to Ectopic Adrenal Formation

    PubMed Central

    Zubair, Mohamad; Oka, Sanae; Parker, Keith L.; Morohashi, Ken-ichirou

    2009-01-01

    Deficiency of adrenal 4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1; NR5A1) impairs adrenal development in a dose-dependent manner, whereas overexpression of Ad4BP/SF-1 is associated with adrenocortical tumorigenesis. Despite its essential roles in adrenal development, the mechanism(s) by which Ad4BP/SF-1 regulates this process remain incompletely understood. We previously identified a fetal adrenal enhancer (FAdE) that stimulates Ad4BP/SF-1 expression in the fetal adrenal gland by a two-step mechanism in which homeobox proteins initiate Ad4BP/SF-1 expression, which then maintains FAdE activity in an autoregulatory loop. In the present study, we examined the effect of transgenic expression of Ad4BP/SF-1 controlled by FAdE on adrenal development. When Ad4BP/SF-1 was overexpressed using a FAdE-Ad4BP/SF-1 transgene, FAdE activity expanded outside of its normal field, resulting in increased adrenal size and the formation of ectopic adrenal tissue in the thorax. The increased size of the adrenal gland did not result from a corresponding increase in cell proliferation, suggesting rather that the increased levels of Ad4BP/SF-1 may divert uncommitted precursors to the steroidogenic lineage. The effects of FAdE-controlled Ad4BP/SF-1 overexpression in mice provide a novel model of ectopic adrenal formation that further supports the critical role of Ad4BP/SF-1 in the determination of steroidogenic cell fate in vivo. PMID:19628584

  9. Relationship of A1 segment hypoplasia to anterior communicating artery aneurysm morphology and risk factors for aneurysm formation.

    PubMed

    Rinaldo, Lorenzo; McCutcheon, Brandon A; Murphy, Meghan E; Bydon, Mohamad; Rabinstein, Alejandro A; Lanzino, Giuseppe

    2016-09-30

    OBJECTIVE Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery (ACoA) aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood. METHODS Digital subtraction angiography images were reviewed for 204 patients presenting to the authors' institution with either a ruptured or an unruptured ACoA aneurysm. The ratio of the width of the larger A1 segment to the smaller A1 segment was calculated. Patients with an A1 ratio greater than 2 were categorized as having A1 segment hypoplasia. The relationship of A1 segment hypoplasia to both patient and aneurysm characteristics was then assessed. RESULTS Of 204 patients that presented with an ACoA aneurysm, 34 (16.7%) were found to have a hypoplastic A1. Patients with A1 segment hypoplasia were less likely to have a history of smoking (44.1% vs 62.9%, p = 0.0410). ACoA aneurysms occurring in the setting of a hypoplastic A1 were also found to have a larger maximum diameter (mean 7.7 vs 6.0 mm, p = 0.0084). When considered as a continuous variable, increasing A1 ratio was associated with decreasing aneurysm dome-to-neck ratio (p = 0.0289). There was no significant difference in the prevalence of A1 segment hypoplasia between ruptured and unruptured aneurysms (18.9% vs 10.7%; p = 0.1605). CONCLUSIONS Our results suggest that a hypoplastic A1 may affect the morphology of ACoA aneurysms. In addition, the relative lack of traditional risk factors for aneurysm formation in patients with A1 segment hypoplasia argues for the importance of hemodynamic factors in the formation of ACoA aneurysms in this anatomical setting.

  10. Adrenal insufficiency presenting as hypercalcemia and acute kidney injury

    PubMed Central

    Ahn, Seung Won; Kim, Tong Yoon; Lee, Sangmin; Jeong, Jeong Yeon; Shim, Hojoon; Han, Yu min; Choi, Kyu Eun; Shin, Seok Joon; Yoon, Hye Eun

    2016-01-01

    Adrenal insufficiency is an uncommon cause of hypercalcemia and not easily considered as an etiology of adrenal insufficiency in clinical practice, as not all cases of adrenal insufficiency manifest as hypercalcemia. We report a case of secondary adrenal insufficiency presenting as hypercalcemia and acute kidney injury in a 66-year-old female. The patient was admitted to the emergency department with general weakness and poor oral intake. Hypercalcemia (11.5 mg/dL) and moderate renal dysfunction (serum creatinine 4.9 mg/dL) were shown in her initial laboratory findings. Studies for malignancy and hyperparathyroidism showed negative results. Basal cortisol and adrenocorticotropic hormone levels and adrenocorticotropic hormone stimulation test confirmed the diagnosis of adrenal insufficiency. With the administration of oral hydrocortisone, hypercalcemia was dramatically resolved within 3 days. This case shows that adrenal insufficiency may manifest as hypercalcemia and acute kidney injury, which implicates that adrenal insufficiency should be considered a cause of hypercalcemia in clinical practice. PMID:27536162

  11. Pendrin localizes to the adrenal medulla and modulates catecholamine release.

    PubMed

    Lazo-Fernandez, Yoskaly; Aguilera, Greti; Pham, Truyen D; Park, Annie Y; Beierwaltes, William H; Sutliff, Roy L; Verlander, Jill W; Pacak, Karel; Osunkoya, Adeboye O; Ellis, Carla L; Kim, Young Hee; Shipley, Gregory L; Wynne, Brandi M; Hoover, Robert S; Sen, Shurjo K; Plotsky, Paul M; Wall, Susan M

    2015-09-15

    Pendrin (Slc26a4) is a Cl(-)/HCO3 (-) exchanger expressed in renal intercalated cells and mediates renal Cl(-) absorption. With pendrin gene ablation, blood pressure and vascular volume fall, which increases plasma renin concentration. However, serum aldosterone does not significantly increase in pendrin-null mice, suggesting that pendrin regulates adrenal zona glomerulosa aldosterone production. Therefore, we examined pendrin expression in the adrenal gland using PCR, immunoblots, and immunohistochemistry. Pendrin protein was detected in adrenal lysates from wild-type but not pendrin-null mice. However, immunohistochemistry and qPCR of microdissected adrenal zones showed that pendrin was expressed in the adrenal medulla, rather than in cortex. Within the adrenal medulla, pendrin localizes to both epinephrine- and norepinephrine-producing chromaffin cells. Therefore, we examined plasma catecholamine concentration and blood pressure in wild-type and pendrin-null mice under basal conditions and then after 5 and 20 min of immobilization stress. Under basal conditions, blood pressure was lower in the mutant than in the wild-type mice, although epinephrine and norepinephrine concentrations were similar. Catecholamine concentration and blood pressure increased markedly in both groups with stress. With 20 min of immobilization stress, epinephrine and norepinephrine concentrations increased more in pendrin-null than in wild-type mice, although stress produced a similar increase in blood pressure in both groups. We conclude that pendrin is expressed in the adrenal medulla, where it blunts stress-induced catecholamine release.

  12. Pendrin localizes to the adrenal medulla and modulates catecholamine release

    PubMed Central

    Lazo-Fernandez, Yoskaly; Aguilera, Greti; Pham, Truyen D.; Park, Annie Y.; Beierwaltes, William H.; Sutliff, Roy L.; Verlander, Jill W.; Pacak, Karel; Osunkoya, Adeboye O.; Ellis, Carla L.; Kim, Young Hee; Shipley, Gregory L.; Wynne, Brandi M.; Hoover, Robert S.; Sen, Shurjo K.; Plotsky, Paul M.

    2015-01-01

    Pendrin (Slc26a4) is a Cl−/HCO3− exchanger expressed in renal intercalated cells and mediates renal Cl− absorption. With pendrin gene ablation, blood pressure and vascular volume fall, which increases plasma renin concentration. However, serum aldosterone does not significantly increase in pendrin-null mice, suggesting that pendrin regulates adrenal zona glomerulosa aldosterone production. Therefore, we examined pendrin expression in the adrenal gland using PCR, immunoblots, and immunohistochemistry. Pendrin protein was detected in adrenal lysates from wild-type but not pendrin-null mice. However, immunohistochemistry and qPCR of microdissected adrenal zones showed that pendrin was expressed in the adrenal medulla, rather than in cortex. Within the adrenal medulla, pendrin localizes to both epinephrine- and norepinephrine-producing chromaffin cells. Therefore, we examined plasma catecholamine concentration and blood pressure in wild-type and pendrin-null mice under basal conditions and then after 5 and 20 min of immobilization stress. Under basal conditions, blood pressure was lower in the mutant than in the wild-type mice, although epinephrine and norepinephrine concentrations were similar. Catecholamine concentration and blood pressure increased markedly in both groups with stress. With 20 min of immobilization stress, epinephrine and norepinephrine concentrations increased more in pendrin-null than in wild-type mice, although stress produced a similar increase in blood pressure in both groups. We conclude that pendrin is expressed in the adrenal medulla, where it blunts stress-induced catecholamine release. PMID:26173457

  13. Accuracy of imaging parameters in the prediction of lethal pulmonary hypoplasia secondary to mid-trimester prelabor rupture of fetal membranes: a systematic review and meta-analysis.

    PubMed

    van Teeffelen, A S P; Van Der Heijden, J; Oei, S G; Porath, M M; Willekes, C; Opmeer, B; Mol, B W J

    2012-05-01

    In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia.

  14. Bilateral adrenal masses: a single-centre experience

    PubMed Central

    Bandgar, Tushar; Khare, Shruti; Jadhav, Swati; Lila, Anurag; Goroshi, Manjunath; Kasaliwal, Rajeev; Khadilkar, Kranti; Shah, Nalini S

    2016-01-01

    Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015). Results The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (P<0.001). The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54%) and abdominal pain (29%), whereas tuberculosis presented with adrenal insufficiency (AI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies. PMID:27037294

  15. Adrenal pseudomasses due to varices: angiographic-CT-MRI-pathologic correlations

    SciTech Connect

    Brady, T.M.; Gross, B.H.; Glazer, G.M. Williams, D.M.

    1985-08-01

    Periadrenal and adrenal portosystemic collaterals are a recently reported cause of adrenal pseudotumor on computed tomography (CT). Nine patients with this left adrenal pseudotumor illustrate its typical position and appearance on CT, angiography, CT-angiography, and magnetic resonance imaging (MRI). The anatomic basis for variceal adrenal pseudotumors is the left inferior phrenic vein, which passes immediately anterior to the left adrenal gland and which serves as a collateral pathway from splenic to left renal vein in portal hypertension. Thus, unlike previously described adrenal pseudotumors, these venous collaterals are not anatomically distinguishable from the adrenal gland on CT. Bolus dynamic CT is usually diagnostic, but in equivocal cases, MRI may prove useful.

  16. Restoration of incisal half with edge-up technique using ceramic partial crown in turner's hypoplasia: A case report

    PubMed Central

    Hegde, Shreya; Kundabala, M

    2014-01-01

    This case report describes a rare treatment modality for Turner's hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner's hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement. PMID:24554869

  17. Adrenal Function Status in Patients with Paracoccidioidomycosis after Prolonged Post-Therapy Follow-Up

    PubMed Central

    Tobón, Angela M.; Agudelo, Carlos A.; Restrepo, Carlos A.; Villa, Carlos A.; Quiceno, William; Estrada, Santiago; Restrepo, Angela

    2010-01-01

    This study assessed adrenal function in patients with paracoccididioidomycosis who had been treated to determine a possible connection between high antibody titers and adrenal dysfunction attributable to persistence of the fungus in adrenal gland. Adrenal gland function was studied in 28 previously treated patients, 2 (7.1%) of whom were shown to have adrenal insufficiency and 7 (259%) who showed a below normal response to stimuli by adrenocorticotropic hormone. Paracoccidioides brasiliensis was detected in the adrenal gland from one of the patients with adrenal insufficiency. Although the study failed to demonstrate a significant difference between high antibody titers and low cortisol levels, the proportion of adrenal insufficiency detected and the subnormal response to adrenocorticotropic hormone confirmed that adrenal damage is an important sequela of paracoccidioidomycosis. Studies with a larger number of patients should be conducted to confirm the hypothesis of persistence of P. brasiliensis in adrenal gland after therapy. PMID:20595488

  18. Localization of functional adrenal tumors by computed tomography and venous sampling

    SciTech Connect

    Dunnick, N.R.; Doppman, J.L.; Gill, J.R. Jr.; Strott, C.A.; Keiser, H.R.; Brennan, M.F.

    1982-02-01

    Fifty-eight patients with functional lesions of the adrenal glands underwent radiographic evaluation. Twenty-eight patients had primary aldosteronism (Conn syndrome), 20 had Cushing syndrome, and 10 had pheochromocytoma. Computed tomography (CT) correctly identified adrenal tumors in 11 (61%) of 18 patients with aldosteronomas, 6 of 6 patients with benign cortisol-producing adrenal tumors, and 5 (83%) of 6 patients with pheochromocytomas. No false-positive diagnoses were encountered among patients with adrenal adenomas. Bilateral adrenal hyperplasia appeared on CT scans as normal or prominent adrenal glands with a normal configuration; however, CT was not able to exclude the presence of small adenomas. Adrenal venous sampling was correct in each case, and reliably distinguished adrenal tumors from hyperplasia. Recurrent pheochromocytomas were the most difficult to loclize on CT due to the surgical changes in the region of the adrenals and the frequent extra-adrenal locations.

  19. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report

    PubMed Central

    Khadir, Mohammed Abdul; Narayana, Ganesh; Nayar, Pradeep G

    2016-01-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future. PMID:28208970

  20. Portal hypertension associated with primary hypoplasia of the hepatic portal vein in dogs.

    PubMed

    Van den Ingh, T S; Rothuizen, J; Meyer, H P

    1995-10-21

    Portal hypertension caused by primary hypoplasia of the portal vein was diagnosed in 42 dogs. The portal hypertension was manifested by the presence of multiple portosystemic collateral vessels. The main clinical signs were retarded growth or weight loss, apathy, intermittent diarrhoea and vomiting, anorexia, abdominal distension and polydipsia. Major findings at physical examination were ascites in 23 dogs and neurological signs in 16 dogs. The dogs had increased activities of liver enzymes in plasma and increased fasting levels of total bile acids and ammonia; in many of the dogs the packed red cell volume, total serum protein and albumin were low. Gross inspection of the portal vein revealed a patent but underdeveloped extrahepatic vein in 13 of the dogs. Microscopic examination of the liver revealed hypoplasia of the intrahepatic portal veins in all the dogs, and this was associated with minor arteriolar proliferation and absence of fibrosis in 12 of them, with moderate to marked arteriolar proliferation often combined with ductular proliferation in 13, and with marked portal fibrosis (formerly described as hepatoportal fibrosis) with a varying number of arteriolar and bile ductular structures in 17 of the dogs. The disease affected mainly young dogs, and was most likely to have been of congenital origin.

  1. Hypoplasia-associated severe early childhood caries--a proposed definition.

    PubMed

    Caufield, P W; Li, Y; Bromage, T G

    2012-06-01

    We propose a new classification of severe early childhood caries (S-ECC): hypoplasia-associated severe early childhood caries (HAS-ECC). This form of caries affects mostly young children living at or below poverty, characterized by structurally damaged primary teeth that are particularly vulnerable to dental caries. These predisposing developmental dental defects are mainly permutations of enamel hypoplasia (EHP). Anthropologists and dental researchers consider EHP an indicator for infant and maternal stresses including malnutrition, a variety of illnesses, and adverse birthing conditions. Differentiation of HAS-ECC from other forms of early childhood caries is warranted because of its distinct etiology, clinical presentation, and eventual management. Defining HAS-ECC has important clinical implications: Therapies that control or prevent other types of caries are likely to be less effective with HAS-ECC because the structural integrity of the teeth is compromised prior to their emergence into the oral cavity. By the time these children present to the dentist, the treatment options often become limited to surgical management under general anesthesia. To prevent HAS-ECC, dentists must partner with other health providers to develop interventions that begin with pregnant mothers, with the aim of eliminating or ameliorating the covariates accompanying poverty, including better pre- and post-natal care and nutrition.

  2. Soft palate hypoplasia and concurrent middle ear pathology in six dogs.

    PubMed

    White, R N; Hawkins, H L; Alemi, V P; Warner, C

    2009-07-01

    This retrospective clinical study describes six consecutive cases of bilateral hypoplasia/malformation of the soft palate in dogs in which associated middle ear disease was investigated and the palatine defects were surgical repaired. Radiographic abnormalities of the tympanic bullae were seen in both ears of all six dogs (12 of 12). Negative tympanocentesis findings were recorded in 11 of 12 ears. A purulent otitis media was confirmed in one ear of one dog, and loss of hearing was also demonstrated in this ear on brainstem auditory evoked response hearing assessment. There was no evidence of hearing loss on brainstem auditory evoked response in any of the remaining ears. Surgical repair of the soft palate defect was undertaken in all six dogs. Long-term assessment of the clinical outcome was considered excellent in five dogs and reasonable in one dog (mean 18 months, range seven to 27 months). It would appear that surgical intervention for the treatment of bilateral palatine malformation/hypoplasia may be associated with a better prognosis than reported previously. The lack of middle ear effusion and associated hearing impairment suggests that the underlying aetiology of middle ear pathology in dogs suffering from congenital palatine defects may be different from that observed in human beings. The true nature of the radiographic bullae changes seen in dogs with soft palate defects remains unclear.

  3. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report.

    PubMed

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G

    2016-12-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  4. Intense Adrenal Enhancement: A CT Feature of Cardiogenic Shock

    SciTech Connect

    Hrabak-Paar, Maja

    2016-02-15

    In this report, images of intense adrenal enhancement in a 79-year-old female patient with right-sided heart failure and severe tricuspid insufficiency are presented. Only two cases of intense adrenal enhancement as a sign of cardiogenic shock were previously reported in the literature. Intense adrenal enhancement could be one of the earliest CT signs of cardiogenic shock. Its presence should be immediately reported to the referring physician as a sign of significant hemodynamic instability warranting early critical-care management.

  5. Non-functioning adrenal adenomas discovered incidentally on computed tomography

    SciTech Connect

    Mitnick, J.S.; Bosniak, M.A.; Megibow, A.J.; Naidich, D.P.

    1983-08-01

    Eighteen patients with unilateral non-metastatic non-functioning adrenal masses were studied with computed tomography (CT). Pathological examination in cases revealed benign adrenal adenomas. The others were followed up with serial CT scans and found to show no change in tumor size over a period of six months to three years. On the basis of these findings, the authors suggest certain criteria of a benign adrenal mass, including (a) diameter less than 5 cm, (b) smooth contour, (c) well-defined margin, and (d) no change in size on follow-up. Serial CT scanning can be used as an alternative to surgery in the management of many of these patients.

  6. Frequency of varicella zoster virus DNA in human adrenal glands.

    PubMed

    Badani, Hussain; White, Teresa; Schulick, Nicole; Raeburn, Christopher D; Topkaya, Ibrahim; Gilden, Don; Nagel, Maria A

    2016-06-01

    Varicella zoster virus (VZV) becomes latent in ganglionic neurons derived from neural crest cells. Because the adrenal gland also contains medullary chromaffin cells of neural crest origin, we examined human adrenal glands and medullary chromaffin cell tumors (pheochromocytomas) for VZV and herpes simplex virus type 1 (HSV-1). We found VZV, but not HSV-1, DNA in 4/63 (6 %) normal adrenal glands. No VZV transcripts or antigens were detected in the 4 VZV DNA-positive samples. No VZV or HSV-1 DNA was found in 21 pheochromocytomas.

  7. A NEW CRYSTAL-CONTAINING CELL IN HUMAN ADRENAL CORTEX

    PubMed Central

    Magalhães, Maria C.

    1972-01-01

    Electron microscope examination of the adrenal cortex from three male human subjects revealed a special type of cell occurring in periendothelial spaces, in all adrenal cortex zones. It is a clear, spindle-shaped cell the principal cytoplasmic features of which are crystalline inclusions with a structure similar to that of the Reinke crystals of human testicular interstitial cells and an abundance of microfilaments. Enzymatic digestions with pronase, pepsin, and ribonuclease were performed, and no digestion of the crystals was obtained. The crystals had no peroxidase or acid phosphatase activities. This cell appears to be exclusive to human males and it may be related to adrenal androgen secretion. PMID:4347248

  8. Adrenal steroid metabolism in birds: anatomy, physiology, and clinical considerations.

    PubMed

    de Matos, Ricardo

    2008-01-01

    The hypothalamo-pituitary-adrenal system in birds is anatomically and functionally different from that in mammals. The adrenal gland structure and corticosteroid hormone physiology of birds will be reviewed. The anatomy and physiology sections of this article will be important for better understanding the pathogenesis, diagnosis, and possible treatment of primary or secondary adrenal gland disease. Causes of hyper- and hypoadrenocorticism in birds also will be reviewed. The article will conclude with current indications and complications to the clinical use of glucocorticoids in birds.

  9. Right adrenal abscess -- an unusual complication of acute apendicitis.

    PubMed

    Dimofte, Gabriel; Dubei, Liviu; Lozneanu, Lili-Gabriela; Ursulescu, Corina; Grigora Scedil, Mihai

    2004-09-01

    Acute appendicitis represents one of the most frequent abdominal emergencies encountered in everyday surgical practice. Local infectious complications are not unusual and retroperitoneal abscesses after acute retrocaecal appendicitis have been previously described. The authors present the case of a 22-years-young female patient, admitted for a right iliac fossa abscess, secondary to gangrenous appendicitis. A right adrenal mass 35/40 mm was revealed during preoperative ultrasound evaluation, which evolved in an adrenal abscess that spontaneously drained 10 days after appendectomy and retrocecal drainage. Adrenal abscesses are exceptionally rare, with only a few cases being reported in the literature, but none of these after acute appendicitis.

  10. Congenital adrenal hyperplasia: Treatment and outcomes.

    PubMed

    Kamoun, Mahdi; Feki, Mouna Mnif; Sfar, Mohamed Habib; Abid, Mohamed

    2013-10-01

    Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

  11. Circadian clock signals in the adrenal cortex.

    PubMed

    Ota, Takumi; Fustin, Jean-Michel; Yamada, Hiroyuki; Doi, Masao; Okamura, Hitoshi

    2012-02-05

    Circadian secretion of steroid hormones by the adrenal cortex is required to maintain whole body homeostasis and to adequately respond to or anticipate environmental changes. The richly vascularized zona glomerulosa (ZG) cells in the pericapsular region regulate osmotic balance of body fluid by secreting mineralocorticoids responding to circulating bioactive substances, and more medially located zona fasciculata (ZF) cells regulate energy supply and consumption by secreting glucocorticoids under neuronal and hormonal regulation. The circadian clock regulates both steroidogenic pathways: the clock within the ZG regulates mineralocorticoid production via controlling rate-limiting synthetic enzymes, and the ZF secretes glucocorticoid hormones into the systemic circulation under the control of central clock in the suprachiasmatic nucleus. A functional biological clock at the systemic and cellular levels is therefore necessary for steroid synthesis and secretion.

  12. Neonatal screening for congenital adrenal hyperplasia.

    PubMed Central

    Cacciari, E; Balsamo, A; Cassio, A; Piazzi, S; Bernardi, F; Salardi, S; Cicognani, A; Pirazzoli, P; Zappulla, F; Capelli, M

    1983-01-01

    Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening. PMID:6639129

  13. Cerebellar Hypoplasia

    MedlinePlus

    ... Programs 1825 Connecticut Avenue NW, Suite 700 Washington DC Washington, DC 20009 nichcy@aed.org http://www.nichcy.org ... Programs 1825 Connecticut Avenue NW, Suite 700 Washington DC Washington, DC 20009 nichcy@aed.org http://www. ...

  14. Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.

    PubMed

    Poungvarin, N; Viriyavejakul, A

    1991-03-01

    The first report of the rare combination of myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism was reported. The patient was a 21-year-old man who presented with stiffness of the muscles for 12 years and a history of generalised convulsion for 8 years. His school studies declined gradually and his secondary schooling was interrupted. Examination revealed a muscular young man with myotonic percussion over the muscles of the body as well as the myotonic lid lag. Chvostek's sign was positive and his serum calcium level was very low whereas the serum phosphate was high. Symmetrical and extensive calcification of the brain parenchyma was demonstrated in the CT scan. His secondary sexual characteristics were not well developed and his testes were very small. Chromosome study confirmed the diagnosis of Klinefelter syndrome by the identification of 47 XXY chromosome. He was prescribed calcium replacement and the anticonvulsant was withheld with no more episodes of seizure.

  15. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

    PubMed

    Fernández-Marmiesse, Ana; Carrascosa-Romero, M Carmen; Alfaro Ponce, Blanca; Nascimento, Andres; Ortez, Carlos; Romero, Norma; Palacios, Lourdes; Jimenez-Mallebrera, Cecilia; Jou, Cristina; Gouveia, Sofía; Couce, María L

    2017-02-01

    We report the case of a newborn with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement in which, using a customized targeted next-generation sequencing assay for 64 myopathy-associated genes, we detected a novel homozygous truncating mutation, c.38661_38665del, in exon 197 of the TTN gene that is expressed only in the fetal skeletal isoform. Its pathogenicity is supported by evidence of maternal isodisomy for chromosome 2. Muscle pathology showed fibers with core-like areas devoid of oxidative staining and cytoplasmic bodies. Electron microscopy showed the replacement of the sarcomeric structure with filamentous material. Identification of this mutation expands the phenotypic spectrum of the TTN gene and shows for the first time that a mutation not found in adult TTN isoforms is involved in the development of a neuromuscular disorder. TTN mutations should be considered in all severe congenital myopathies with arthrogryposis without cardiac involvement.

  16. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

    PubMed Central

    Imbrici, Paola; Altamura, Concetta; Camerino, Giulia Maria; Mangiatordi, Giuseppe Felice; Conte, Elena; Maggi, Lorenzo; Brugnoni, Raffaella; Musaraj, Kejla; Caloiero, Roberta; Alberga, Domenico; Marsano, Renè Massimiliano; Ricci, Giulia; Siciliano, Gabriele; Nicolotti, Orazio; Mora, Marina; Bernasconi, Pia; Desaphy, Jean-Francois; Mantegazza, Renato; Camerino, Diana Conte

    2016-01-01

    Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N dysfunction and clinical symptoms in the affected patient as well as to offer hints for drug development. Our multidisciplinary approach includes patch-clamp electrophysiology on T335N and ClC-1 wild-type channels expressed in tsA201 cells, Western blot and quantitative PCR analyses on muscle biopsies from patient and unaffected individuals, and molecular dynamics simulations using a homology model of the ClC-1 dimer. T335N channels display reduced chloride currents as a result of gating alterations rather than altered surface expression. Molecular dynamics simulations suggest that the I-J loop might be involved in conformational changes that occur at the dimer interface, thus affecting gating. Finally, the gene expression profile of T335N carrier showed a diverse expression of K+ channel genes, compared with control individuals, as potentially contributing to the phenotype. This experimental paradigm satisfactorily explained myotonia in the patient. Furthermore, it could be relevant to the study and therapy of any channelopathy.—Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mora, M., Bernasconi, P., Desaphy, J.-F., Mantegazza, R., Camerino, D. C. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies. PMID:27324117

  17. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.

    PubMed

    Imbrici, Paola; Altamura, Concetta; Camerino, Giulia Maria; Mangiatordi, Giuseppe Felice; Conte, Elena; Maggi, Lorenzo; Brugnoni, Raffaella; Musaraj, Kejla; Caloiero, Roberta; Alberga, Domenico; Marsano, Renè Massimiliano; Ricci, Giulia; Siciliano, Gabriele; Nicolotti, Orazio; Mora, Marina; Bernasconi, Pia; Desaphy, Jean-Francois; Mantegazza, Renato; Camerino, Diana Conte

    2016-10-01

    Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N dysfunction and clinical symptoms in the affected patient as well as to offer hints for drug development. Our multidisciplinary approach includes patch-clamp electrophysiology on T335N and ClC-1 wild-type channels expressed in tsA201 cells, Western blot and quantitative PCR analyses on muscle biopsies from patient and unaffected individuals, and molecular dynamics simulations using a homology model of the ClC-1 dimer. T335N channels display reduced chloride currents as a result of gating alterations rather than altered surface expression. Molecular dynamics simulations suggest that the I-J loop might be involved in conformational changes that occur at the dimer interface, thus affecting gating. Finally, the gene expression profile of T335N carrier showed a diverse expression of K(+) channel genes, compared with control individuals, as potentially contributing to the phenotype. This experimental paradigm satisfactorily explained myotonia in the patient. Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. M., Mangiatordi, G. F., Conte, E., Maggi, L., Brugnoni, R., Musaraj, K., Caloiero, R., Alberga, D., Marsano, R. M., Ricci, G., Siciliano, G., Nicolotti, O., Mora, M., Bernasconi, P., Desaphy, J.-F., Mantegazza, R., Camerino, D. C. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.

  18. Differential expression of a stress-modulating gene, BRE, in the adrenal gland, in adrenal neoplasia, and in abnormal adrenal tissues.

    PubMed

    Miao, J; Panesar, N S; Chan, K T; Lai, F M; Xia, N; Wang, Y; Johnson, P J; Chan, J Y

    2001-04-01

    Genes that modulate the action of hormones and cytokines play a critical role in stress response, survival, and in growth and differentiation of cells. Many of these biological response modifiers are responsible for various pathological conditions, including inflammation, infection, cachexia, aging, genetic disorders, and cancer. We have previously identified a new gene, BRE, that is responsive to DNA damage and retinoic acid. Using multiple-tissue dot-blotting and Northern blotting, BRE was recently found to be strongly expressed in adrenal cortex and medulla, in testis, and in pancreas, whereas low expression was found in the thyroid, thymus, small intestine and stomach. In situ hybridization and immunohistochemical staining indicated that BRE was strongly expressed in the zona glomerulosa of the adrenal cortex, which synthesizes and secretes the mineralocorticoid hormones. It is also highly expressed in the glial and neuronal cells of the brain and in the round spermatids, Sertoli cells, and Leydig cells of the testis, all of which are associated with steroid hormones and/or TNF synthesis. However, BRE expression was downregulated in human adrenal adenoma and pheochromocytoma, whereas its expression was enhanced in abnormal adrenal tissues of rats chronically treated with nitrate or nitrite. These data, taken together, indicate that the expression of BRE is apparently associated with steroids and/or TNF production and the regulation of endocrine functions. BRE may play an important role in the endocrine and immune system, such as the cytokine-endocrine interaction of the adrenal gland.

  19. Unilateral pulmonary edema during laparoscopic resection of adrenal tumor

    PubMed Central

    Prakash, Smita; Nayar, Pavan; Virmani, Pooja; Bansal, Shipra; Pawar, Mridula

    2015-01-01

    Despite technological, therapeutic and diagnostic advancements, surgical intervention in pheochromocytoma may result in a life-threatening situation. We report a patient who developed unilateral pulmonary edema during laparoscopic resection of adrenal tumor. PMID:26330724

  20. Involvement of adrenal medulla grafts in the open field behavior.

    PubMed

    Jousselin-Hosaja, M; Venault, P; Tobin, C; Joubert, C; Delacour, J; Chapouthier, G

    2001-06-01

    Immunohistochemical and behavioral techniques were used to study the effects of adrenal medulla grafts, implanted in striatum after bilateral kainic acid (KA) lesions of this structure, on the open field behavior of mice. KA-induced behavioral changes in leaning, grooming and locomotor activity of the open field test were significantly improved after grafting of the adrenal medulla, and in some respects, fully restored. Immunohistochemical identification showed that grafts contained neuron-like cells with a tyrosine hydroxylase (TH), phenylethanolamine N-methyltransferase, gamma-aminobutyric acid (GABA), choline acetyltransferase (ChAT), and enkephalin-like immunostainings. A likely interpretation of this complex pattern of results is that adrenal medullary grafts may restore the deficits of GABAergic neurons which in turn reverse the abnormalities in emotionality and locomotion. Neurobiologically, these behavioral improvements probably involve GABAergic and catecholaminergic factors of adrenal medulla grafts, although other neuroactive substances, such as acetylcholine and enkephalins, cannot be excluded.

  1. Palliative intensity modulated radiation therapy for symptomatic adrenal metastasis.

    PubMed

    Mod, H; Patel, V

    2013-05-01

    Metastasis to the adrenal glands is quite common; especially from melanomas, breast, lung, renal and gastro-intestinal tumours. The most common tumour found in the adrenals in post mortem series is a metastatic tumour; incidence ranging from 13 to 27%. The diagnosis of adrenal metastasis is now more common and easier due to staging and subsequent follow up with Computed tomography /Magnetic resonance imaging and or positron emission tomography-computed tomography imaging studies. Most of the times these metastatic lesions are clinically occult and those that do have clinical symptoms complain of pain, nausea, vomiting and early satiety. We irradiated a patient of non small cell lung cancer with adrenal metastasis with palliative Intensity Modulated Radiation Therapy and achieved a good response in terms of pain relief, stable disease and no side effects of the treatment.

  2. Effect of Space Flight on Adrenal Medullary Function

    NASA Technical Reports Server (NTRS)

    Lelkes, Peter I.

    1999-01-01

    We hypothesize that microgravity conditions during space flight alter the expression and specific activities of the adrenal medullary CA synthesizing enzymes (CASE). Previously, we examined adrenals from six rats flown for six days aboard STS 54 and reported that microgravity induced a decrease in the expression and specific activity of rat adrenal medullary tyrosine hydroxylase, the rate limiting enzyme of CA synthesis, without affecting the expression of other CASE. In the past, we analyzed some of the > 300 adrenals from two previous Space Shuttle missions (PARE 03 and SLS 2). The preliminary results (a) attest to the good state of tissue preservation, thus proving the feasibility of subsequent large-scale evaluation, and (b) confirm and extend our previous findings. With this grant we will be able to expeditiously analyze all our specimens and to complete our studies in a timely fashion.

  3. Nongenomic Actions of Adrenal Steroids in the Central Nervous System

    PubMed Central

    Evanson, Nathan K.; Herman, James P.; Sakai, Randall R.; Krause, Eric G.

    2015-01-01

    Mineralocorticoids and glucocorticoids are steroid hormones that are released by the adrenal cortex in response to stress and hydromineral imbalance. Historically, adrenocorticosteroid actions are attributed to effects on gene transcription. More recently, however, it has become clear that genome-independent pathways represent an important facet of adrenal steroid actions. These hormones exert nongenomic effects throughout the body, but a significant portion of their actions are specific to the central nervous system. These actions are mediated by a variety of signalling pathways, and lead to physiologically meaningful events in vitro and in vivo. Here we review nongenomic effects of adrenal steroids in the central nervous system at the levels of behaviour, neural system activity, individual neurone activity, and subcellular signalling activity. A clearer understanding of adrenal steroid activity in the central nervous system will lead to a better ability both to treat human disease, and to reduce side-effects of steroid treatments already in use. PMID:20367759

  4. Renal and adrenal tumors: Pathology, radiology, ultrasonography, therapy, immunology

    SciTech Connect

    Lohr, E.; Leder, L.D.

    1987-01-01

    Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-do-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in case of primarily inoperable tumors. Contents: Pathology of Renal and Adrenal Neoplasms; Ultrasound Diagnosis of Renal and Pararenal Tumors; Computed-Body-Tomography of Renal Carcinoma and Perirenal Masses; Magnetic Resonance Imaging of Renal Mass Lesions; I-125 Embolotherapy of Renal Tumors; Adrenal Mass Lesions in Infants and Children; Computed Tomography of the Adrenal Glands; Scintigraphic Studies of Renal and Adrenal Function; Surgical Management of Renal Cell Carcinoma; Operative Therapy of Nephroblastoma; Nonoperative Treatment of Renal Cell Carcinoma; Prenatal Wilms' Tumor; Congenital Neuroblastoma; Nonsurgical Management of Wilms' Tumor; Immunologic Aspects of Malignant Renal Disease.

  5. Primary adrenal insufficiency in case of antiphospholipid syndrome

    PubMed Central

    Sanyal, Debmalya; Raychaudhuri, Moutusi

    2013-01-01

    Addison's disease or primary adrenal insufficiency (PAI) is a rare manifestation of antiphospholipid syndrome (APS). PAI is the most common among the endocrinologic manifestations and can also rarely be the presenting symptom of APS. Venous thrombosis and/or adrenal hemorrhage are the leading cause of PAI in APS. Autoimmune adrenal failure is postulated to be another possible mechanism. We report a case of PAI in a 44-year-old lady preceding primary APS, probably autoimmune, without any evidence of adrenal hemorrhage or infarction. High index of clinical suspicion for PAI in APS is needed; conversely APS should be considered as a possible pathogenetic process in patients presenting with Addison's disease where the etiology is not obvious. PMID:24251177

  6. Adrenal lymphangioma: clinicopathologic and immunohistochemical characteristics of a rare lesion.

    PubMed

    Ellis, Carla L; Banerjee, Priya; Carney, Erin; Sharma, Rajni; Netto, George J

    2011-07-01

    Adrenal lymphangiomas, also known as cystic adrenal lymphangiomas, are rare, benign vascular lesions that usually remain asymptomatic throughout life. Although previously adrenal lymphangioma lesions were primarily found at autopsy, they are currently detected during imaging work-up for unrelated causes and are likely to imitate other adrenocortical or adrenal medullary neoplasms. We aimed to retrospectively review all adrenal lymphangioma cases at our hospital and further document their lymphatic origin by immunohistochemical staining. A search of surgical pathology records (1984-2008) was conducted. All hematoxylin and eosin sections were retrieved from archives and reviewed by 2 pathologists in the study. Clinical information was gathered from electronic medical records. Representative paraffin-embedded sections from each case were selected for immunohistochemical analysis using monoclonal antibodies D2-40 and AE1/AE3. A total of 9 adrenal lymphangioma cases were identified (6 women and 3 men). All 9 patients were adults at time of diagnosis with a mean age of 42 years (range, 28-56 years). There were 7 white patients, 1 African American patient, and 1 Asian patient. The average size of an adrenal lymphangioma lesion was 4.9 cm (range, 2.0-13.5 cm). Adrenal lymphangioma was twice more frequently located on the right side (6 right-sided and 3 left-sided). Clinically, 4 (44%) of the 9 lesions presented with abdominal, flank, or back pain. One lymphangioma was found during work-up for labile hypertension. The remaining 4 lesions (44%) were asymptomatic and incidentally found during imaging studies for unrelated causes. Surgical removal was achieved by total adrenalectomy in 8 of the 9 lesions and by partial adrenalectomy in the remaining case. No evidence of recurrence or development of a contralateral lesion was encountered in any of the patients. Histologically, our adrenal lymphangiomas showed a typical multicystic architecture with dilated spaces lined by

  7. Diagnostic dilemmas in enlarged and diffusely hemorrhagic adrenal glands.

    PubMed

    Diolombi, Mairo L; Khani, Francesca; Epstein, Jonathan I

    2016-07-01

    We have noted an increasing number of cases of enlarged adrenal glands where the underlying diagnosis was masked by a diffusely hemorrhagic process. We identified from our database 59 cases (32 consults, 27 routine) of adrenal glands with diffuse (>25%) hemorrhage received between 2000 and 2014. Fifty-three adrenalectomies and 6 biopsies were identified. The diagnoses after central review were 41 adrenocortical adenomas, 1 nodular adrenocortical hyperplasia with associated myelolipoma, 1 benign adrenocortical cyst, and 10 nonneoplastic adrenal glands with hemorrhage. A definitive diagnosis for the 6 biopsies was precluded by the sample size. The adrenocortical adenomas (size, 1-13 cm; 25%-95% hemorrhage) showed clear cell change in the neoplastic area (10%-80% of the tumor), 19 showed focal calcification (1 with ossification), 11 showed areas of papillary endothelial hyperplasia, 10 showed scattered lymphoplasmacytic inflammation, 6 showed benign cortical tissue extending beyond the adrenal capsule into soft tissue, 1 showed necrosis in the form of ghost cells, 2 showed lipomatous change, and 6 were associated with incidental benign lesions (1 cortical cyst, 1 schwannoma, and 4 myelolipomas). Twenty-four of the adrenocortical adenomas were consults where the referring pathologist had trouble classifying the lesion. Of the 10 nonneoplastic adrenals (4.5-22 cm; 40%-80% hemorrhage), 2 were consults. In summary, pathologists have difficulties recognizing adrenocortical adenomas in the setting of a massively enlarged and hemorrhagic adrenal gland. Although there is a correlation between adrenocortical malignancy and size, hemorrhage into nonmalignant adrenal glands can result in markedly enlarged adrenals.

  8. Serotonin and pituitary-adrenal function. [in rat under stress

    NASA Technical Reports Server (NTRS)

    Berger, P. A.; Barchas, J. D.; Vernikos-Danellis, J.

    1974-01-01

    An investigation is conducted to evaluate the response of the pituitary-adrenal system to a stress stimulus in the rat. In the investigation brain serotonin synthesis was inhibited with p-chlorophenylalanine. In other tests the concentration of serotonin was enhanced with precursors such as tryptophan or 5-hydroxytryptophan. On the basis of the results obtained in the study it is speculated that in some disease states there is a defect in serotonergic neuronal processes which impairs pituitary-adrenal feedback mechanisms.

  9. Autochthonous blastomycosis of the adrenal: first case report from Asia.

    PubMed

    Kumar, Anil; Sreehari, Sreekala; Velayudhan, Kandan; Biswas, Lalitha; Babu, Rachana; Ahmed, Shabeer; Sharma, Neelakanta; Kurupath, Vasanth P; Jojo, Annie; Dinesh, Kavitha R; Karim, Shamsul; Biswas, Raja

    2014-04-01

    Systemic endemic mycoses, such as blastomycosis, are rare in Asia and have been reported as health risks among travelers who visit or reside in an endemic area. Adrenal involvement is rarely seen in blastomycosis and has never been reported from Asia. We report the first case of blastomycosis with bilateral involvement of the adrenals in a diabetic patient residing in the state of Arunachal Pradesh, India.

  10. A Multidisciplinary Approach to Educating Preschool Children with Optic Nerve Hypoplasia and Septo-Optic Nerve Dysplasia.

    ERIC Educational Resources Information Center

    Bahar, Cheryl; Brody, Jill; McCann, Mary Ellen; Mendiola, Rosalinda; Slott, Gayle

    2003-01-01

    This article discusses the observations and experiences of a multidisciplinary team at the Blind Childrens Center in Los Angeles, which works specifically with children from birth to 5 years of age who have been diagnosed with optic nerve hypoplasia and may have septo-optic displasia. Strategies for educational interventions are explained.…

  11. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

    PubMed

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S

    2014-05-01

    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

  12. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    PubMed Central

    Satyarthee, Guru Dutta; Mankotia, Dipanker Singh

    2016-01-01

    Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating. PMID:27857796

  13. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    PubMed Central

    2014-01-01

    Background Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine atrophy, and severe mental and motor impairments. PCH1 is distinctly characterized by the combination with degeneration of spinal motor neurons. Recently, mutations in the exosome component 3 gene (EXOSC3) have been identified in approximately half of the patients with PCH subtype 1. Methods We selected a cohort of 99 PCH patients (90 families) tested negative for mutations in the TSEN genes, RARS2, VRK1 and CASK. Patients in this cohort were referred with a tentative diagnose PCH type 1, 2, 4, 7 or unclassified PCH. Genetic analysis of the EXOSC3 gene was performed using Sanger sequencing. Clinical data, MR images and autopsy reports of patients positive for EXOSC3 mutations were analyzed. Results EXOSC3 mutations were found in twelve families with PCH subtype 1, and were not found in patients with other PCH subtypes. Identified mutations included a large deletion, nonsense and missense mutations. Examination of clinical data reveals a prolonged disease course in patients with a homozygous p.D132A mutation. MRI shows variable pontine hypoplasia in EXOSC3 mediated PCH, where the pons is largely preserved in patients with a homozygous p.D132A mutation, but attenuated in patients with other mutations. Additionally, bilateral cerebellar cysts were found in patients compound heterozygous for a p.D132A mutation and a nonsense allele. Conclusions EXOSC3 mediated PCH shows clear genotype-phenotype correlations. A homozygous p.D132A mutation leads to PCH with possible survival into early puberty, and preservation of the pons. Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly

  14. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    PubMed Central

    Miyake, Tomoko; Kojima, Shota; Sugiyama, Tetsuya; Ueki, Mari; Sugasawa, Jun; Oku, Hidehiro; Tajiri, Kensuke; Shigemura, Yuka; Ueda, Koichi; Harada, Atsuko; Yamasaki, Mami; Yamanaka, Takumi; Utsunomiya, Hidetsuna; Ikeda, Tsunehiko

    2016-01-01

    Introduction The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins) and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA) handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter) and 8 mmHg (Oculus Sinister). B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound biomicroscopy revealed that almost all directions were open except for the peripheral anterior synechia. Since magnetic resonance imaging revealed ventriculomegaly associated with an interhemispheric cyst at birth, a ventriculoperitoneal shunt was inserted at 12 days of age. At 25 months of age, her condition suddenly deteriorated due to occlusion of the ventricular shunt catheter, and she died 5 days later. In this patient, amniotic band syndrome was presumed to be the primary cause due to the clinical findings. Conclusion We experienced a case of optic-nerve hypoplasia and anterior segment abnormality that occurred with facial cleft. The cause of these

  15. High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

    PubMed Central

    Pilat, Anastasia; Sibley, Daniel; McLean, Rebecca J.; Proudlock, Frank A.; Gottlob, Irene

    2015-01-01

    Purpose To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). Design Prospective, cross-sectional, observational study. Subjects A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls. Methods High-resolution SD OCT (Copernicus [Optopol Technology S.A., Zawiercie, Poland], 3 μm resolution) and handheld SD OCT (Bioptigen Inc [Research Triangle Park, NC], 2.6 μm resolution) devices were used to acquire horizontal scans through the center of the optic disc and macula. Main Outcome Measures Horizontal optic disc/cup and rim diameters, cup depth, peripapillary retinal nerve fiber layer (RNFL), and thickness of individual retinal layers in participants with ONH and in controls. Results Patients with ONH had significantly smaller discs (P < 0.03 and P < 0.001 compared with unaffected eye and healthy controls, respectively), horizontal cup diameter (P < 0.02 for both), and cup depth (P < 0.02 and P < 0.01, respectively). In the macula, significantly thinner RNFL (nasally), ganglion cell layer (GCL) (nasally and temporally), inner plexiform layer (IPL) (nasally), outer nuclear layer (ONL) (nasally), and inner segment (centrally and temporally) were found in patients with ONH compared with the control group (P < 0.05 for all comparisons). Continuation of significantly thicker GCL, IPL, and outer plexiform layer in the central retinal area (i.e., foveal hypoplasia) was found in more than 80% of patients with ONH. Clinically unaffected fellow eyes of patients with ONH showed mild features of underdevelopment. Visual acuity and presence of septo-optic dysplasia were associated with changes in GCL and IPL. Sensitivity and specificity for the detection of ONH based on disc and retinal optical coherence tomography (OCT) parameters were >80

  16. Phosphodiesterases and Adrenal Cushing in Mice and Humans

    PubMed Central

    Szarek, E.; Stratakis, C. A.

    2016-01-01

    The majority of benign adrenal cortex lesions leading to Cushing syndrome are associated to one or another abnormality of the cAMP/cGMP-phosphodiesterase signaling pathway. Phosphodiesterases (PDEs) are key regulatory enzymes of intracellular cAMP/cGMP levels. These second messengers play important regulatory roles in controlling steroidogenesis in the adrenal. Disruption of PDEs has been associated with a number of adrenal diseases. Specifically, genetic mutations have been associated with benign adrenal lesions, leading to Cushing syndrome and/or related adrenal hyperplasias. A Genome Wide Association study, in 2006, led to the identification of mutations in 2 PDE genes: PDE8B and PDE11A; mutations in these 2 genes modulate steroidogenesis. Further human studies have identified PDE2 as also directly regulating steroidogenesis. PDE2 decreases aldosterone production. This review focuses on the most recent knowledge we have gained on PDEs and their association with adrenal steroidogenesis and altered function, through analysis of patient cohorts and what we have learned from mouse studies. PMID:25232906

  17. The adrenal gland: common disease states and suspected new applications.

    PubMed

    Gorman, Linda S

    2013-01-01

    The adrenal gland, while small in size, provides a major punch to human metabolism. The interplay between the adrenal cortex hormones aldosterone and cortisol provides needed regulation to human metabolism. Aldosterone regulates the body sodium content affecting blood pressure thru fluid-volume regulation by the kidney. Cortisol, also from the adrenal cortex, contributes to regulation of glucose and protein metabolism. Diseases like addison's disease and Cushing's syndrome that affect the normal levels of these hormones can lead to serious pathologies that need to be detected thru clinical laboratory testing. The inner core of the adrenal gland, called the medulla, houses the catecholamine epinephrine, a fast acting neuropeptide hormone that can influence body action and energy levels quickly. The pheochromocytomas pathology of the adrenal medulla adversely affects the medulla hormones and needs to be recognized by clinical laboratory testing. The overview of the adrenal gland and its potential pathologies needs to be looked at anew in relation to post-traumatic stress disorder to find any linkage that may aid in the treatment and cure of our affected military soldiers. This interrelationship between cortisol and epinephrine in PTSD should be closely evaluated to determine if the suspected linkages are significant.

  18. Direct effects of recurrent hypoglycaemia on adrenal catecholamine release.

    PubMed

    Orban, Branly O; Routh, Vanessa H; Levin, Barry E; Berlin, Joshua R

    2015-01-01

    In Type 1 and advanced Type 2 diabetes mellitus, elevation of plasma epinephrine plays a key role in normalizing plasma glucose during hypoglycaemia. However, recurrent hypoglycaemia blunts this elevation of plasma epinephrine. To determine whether recurrent hypoglycaemia affects peripheral components of the sympatho-adrenal system responsible for epinephrine release, male rats were administered subcutaneous insulin daily for 3 days. These recurrent hypoglycaemic animals showed a smaller elevation of plasma epinephrine than saline-injected controls when subjected to insulin-induced hypoglycaemia. Electrical stimulation of an adrenal branch of the splanchnic nerve in recurrent hypoglycaemic animals elicited less release of epinephrine and norepinephrine than in controls, without a change in adrenal catecholamine content. Responsiveness of isolated, perfused adrenal glands to acetylcholine and other acetylcholine receptor agonists was also unchanged. These results indicate that recurrent hypoglycaemia compromised the efficacy with which peripheral neuronal activity stimulates adrenal catecholamine release and demonstrate that peripheral components of the sympatho-adrenal system were directly affected by recurrent hypoglycaemia.

  19. Standards of ultrasound imaging of the adrenal glands.

    PubMed

    Słapa, Rafał Z; Jakubowski, Wiesław S; Dobruch-Sobczak, Katarzyna; Kasperlik-Załuska, Anna A

    2015-12-01

    Adrenal glands are paired endocrine glands located over the upper renal poles. Adrenal pathologies have various clinical presentations. They can coexist with the hyperfunction of individual cortical zones or the medulla, insufficiency of the adrenal cortex or retained normal hormonal function. The most common adrenal masses are tumors incidentally detected in imaging examinations (ultrasound, tomography, magnetic resonance imaging), referred to as incidentalomas. They include a range of histopathological entities but cortical adenomas without hormonal hyperfunction are the most common. Each abdominal ultrasound scan of a child or adult should include the assessment of the suprarenal areas. If a previously non-reported, incidental solid focal lesion exceeding 1 cm (incidentaloma) is detected in the suprarenal area, computed tomography or magnetic resonance imaging should be conducted to confirm its presence and for differentiation and the tumor functional status should be determined. Ultrasound imaging is also used to monitor adrenal incidentaloma that is not eligible for a surgery. The paper presents recommendations concerning the performance and assessment of ultrasound examinations of the adrenal glands and their pathological lesions. The article includes new ultrasound techniques, such as tissue harmonic imaging, spatial compound imaging, three-dimensional ultrasound, elastography, contrast-enhanced ultrasound and parametric imaging. The guidelines presented above are consistent with the recommendations of the Polish Ultrasound Society.

  20. Percutaneous interstitial brachytherapy for adrenal metastasis: technical report.

    PubMed

    Kishi, Kazushi; Tamura, Shinji; Mabuchi, Yasushi; Sonomura, Tetsuo; Noda, Yasutaka; Nakai, Motoki; Sato, Morio; Ino, Kazuhiko; Yamanaka, Noboru

    2012-09-01

    We developed and evaluated the feasibility of a brachytherapy technique as a safe and effective treatment for adrenal metastasis. Adapting a paravertebral insertion technique in radiofrequency ablation of adrenal tumors, we developed an interstitial brachytherapy for adrenal metastasis achievable on an outpatient basis. Under local anesthesia and under X-ray CT guidance, brachytherapy applicator needles were percutaneously inserted into the target. A treatment plan was created to eradicate the tumor while preserving normal organs including the spinal cord and kidney. We applied this interstitial brachytherapy technique to two patients: one who developed adrenal metastasis as the third recurrence of uterine cervical cancer after reirradiation, and one who developed metachronous multiple metastases from malignant melanoma. The whole procedure was completed in 2.5 hours. There were no procedure-related or radiation-related early/late complications. FDG PET-CT images at two and three months after treatment showed absence of FDG uptake, and no recurrence of the adrenal tumor was observed for over seven months until expiration, and for six months until the present, respectively. This interventional interstitial brachytherapy procedure may be useful as a safe and eradicative treatment for adrenal metastasis.

  1. Mass spectrometry theory and application to adrenal diseases.

    PubMed

    Wooding, Kerry M; Auchus, Richard J

    2013-05-22

    The diagnosis and management of adrenal diseases hinge upon accurate determination of hormone concentrations in blood and other body fluids. The advent of immunoassays for various steroid hormones has enabled the remarkable progress in adrenal disease over the last several decades, with some limitation. Sequential immunoassay of single analytes is a tedious process, which requires aliquots for each assay. In many complex adrenal diseases, including adrenal cancer and congenital adrenal hyperplasia, the patterns or ratios of multiple steroids rather than the value of any one steroid is more relevant. Although gas chromatography/mass spectrometry of urinary steroid metabolites has been employed to profile steroid production, throughput is slow, and availability is sparse. Recent generations of liquid chromatography-tandem mass spectrometry instruments (LC-MS/MS) provide the throughput and sensitivity required to measure many steroids simultaneously using small samples for commercial and research uses. Even in the best hands, however, LC-MS/MS suffers from limitations and requires diligent attention to detail during method development and implementation. This article reviews the theory, instrumentation principles and terminology, and practical application of mass spectrometry to clinical adrenal disorders.

  2. Robot-assisted partial adrenalectomy for isolated adrenal metastasis.

    PubMed

    Kumar, Angelish; Hyams, Elias S; Stifelman, Michael D

    2009-04-01

    Adrenal-sparing surgery is an effective and safe alternative to total adrenalectomy for small, benign adrenal lesions and may decrease the risk of the development of adrenal insufficiency. While series of laparoscopic partial adrenalectomy have demonstrated safety and excellent long-term outcomes, there have been no reports of a complete robot-assisted partial adrenalectomy. We believe that robotic techniques may be useful for this procedure, given the complex vascularity and small size of the adrenal gland. Furthermore, there have been no reports of minimally invasive partial adrenalectomy for management of small, isolated adrenal metastasis. We report a case of robot-assisted partial adrenalectomy in a patient with a history of renal-cell carcinoma who had previously undergone contralateral adrenalectomy for metastasis. We report our surgical technique and short-term follow-up for our patient. To our knowledge, this is the first report of a complete robot-assisted partial adrenalectomy and the first report of minimally invasive partial adrenalectomy for an isolated adrenal metastasis.

  3. The Interplay between Estrogen and Fetal Adrenal Cortex

    PubMed Central

    Kaludjerovic, Jovana; Ward, Wendy E.

    2012-01-01

    Estrogen is a steroid hormone that regulates embryogenesis, cell proliferation and differentiation, organogenesis, the timing of parturition, and fetal imprinting by carrying chemical messages from glands to cells within tissues or organs in the body. During development, placenta is the primary source of estrogen production but estrogen can only be produced if the fetus or the mother supplies dehydroepiandrosterone (DHEA), the estrogen prohormone. Studies show that the fetal zone of the fetal adrenal cortex supplies 60% of DHEA for placental estrogen production, and that placental estrogen in turn modulates the morphological and functional development of the fetal adrenal cortex. As such, in developed countries where humans are exposed daily to environmental estrogens, there is concern that the development of fetal adrenal cortex, and in turn, placental estrogen production may be disrupted. This paper discusses fetal adrenal gland development, how endogenous estrogen regulates the structure and function of the fetal adrenal cortex, and highlights the potential role that early life exposure to environmental estrogens may have on the development and endocrinology of the fetal adrenal cortex. PMID:22536492

  4. Ontogeny of adrenal steroid biosynthesis: why girls will be girls

    PubMed Central

    White, Perrin C.

    2006-01-01

    Male and female external genitalia appear identical early in gestation. Testosterone exposure at 8–12 weeks’ gestation causes male differentiation. Female fetuses virilize if their adrenals secrete excessive levels of androgens, as occurs in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. This can be ameliorated by administering dexamethasone to the mother. A study by Goto et al. in this issue of the JCI provides a rationale for this treatment by demonstrating that the fetal hypothalamic-pituitary-adrenal axis is fully functional when the genitalia differentiate (see the related article beginning on page 953). Dexamethasone suppresses this axis, reducing abnormal secretion of adrenal androgens. Their results also show that cortisol synthesis by the fetal adrenal decreases after this period, allowing the adrenal to secrete high levels of dehydroepiandrosterone, an androgen precursor. However, this does not virilize female fetuses because androgens are aromatized to estrogens in the placenta. Thus normal sexual differentiation requires exquisite timing of fetal cortisol and androgen secretion versus placental capacity for aromatization. PMID:16585958

  5. Luteinizing hormone (LH)-releasing hormone agonist reduces serum adrenal androgen levels in prostate cancer patients: implications for the effect of LH on the adrenal glands.

    PubMed

    Nishii, Masahiro; Nomura, Masashi; Sekine, Yoshitaka; Koike, Hidekazu; Matsui, Hiroshi; Shibata, Yasuhiro; Ito, Kazuto; Oyama, Tetsunari; Suzuki, Kazuhiro

    2012-01-01

    Recently, adrenal androgens have been targeted as key hormones for the development of castration-resistant prostate cancer therapeutics. Although circulating adrenal androgens originate mainly from the adrenal glands, the testes also supply about 10%. Although widely used in androgen deprivation medical castration therapy, the effect of luteinizing hormone-releasing hormone (LH-RH) agonist on adrenal androgens has not been fully studied. In this study, changes in testicular and adrenal androgen levels were measured and compared to adrenocorticotropic hormone levels. To assess the possible role of LH in the adrenal glands, immunohistochemical studies of the LH receptor in normal adrenal glands were performed. Forty-seven patients with localized or locally progressive prostate cancer were treated with LH-RH agonist with radiotherapy. Six months after initiation of treatment, testosterone, dihydrotestosterone, and estradiol levels were decreased by 90%-95%, and dehydroepiandrosterone-sulfate, dehydroepiandrosterone, and androstenedione levels were significantly decreased by 26%-40%. The suppressive effect of LH-RH agonist at 12 months was maintained. Adrenocorticotropic hormone levels showed an increasing trend at 6 months and a significant increase at 12 months. LH receptors were positively stained in the cortex cells of the reticular layer of the adrenal glands. The long-term LH-RH agonist treatment reduced adrenal-originated adrenal androgens. LH receptors in the adrenal cortex cells of the reticular layer might account for the underlying mechanism of reduced adrenal androgens.

  6. Hypogonadotropic Hypogonadism in Subjects with DAX1 Mutations

    PubMed Central

    Jadhav, Unmesh; Harris, Rebecca M.; Jameson, J. Larry

    2011-01-01

    DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1; also known as NROB1, nuclear receptor subfamily 0, group B, member 1) encodes a nuclear receptor that is expressed in embryonic stem (ES) cells, steroidogenic tissues (gonads, adrenals), the ventromedial hypothalamus (VMH), and pituitary gonadotropes. Humans with DAX1 mutations develop an X-linked syndrome referred to as adrenal hypoplasia congenita (AHC). These boys typically present in infancy with adrenal failure but later fail to undergo puberty because of hypogonadotropic hypogonadism (HHG). The adrenal failure reflects a developmental abnormality in the transition of the fetal to adult zone, resulting in glucocorticoid and mineralocorticoid deficiency. The etiology of HHG involves a combined and variable deficiency of hypothalamic GnRH secretion and/or pituitary responsiveness to GnRH resulting in low LH, FSH and testosterone. Treatment with exogenous gonadotropins generally does not induce spermatogenesis. Animal models indicate that DAX1 also plays a critical role in testis development and function. As a nuclear receptor, DAX1 has been shown to function as a transcriptional repressor, particularly of pathways regulated by other nuclear receptors, such as steroidogenic factor 1 (SF1). In addition to reproductive tissues, DAX1 is also expressed at high levels in ES cells and plays a role in the maintenance of pluripotentiality. Here we review the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function based on animal models and in vitro studies. PMID:21672607

  7. Adipose tissue and adrenal glands: novel pathophysiological mechanisms and clinical applications.

    PubMed

    Kargi, Atil Y; Iacobellis, Gianluca

    2014-01-01

    Hormones produced by the adrenal glands and adipose tissues have important roles in normal physiology and are altered in many disease states. Obesity is associated with changes in adrenal function, including increase in adrenal medullary catecholamine output, alterations of the hypothalamic-pituitary-adrenal (HPA) axis, elevations in circulating aldosterone together with changes in adipose tissue glucocorticoid metabolism, and enhanced adipocyte mineralocorticoid receptor activity. It is unknown whether these changes in adrenal endocrine function are in part responsible for the pathogenesis of obesity and related comorbidities or represent an adaptive response. In turn, adipose tissue hormones or "adipokines" have direct effects on the adrenal glands and interact with adrenal hormones at several levels. Here we review the emerging evidence supporting the existence of "cross talk" between the adrenal gland and adipose tissue, focusing on the relevance and roles of their respective hormones in health and disease states including obesity, metabolic syndrome, and primary disorders of the adrenals.

  8. Hypoplasia of a permanent incisor produced by primary incisor intrusion: a case report.

    PubMed

    Altun, Ceyhan; Esenlik, Elçin; Tözüm, Tolga Fikret

    2009-04-01

    Orofacial trauma is a serious orodental and general health problem that may have medical, esthetic and psychological consequences for children and their parents. When the root of the primary tooth is close to the unerupted permanent tooth, primary tooth trauma may result in developmental disturbances and pulpal reaction in that permanent tooth. We report an unusual case in which injury to the primary dentition resulted in developmental disturbances in the crown and the calcified structures in the pulp chamber of the permanent tooth. Localized malformation of the crown and enamel hypoplasia were treated with a light-cured composite resin restoration. We also discuss the formation of pulp calcification and the need for endodontic treatment.

  9. Esthetic and endosurgical management of Turner's hypoplasia; a sequlae of trauma to developing tooth germ.

    PubMed

    Bhushan, B A; Garg, S; Sharma, D; Jain, M

    2008-01-01

    Turner's hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. A case report of 8 year old girl who met with trauma at 2 years of age leading to primary incisors being knocked out, reported after 6 years with complaint of pain and discharge in her anterior malformed teeth is discussed in this article. The permanent incisors erupted with dilacerated crown, root malformations and missing enamel. Further, patient developed sinus, lateral root pathology, tooth mobility and malocclusion in relation to affected teeth which were managed by esthetic, functional, endodontic and surgical procedure. Root canal treatment along with palatal contouring and esthetic restoration by light cure composite was performed on the tooth with crown dilaceration and sinus, where as surgical management was considered for the tooth with root malformation.

  10. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

    PubMed Central

    Stoll, Marion; Teoh, Hooiling; Lee, James; Reddel, Stephen; Zhu, Ying; Buckley, Michael; Sampaio, Hugo; Roscioli, Tony; Farrar, Michelle

    2016-01-01

    Objective: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. Methods: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. Results: We identified pathogenic mutations in the VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). In family 2, a novel VRK1 mutation, c.403G>A; p.G135R and c.583T>G; p.L195V, were identified in a child with motor neuron disease. Conclusions: VRK1 mutations can produce adult-onset SMA and motor neuron disease in children without pontocerebellar hypoplasia. PMID:27281532

  11. Hypodontia and hypoplasia of mandible: A rare defect caused by combination therapy

    PubMed Central

    Kumar, Senthil; Mahabob, Nazargi

    2013-01-01

    Hypodontia is defined as the developmental absence of one or more tooth and it can present in varying degrees of severity and severe hypodontia has been defined as the absence of six teeth, excluding third molars. Radiation plays an important role in the treatment of head and neck cancer, in spite of its benefits, radiation has several side-effects in the head and neck region. This article highlights a case report, where hypodontia, hypoplasia of mandible, stunded permanent teeth roots, microdontia, inversion of tooth bud were observed in 19 years old patient who was diagnosed with Langerhans cell histiocytosis at her age of 3 years she had received a combination of radiotherapy and chemotherapy for a period of 1 year and radiation of 50 Gy was used in the head and neck region. Radiographs were taken and it revealed abnormal changes in growth and development of bone and teeth. PMID:23956604

  12. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    PubMed

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog.

  13. The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

    PubMed

    Akhter, N; Begum, B N; Newaz, M

    2015-07-01

    We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.

  14. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    PubMed

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-05

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

  15. Correction of pectus excavatum with breast hypoplasia using simultaneous pectus bar procedure and augmentation mammoplasty.

    PubMed

    Park, Hyung Joo; Gu, Ja Hea; Jang, Joon Chul; Dhong, Eun-Sang; Yoon, Eul-Sik

    2014-08-01

    Most women with asymmetric pectus excavatum suffer from hypoplastic breasts. Hence, aesthetic correction of pectus excavatum has to address thoracic wall deformity, breast hypoplasia, and asymmetry.In retrospective series, 21 patients with a diagnosis of pectus excavatum with hypoplastic breasts were corrected using the pectus bar procedure and subpectoral augmentation mammoplasty. Results were assessed by analyzing prospectively collected data and calculating pectus indices from computed tomographic scans. At 12 months postoperatively, cosmetic evaluations were performed by the patients and by an independent, board-certified plastic surgeon using score from 0 (very poor) to 4 (very good).Cosmetic results evaluated by plastic surgeon were good (3.33 ± 0.03) and patient satisfaction was high (3.52 ± 0.03). Furthermore, indices of pectus excavatum were corrected to near normal.The authors consider that the pectus bar procedure with subpectoral augmentation mammoplasty is useful for the aesthetic correction of pectus excavatum with hypoplastic breasts.

  16. New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

    PubMed Central

    Zaki, Maha S; Salam, Ghada M H Abdel; Saleem, Sahar N; Dobyns, William B; Issa, Mahmoud Y; Sattar, Shifteh; Gleeson, Joseph G

    2011-01-01

    We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc. PMID:22002884

  17. Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

    PubMed Central

    Lopez-Porras, Rocío F.; Arroyo, Carlos; Soto-Vega, Elena

    2011-01-01

    Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th-6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia. PMID:21941481

  18. AB191. Laparoscopic subcutaneous transposition of a pedicled adrenal for ACTH-independent bilateral macronodular adrenal hyperplasia

    PubMed Central

    Zhang, Weixing; Zhang, Tianbiao

    2016-01-01

    Objective Bilateral adrenalectomy or unilateral adrenalectomy and contralateral partial adrenalectomy are indicated for the treatment of ACTH-independent macronodular adrenal hyperplasia. Independent of the surgical procedure, the prognosis is poor. This paper discusses a new treatment method and its efficacy for treating nodular adrenal hyperplasia. Methods We performed a retrospective review of the medical records of 12 patients operated on between January 2008 and October 2014 at the First Affiliated Hospital of Zhengzhou University. All patients were treated by laparoscopic subcutaneous transposition of a pedicled adrenal. We performed postoperative monitoring of patients including clinical symptoms and 24-hour levels of serum free and urinary free cortisol. Results All twelve patients were pathologically confirmed to have nodular adrenal hyperplasia, and were followed for an average of 45.5 months (range, 24–60 months). The clinical symptoms of all patients disappeared, and the 24-hour plasma free cortisol and urinary free cortisol levels were within the normal range. Conclusions Laparoscopic subcutaneous transposition of a pedicled adrenal is a new and effective method for treating bilateral macronodular adrenal hyperplasia, and can achieve long-term remission of Cushing’s syndrome.

  19. Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

    PubMed Central

    Garcia-Filion, Pamela; Borchert, Mark

    2013-01-01

    Opinion statement Background Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as “septo-optic dysplasia” or “de Morsier’s syndrome.” More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. “Septo-optic dysplasia” and “de Morsier’s syndrome” are historically inaccurate and clinically misleading terms. PMID:23233151

  20. Nasal correction in nasomaxillary hypoplasia (Binder's syndrome): An optimised classification and treatment

    PubMed Central

    Yamani, Venkata Ramana; Ghosh, Shakuntala; Tirunagari, Shreekumar

    2016-01-01

    Background: Nasomaxillary hypoplasia is a rare congenital disorder involving the central face. It imparts a distinctive appearance to the individual face as the age advances. Severity of the disorder varies, so do the manifestations. Methods: This was a retrospective study conducted on the records and photographic data of 560 rhinoplasty cases performed between 2006 March and 2016 March. About 16 cases of nasomaxillary hypoplasia were selected from the group and they were classified based on the severity of the features. Surgical correction performed in each group was detailed. Results: Three percent of the 560 rhinoplasties performed in our centre turned out to be cases of Binder's syndrome. Nasal correction with locoregional autologous cartilage grafts was sufficient in mild cases. Loco-regional cartilage grafts along with costal cartilage grafts were needed for moderate and severe cases. Anterior nasal floor along with alar base augmentation was performed to achieve a proper aesthetic profile in moderate and severe cases. Post-operative results were excellent in mild and moderate cases and acceptable in severe cases. Discussion: We attempted to correct the deformity only after growth of the nose and maxilla was completed. We used cartilage grafts as a mainstay as cartilage has long-term stability without resorption unlike bone grafts. Instead of following en bloc technique of cartilage assembly, we have reconstructed the nasal dorsum, columella and tip separately as this principle is more functionally acceptable with less warping or stiffness of the nose. Importance was given to proper anchorage of grafts. Conclusion: We have attempted to put together the various features into three categories of mild/moderate/severe based on previous anthropometric studies of nasal anatomical parameters. The second objective of our study was to advise a logical surgical protocol for each group so that future surgeons can follow an easy surgical guideline to attain optimal

  1. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    SciTech Connect

    Bruckheimer, Elchanan Dagan, Tamir; Atar, Eli; Schwartz, Michael; Kachko, Ludmila; Superina, Riccardo; Amir, Gabriel; Shapiro, Rivka; Birk, Einat

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  2. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    PubMed

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P < 0.001). Expert pathologists achieve fair to substantial agreement in grading DVH, indicating consensus on the definition of DVH. Distal villous hypoplasia correlates extremely well with fractal dimension and represents an objective measure for DVH.

  3. [Adrenal tumors as a cause of hypertension].

    PubMed

    Grimaldi, Franco

    2010-01-01

    Hypertension is one of the main risk factors for cardiovascular diseases, which today are the primary cause of mortality in developed countries. To decrease the mortality and morbidity due to cardiovascular disease, it is necessary to treat hypertension correctly on the basis of an accurate diagnosis. A secondary cause of hypertension must be suspected if it is severe or resistant to treatment, if there is a sudden increase in blood pressure in a patient hitherto well controlled, or if it develops in childhood or in a person under 30 years of age, especially if not obese and without a family history of hypertension. In these instances the frequency of hypertension varies from 1-5% for mild to moderate to 10-20% for severe or refractory hypertension. One of the principal causes of secondary hypertension is related to adrenal gland tumors or dysfunctions such as Cushing's syndrome, primary aldosteronism (Conn's syndrome) and pheochromocytoma. This paper will discuss the clinical presentation and diagnostic tests pertinent to these neoplasms, organ damage assessment, utilization of imaging techniques, and the medical and surgical options.

  4. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

    PubMed Central

    Cuhaci, Neslihan; Aydın, Cevdet; Yesilyurt, Ahmet; Pınarlı, Ferda Alpaslan; Ersoy, Reyhan; Cakir, Bekir

    2015-01-01

    Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH) if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH. PMID:26558116

  5. Vesicle Pools: Lessons from Adrenal Chromaffin Cells

    PubMed Central

    Stevens, David R.; Schirra, Claudia; Becherer, Ute; Rettig, Jens

    2011-01-01

    The adrenal chromaffin cell serves as a model system to study fast Ca2+-dependent exocytosis. Membrane capacitance measurements in combination with Ca2+ uncaging offers a temporal resolution in the millisecond range and reveals that catecholamine release occurs in three distinct phases. Release of a readily releasable (RRP) and a slowly releasable (SRP) pool are followed by sustained release, due to maturation, and release of vesicles which were not release-ready at the start of the stimulus. Trains of depolarizations, a more physiological stimulus, induce release from a small immediately releasable pool of vesicles residing adjacent to calcium channels, as well as from the RRP. The SRP is poorly activated by depolarization. A sequential model, in which non-releasable docked vesicles are primed to a slowly releasable state, and then further mature to the readily releasable state, has been proposed. The docked state, dependent on membrane proximity, requires SNAP-25, synaptotagmin, and syntaxin. The ablation or modification of SNAP-25 and syntaxin, components of the SNARE complex, as well as of synaptotagmin, the calcium sensor, and modulators such complexins and Snapin alter the properties and/or magnitudes of different phases of release, and in particular can ablate the RRP. These results indicate that the composition of the SNARE complex and its interaction with modulatory molecules drives priming and provides a molecular basis for different pools of releasable vesicles. PMID:21423410

  6. Naloxone inhibits and morphine potentiates. The adrenal steroidogenic response to ACTH

    NASA Technical Reports Server (NTRS)

    Heybach, J. P.; Vernikos, J.

    1980-01-01

    The adrenal actions were stereospecific since neither the positve stereoisomer of morphine, nor that of naloxone, had any effect on the adrenal response to exogenous adrenocorticotrophic hormone (ACTH). The administration of human beta endorphin to phyophysectomized rats had no effect on the adrenal corticosterone concentration nor did it alter the response of the adrenal gland to ACTH. These results indicate that morphine can potentiate the action of ACTH on the adrenal by a direct, stereospecific, dose dependent mechanism that is prevented by naloxone pretreatment and which may involve competition for ACTH receptors on the corticosterone secreting cells of the adrenal cortex.

  7. (18)F-FDG PET/CT in bilateral primary adrenal T-cell lymphoma.

    PubMed

    Santhosh, Sampath; Mittal, Bhagwant Rai; Shankar, Praveen; Kashyap, Raghava; Bhattacharya, Anish; Singh, Baljinder; Das, Ashim; Bhansali, Anil

    2011-01-01

    Primary adrenal lymphoma is extremely rare. We report a young patient who presented with non- specific symptoms of fever and abdominal pain. Conventional imaging modalities demonstrated bilateral bulky adrenal masses, and whole-body fluorine-18-fluorodesoxyglucose ((18)F-FDG) positron emission tomography/computed tomography showed intense (18)F-FDG-avid bilateral adrenal masses with no evidence of extra-adrenal spread. A pathological diagnosis of non-Hodgkin lymphoma of peripheral T-cell type was made. The present case indicates that primary adrenal lymphoma should be included in the differential diagnosis of bilateral adrenal masses.

  8. Cystic adrenal lesions: focus on pediatric population (a review)

    PubMed Central

    CARSOTE, MARA; GHEMIGIAN, ADINA; TERZEA, DANA; GHEORGHISAN-GALATEANU, ANCUTA AUGUSTINA; VALEA, ANA

    2017-01-01

    Background and aim The cysts may potentially affect any organ; adrenals cysts are rare. This is a review of the literature regarding adrenal cysts, focusing on children and young adults. General data Three major types have been described: pure cysts (endothelial, epithelial, and hemorrhagic or pseudocyst), parasitic (as hydatid) cysts and cystic part of a tumour (most frequent are neuroblastoma, ganglioneuroma, pheocromocytoma, and teratoma). The complications are: bleeding, local pressure effects; infection; rupture (including post-traumatic); arterial hypertension due to renal vessels compression. Adrenal hemorrhage represents a particular condition associating precipitating factors such as: coagulation defects as Factor IX or X deficiency, von Willebrand disease, thrombocytopenia; antiphospholipid syndrome; previous therapy with clopidogrel or corticosteroids; the rupture of a prior tumour. At birth, the most suggestive features are abdominal palpable mass, anemia, and persistent jaundice. Adrenal insufficiency may be found especially in premature delivery. The hemorrhage is mostly self-limiting. Antenatal ultrasound diagnosis of a cyst does not always predict the exact pathology result. The most important differential diagnosis of adrenal hemorrhage/hemorrhagic cyst is cystic neuroblastoma which is highly suggestive in the presence of distant metastases and abnormal catecholamine profile. The major clue to differentiate the two conditions is the fact that the tumor is stable or increases over time while the adrenal hemorrhage is expected to remit within one to two weeks. Conclusion Pediatric adrenal cysts vary from simple cysts with a benign behavior to neoplasia- related lesions displaying severe prognosis as seen in cystic neuroblastoma. A multidisciplinary team is required for their management which is conservative as close follow-up or it makes necessary different surgical procedures in cases with large masses or if a malignancy suspicion is presented

  9. Stereotactic Body Radiotherapy for Treatment of Adrenal Metastases

    SciTech Connect

    Chawla, Sheema; Chen, Yuhchyau; Katz, Alan W.; Muhs, Ann G.; Philip, Abraham; Okunieff, Paul; Milano, Michael T.

    2009-09-01

    Purpose: To investigate the dosimetry and outcomes of patients undergoing stereotactic body radiotherapy (SBRT) for metastases to the adrenal glands. Methods and Materials: At University of Rochester, patients have been undergoing SBRT for limited metastases since 2001. We retrospectively reviewed 30 patients who had undergone SBRT for adrenal metastases from various primary sites, including lung (n = 20), liver (n = 3), breast (n = 3), melanoma (n = 1), pancreas (n = 1), head and neck (n = 1), and unknown primary (n = 1). Results: Of the 30 patients, 14 with five or fewer metastatic lesions (including adrenal) underwent SBRT, with the intent of controlling all known sites of metastatic disease, and 16 underwent SBRT for palliation or prophylactic palliation of bulky adrenal metastases. The prescribed dose ranged from 16 Gy in 4 fractions to 50 Gy in 10 fractions. The median dose was 40 Gy. Of the 30 patients, 24 had >3 months of follow-up with serial computed tomography. Of these 24 patients, 1 achieved a complete response, 15 achieved a partial response, 4 had stable disease, and 4 developed progressive disease. No patient developed symptomatic progression of their adrenal metastases. The 1-year survival, local control, and distant control rate was 44%, 55%, and 13%, respectively. No patient developed Radiation Therapy Oncology Group Grade 2 or greater toxicity. Conclusion: SBRT for adrenal metastases is well tolerated. Most patients developed widespread metastases shortly after treatment. Local control was poor, although this was a patient population selected for adverse risk factors, such as bulky disease. Additional studies are needed to determine the efficacy of SBRT for oligometastatic adrenal metastases, given the propensity of these patients to develop further disease progression.

  10. Arterial vascularization and morphological characteristics of adrenal glands in the Pampas deer (Ozotoceros bezoarticus, Linnaeus 1758).

    PubMed

    Erdoğan, S; Pérez, W

    2014-10-01

    This research presents morphological characteristics of adrenal glands and a demonstration of arterial vascularization in the Pampas deer, which is considered to be in extreme danger of extinction. A total of ten deer constituted the material of the study. Vascularization of organs was investigated by using latex injection technique. Left adrenal glands were basically supplied by coeliac, cranial mesenteric, renal and lumbal arteries. The arterial vascularization of the left adrenal glands was very complex in comparison with right adrenal glands. In two examples, branch of the lumbal artery was divided into phrenic caudal artery and cranial adrenal artery. In six examples, it was observed that the caudomedial and ventral regions of the left adrenal glands were also supplied by thinner branches that stemmed from second left lumbal artery. Besides, coeliac and cranial mesenteric arteries also gave off shorter branches supplying the cranial region of the left adrenal glands in five examples. It was determined that two branches originated from abdominal aorta directly for supplying left adrenal glands in only two examples. In four examples, two caudal adrenal arteries stemmed separately from left renal artery in a short distance. Arterial vascularization of right adrenal glands was more constant and supplied by lumbal and renal arteries. The adrenal glands were generally oval or round shaped. In only two examples, left adrenal glands were 'V-' or heart-shaped. There was no significant difference (P > 0.05) in sizes between right and left adrenal glands.

  11. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency.

    PubMed

    Cohan, Pejman

    2016-01-01

    Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient's HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing's syndrome (CS).

  12. Adrenal and gonadal function in hypothyroid adult male rats.

    PubMed

    Tohei, A; Akai, M; Tomabechi, T; Mamada, M; Taya, K

    1997-01-01

    The functional relationship between thyroid, adrenal and gonadal hormones was investigated using adult male rats. Hypothyroidism was produced by the administration of 4-methyl-2-thiouracil (thiouracil) in the drinking water for 2 weeks. Plasma concentrations of TSH dramatically increased, whereas plasma concentrations of tri-iodothyronine and thyroxine decreased in thiouraciltreated rats as compared with euthyroid rats. Hypothyroidism increased basal levels of plasma ACTH and pituitary content of ACTH. The pituitary responsiveness to CRH for ACTH release markedly increased, whereas the adrenal responsiveness to ACTH for corticosterone release decreased. These results indicated that hypothyroidism causes adrenal dysfunction in adult male rats. Pituitary contents of LH and prolactin decreased in hypothyroid rats as compared with euthyroid rats. In addition, hypothyroidism lowered pituitary LH responsiveness to LHRH. Testicular responsiveness to human chorionic gonadotrophin for testosterone release, however, was not different between euthyroid and hypothyroid animals. These results indicated that hypothyroidism causes adrenal dysfunction and results in hypersecretion of ACTH from the pituitary gland. Adrenal dysfunction may contribute to the inhibition of LHRH secretion from the hypothalamus, possibly mediated by excess CRH.

  13. Nonreutilizaton of adrenal chromaffin granule membranes following secretion

    SciTech Connect

    Nobiletti, J.B.

    1985-01-01

    The intracellular postexocytotic fate of the adrenal chromaffin granule membrane (reutilization vs. nonreutilization) was addressed through two experimental approaches. First, (/sup 3/H) leucine pulse-chase labeling experiments were conducted in two systems - the isolated retrograde perfused cat adrenal gland and cultured bovine adrenal chromaffin cells to compare chromaffin granule soluble dopamine-B-hydroxylase (DBH) turnover (marker for granule soluble content turnover) to that of membrane-bound DBH (marker for granule membrane turnover). Experiments in cat adrenal glands showed that at all chase periods the granule distribution of radiolabeled DBH was in agreement with the DBH activity distribution (73% membrane-bound/27% soluble) - a result consistent with parallel turnover of soluble and membrane-bound DBH. Experiments in cultured bovine cells showed that labeled soluble and membrane-bound DBH had parallel turnover patterns and at all chase period, the distribution of radiolabeled DBH between the soluble contents and membranes was similar to the DBH activity distribution (50% soluble/50% membrane-bound). The above experiments showed that the soluble contents and membranes turnover in parallel and are consistent with nonreutilization of chromaffin granule membranes following exocytosis. Isolated retrograde perfused bovine adrenal glands were subjected to repetitive acetylcholine stimulation to induce exocytosis and then the dense and less-dense chromaffin granule fractions were isolated. Since both approaches gave results consistent with membrane nonreutilization, the authors conclude that once a chromaffin granule is involved in exocytosis, its membrane is not reutilized for the further synthesis, storage, and secretion of catecholamines.

  14. Zinc deficiency affects the composition of the rat adrenal gland

    SciTech Connect

    Rothman, R.J.; Leure-DuPree, A.E.; Fosmire, G.J.

    1986-07-01

    The response of the adrenal gland to zinc deficiency was examined in male weanling rats. In comparison with decapsulated adrenals from ad libitum fed controls, glands from zinc deficient rats had greater relative weight (mg/g body wt), DNA concentration, and total lipid and cholesterol concentrations as well as a smaller protein/DNA ratio. Several of these differences (protein/DNA and cholesterol concentration) could be attributed to the inanition accompanying zinc deficient values were similar to those of pair fed controls. Values for total DNA and protein concentration were similar for all groups. Electron micrographs of the zona fasciculata showed a small number of lipid droplets in the adrenals from ad libitum fed controls, an increase in lipid droplets from pair fed controls, and an even more striking increase in lipid droplets from the zinc deficient adrenals. The increased adrenal lipid composition in the zinc deficient group may be secondary to enhanced steroidogenesis or a zinc deficiency-induced defect of lipid metabolism.

  15. Adrenal medullary regulation of rat renal cortical adrenergic receptors

    SciTech Connect

    Sundaresan, P.R.; Guarnaccia, M.M.; Izzo, J.L. Jr. )

    1987-11-01

    The role of the adrenal medulla in the regulation of renal cortical adrenergic receptors was investigated in renal cortical particular fractions from control rats and rats 6 wk after adrenal demedullation. The specific binding of ({sup 3}H)prazosin, ({sup 3}H)rauwolscine, and ({sup 125}I)iodocyanopindolol were used to quantitate {alpha}{sub 1}-, {alpha}{sub 2}-, and {beta}-adrenergic receptors, respectively. Adrenal demedullation increased the concentration of all three groups of renal adrenergic receptors; maximal number of binding sites (B{sub max}, per milligram membrane protein) for {alpha}{sub 1}-, and {alpha}{sub 2}-, and {beta}-adrenergic receptors were increased by 22, 18.5, and 25%, respectively. No differences were found in the equilibrium dissociation constants (K{sub D}) for any of the radioligands. Plasma corticosterone and plasma and renal norepinephrine levels were unchanged, whereas plasma epinephrine was decreased 72% by adrenal demedullation, renal cortical epinephrine was not detectable in control or demedullated animals. The results suggest that, in the physiological state, the adrenal medulla modulates the number of renal cortical adrenergic receptors, presumably through the actions of a circulating factor such as epinephrine.

  16. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency

    PubMed Central

    2016-01-01

    Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient's HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing's syndrome (CS). PMID:27516913

  17. Development of automated detection of radiology reports citing adrenal findings

    NASA Astrophysics Data System (ADS)

    Zopf, Jason; Langer, Jessica; Boonn, William; Kim, Woojin; Zafar, Hanna

    2011-03-01

    Indeterminate incidental findings pose a challenge to both the radiologist and the ordering physician as their imaging appearance is potentially harmful but their clinical significance and optimal management is unknown. We seek to determine if it is possible to automate detection of adrenal nodules, an indeterminate incidental finding, on imaging examinations at our institution. Using PRESTO (Pathology-Radiology Enterprise Search tool), a newly developed search engine at our institution that mines dictated radiology reports, we searched for phrases used by attendings to describe incidental adrenal findings. Using these phrases as a guide, we designed a query that can be used with the PRESTO index. The results were refined using a modified version of NegEx to eliminate query terms that have been negated within the report text. In order to validate these findings we used an online random date generator to select two random weeks. We queried our RIS database for all reports created on those dates and manually reviewed each report to check for adrenal incidental findings. This survey produced a ground- truth dataset of reports citing adrenal incidental findings against which to compare query performance. We further reviewed the false positives and negatives identified by our validation study, in an attempt to improve the performance query. This algorithm is an important step towards automating the detection of incidental adrenal nodules on cross sectional imaging at our institution. Subsequently, this query can be combined with electronic medical record data searches to determine the clinical significance of these findings through resultant follow-up.

  18. Signaling Interactions in the Adrenal Cortex

    PubMed Central

    Spät, András; Hunyady, László; Szanda, Gergő

    2016-01-01

    The major physiological stimuli of aldosterone secretion are angiotensin II (AII) and extracellular K+, whereas cortisol production is primarily regulated by corticotropin (ACTH) in fasciculata cells. AII triggers Ca2+ release from internal stores that is followed by store-operated and voltage-dependent Ca2+ entry, whereas K+-evoked depolarization activates voltage-dependent Ca2+ channels. ACTH acts primarily through the formation of cAMP and subsequent protein phosphorylation by protein kinase A. Both Ca2+ and cAMP facilitate the transfer of cholesterol to mitochondrial inner membrane. The cytosolic Ca2+ signal is transferred into the mitochondrial matrix and enhances pyridine nucleotide reduction. Increased formation of NADH results in increased ATP production, whereas that of NADPH supports steroid production. In reality, the control of adrenocortical function is a lot more sophisticated with second messengers crosstalking and mutually modifying each other’s pathways. Cytosolic Ca2+ and cGMP are both capable of modifying cAMP metabolism, while cAMP may enhance Ca2+ release and voltage-activated Ca2+ channel activity. Besides, mitochondrial Ca2+ signal brings about cAMP formation within the organelle and this further enhances aldosterone production. Maintained aldosterone and cortisol secretion are optimized by the concurrent actions of Ca2+ and cAMP, as exemplified by the apparent synergism of Ca2+ influx (inducing cAMP formation) and Ca2+ release during response to AII. Thus, cross-actions of parallel signal transducing pathways are not mere intracellular curiosities but rather substantial phenomena, which fine-tune the biological response. Our review focuses on these functionally relevant interactions between the Ca2+ and the cyclic nucleotide signal transducing pathways hitherto described in the adrenal cortex. PMID:26973596

  19. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

    PubMed

    Peters, Tess; Perrier, Renee; Haber, Richard M

    2014-01-01

    Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.

  20. Left adrenal gland metastasis of breast invasive ductal carcinoma: A case report.

    PubMed

    He, Tao; Liu, Jiaju; Li, Yifan; Jin, L U; Sun, Shuolei; Ni, Liangchao; Mao, Xiangming; Yang, Shangqi; Lai, Yongqing

    2016-05-01

    The majority of the metastatic lesions of the adrenal gland normally originate from lung cancer, colon malignant tumor, renal cell carcinoma and melanoma. However, adrenal gland metastasis that metastasize from breast invasive ductal carcinoma are extremely rare. The present study reported a rare case of left adrenal gland metastasis in a 35-year-old female who was diagnosed as breast carcinoma 5 years ago with a mass located on the left adrenal gland, which was detected during a routine examination. The patient was asymptomatic and adrenal gland computed tomography revealed a mass in the left adrenal gland. Definitive preoperative diagnosis failed to be established. Left adrenal gland laparoscopic adrenalectomy was performed and the diagnosis of adrenal gland metastasis of breast invasive ductal carcinoma was confirmed by pathological and immunohistochemical examination. The patient remained in good condition by the time of writing.