Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production.
نویسندگان
چکیده
Primary adrenal insufficiency is an uncommon disease which has worldwide distribution. The commonest cause in underdeveloped countries is tuberculosis followed by autoimmune destruction of the adrenal gland. We report a case of a 15 years boy who had congenital adrenal insufficiency associated with achalasia of the cardia and deficient tear secretion.
منابع مشابه
تظاهرات سندرم آلگرو (Allgrove Syndrome) بدنبال اسهال و استفراغ
Allgrove (AAA) syndrome or familial glucocorticoid deficiency or Tripple A Syndrome is a rare genetic disorder with transmitted autosomal recessive. Allgrove and colleagues first described this syndrome in 1978. Allgrove Syndrome characterized by Adrenal insufficiency, Alacrima and Achalasia. Neurological and dermatological findings may be presented in some patients. Hyperpigmentation and A...
متن کاملAllgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia.
BACKGROUND Triple A or Allgrove Syndrome (OMIM#231550) is a rare, autosomal recessive genetic disorder in which patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid protein named al...
متن کاملPremature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families
BACKGROUND Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. CASE(S) PRESENTATION We present various manifestations of this syndrome in two related families each with two affected siblings...
متن کاملAllgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley
Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. Since its first description by Allgrove in 1978, approximately 100 cases have been reported in the literatu...
متن کاملLate onset adrenal insufficiency and achalasia in Allgrove syndrome.
To cite: Thomas J, Subramanyam S, Vijayaraghavan S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208900 DESCRIPTION A 26-year-old man presented with progressive difficulty in swallowing for 2 years and increased skin pigmentation for 1 year. This was associated with a loss of weight despite a preserved appetite. He had a lack of tears since childhood...
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عنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 51 شماره
صفحات -
تاریخ انتشار 2003