Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood.
نویسندگان
چکیده
We report a man with longstanding undiagnosed adrenal insufficiency. At 37, our patient is the oldest reported case. Although most cases of Allgrove syndrome are diagnosed during childhood, awareness of this condition when undiagnosed in adults is crucial, as it is life threatening, and can severely affect neurological, sexual and psychological function.
منابع مشابه
Allgrove 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 کاملتظاهرات 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 کاملA Case Report of Allgrove Syndrome with Neurological Involvement
Allgrove syndrome is a very rare seen disorder with an autosomal recessive trait. The three characteristics of disease are alacrima, achalasia and adrenal failure. Alacrimia is the first manifestation in most cases. Achalasia and adrenal failure are seen later. Neurological involvement is rare and usually occurs in older age. A woman 22 years old admitted to our hospital with adrenal failure cr...
متن کاملAllgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease.
Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...
متن کاملSHORT REPORT Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease
Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Medical journal of Australia
دوره 180 2 شماره
صفحات -
تاریخ انتشار 2004