Allgrove syndrome.
نویسندگان
چکیده
Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.
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 (Triple A) Syndrome: A Case Report from the Kashmir Valley
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متن کاملAlacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome
BACKGROUND Allgrove syndrome, or triple "A" syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. CASE REPORT Here, the authors report a ...
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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 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...
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ورودعنوان ژورنال:
- Singapore medical journal
دوره 53 5 شماره
صفحات -
تاریخ انتشار 2012