Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome
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منابع مشابه
Alacrima 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 ...
متن کاملAllgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy.
Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gen...
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 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...
متن کاملEdentulous child with Allgrove syndrome: a rare case report
Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency co...
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ژورنال
عنوان ژورنال: American Journal of Case Reports
سال: 2016
ISSN: 1941-5923
DOI: 10.12659/ajcr.899546