Triple-A syndrome: A rare cause of addisonian pigmentation

Abstract

Triple-A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder classically described with the triad of alacramia, achalasia, and ACTH-resistant adrenal insufficiency. Very few cases have been reported so far in the literature. Rarity leads to misdiagnosis. Phenotypic heterogeneity further adds to the confusion as classical triads are not constantly present in each and every case. The presence of additional autonomic disturbances in some cases brings about the proposal of the name 4A syndrome instead of 3A syndrome. Basic defect is mutation of achalasia, adrenocortical insufficiency, and alacramia syndrome gene. The entity needs multidisciplinary approach including endocrinologist, pediatrician, dermatologist, and ophthalmologist for best possible outcome. Although there is no definitive treatment, early diagnosis is extremely important to save life and prevent neurological sequel from adrenal crisis, to avoid unnecessary investigations and inappropriate treatment, and to improve quality of life. We report a 13-year-old boy with triple-A syndrome diagnosed clinically presented with repeated episodes of seizure, Addisonian pigmentation, the absence of tear, and difficulty of swallowing.

Keywords

• absence of tear
• addisonian pigmentation
• achalasia cardia