Abstract 134: Clinical profile of AAA syndrome a case series: A retrospective study

Abstract

Background: AAA syndrome is a rare cause of primary adrenal insufficiency associated with alacrimia, achalasia and neurological dysfunction. The existing literature consists mostly of case series. Here we describe the series of cases who presented to our hospital.Aims and Objectives: To describe the clinical charecteristics of patients with AAA syndrome.Results: A total 8 cases were analysed. Median age of presentation was 4.5 years. Alacrima, achalasia, adrenal insuffciency were present in 8,7, and 5 patients respectively. 4 patients presented with achalasia and 4 with adrenal insufficiency. None of the patients had salt wasting. 3 out of 8 patients had neurological signs and 6 out of 8 patients had autonomic dysfunction. Associated primary hypothyroidism, developmental delay, skin conditions were seen in 3/8, 3/8, and 2/8 of total patients respectively. Genetic evaluation was done in 7 patients and two showed homozygous mutations, one of which was novel. Genetic evaluation pending in one patient.Conclusion: We present here the retrospective data showing the the clinical charecteristics of patients with AAA syndrome.