Case Report: First case of Triple A syndrome diagnosed in French Guiana: clinical presentation, molecular confirmation, and literature review

Abstract

Triple A syndrome (OMIM #231550) is a rare autosomal recessive disorder defined by the triad of alacrima, adrenal insufficiency, and achalasia. Around 100 to 150 cases have been reported in the world literature since 1978. We report the first case diagnosed in French Guiana, in a 5-year-old boy who presented with severe hypoglycemic episodes. Exome sequencing identified a homozygous pathogenic variant in the AAAS gene (NM_015665.6:c.43C > A, p.Gln15Lys — ACMG Class 5). Family testing confirmed heterozygous carrier status in both parents, while the younger brother was found to be homozygous wild-type and unaffected. The clinical course under hydrocortisone replacement has been favorable. A literature review and comparative analysis are presented to place this case in context and to highlight the phenotypic and molecular variability of the syndrome.