Two siblings with triple A syndrome

Abstract

Triple A syndrome is a rare autosomal recessive disorder presenting as adrenal insufficiency, achalasia and alacrima, often accompanied by neurological complications. We present the cases of two siblings, a girl (patient 1) and a boy (patient 2) in their early adolescence, born from a consanguineous marriage. At the age of 4, patient 1 developed progressive dysphagia when consuming both solid and liquid foods, while patient 2 began displaying abnormal gait by 2 years. Both siblings were confirmed to have alacrima and achalasia. Endocrinological assessments unveiled adrenal insufficiency and resistance to adrenocorticotropin hormone, and genetic analysis revealed a homozygous pathogenic variant of the achalasia-adrenal insufficiency-alacrima syndrome gene. Clinical suspicion of triple A syndrome and early investigation on onset of alacrima are essential for prompt diagnosis and management.