The triple association of achalasia, alacrimia and adrenal insufficiency characterizes the Allgrove syndrome (AS, OMIM 231550), also known as the triple A syndrome [
1‐
3]. The more recent recognition of a fourth component - autonomic dysfunction, in association with motor neuropathy, sensory disorder, mental retardation and similar neurologic diseases, has given rise to the term “4 A syndrome” [
4,
5]. AS is a progressive disorder with various clinical manifestations The syndrome usually occurs in the first decade of life but cases of late onset in adulthood have been reported [
6]. The
AAAS gene is located on chromosome 12q13 and encodes the ALADIN protein (alacrima, achalasia, adrenal insufficiency and neurological disorder) [
7]. The pathogenic gene has a ubiquitous expression in the human tissues with a particularly high expression in the adrenal gland, gastrointestinal tract and brain [
8]. AS has been reported from different parts of the world. The c.1331 + 1G > A mutation is one of the most common mutations described in the literature particularly in North Africa, having been identified in Tunisian, Algerian and Libyan populations recently [
9]. According to an extensive literature review and to the best of our knowledge, we describe here the first case of an
AAAS gene mutation, namely the c.1331 + 1G > A genotype, to be reported in Morocco.