Allgrove Syndrome: A Case Report and Review of the Literature

Abstract

Allgrove syndrome, or Triple A syndrome, is a very rare autosomal recessive disorder with three key clinical features: achalasia, alacrima, and adrenal insufficiency. Around a third of patients present with additional features, such as neurological and autonomic manifestations (making it syndrome 4A). Alacrima usually appears in early childhood, while achalasia and adrenal insufficiency manifest later. In adulthood, the presentation is predominantly neurological, with autonomic impairment and polyneuropathy. We report the case of a 7-year-old female patient who consulted us with delayed weight gain and nutritional issues, alacrimia, and chronic vomiting since the age of 6 months. Clinical examination revealed malnutrition, with weight and BMI less than 3 standard deviations. Alacrima was confirmed by a positive Schirmer's test. Oesogastroduodenal transit, gastric fibroscopy, and manometry confirmed achalasia. In our case, there was no neurological involvement nor adrenal insufficiency. Treatment consisted of optimal managing of the manifestations of the disease.