Endocrine Abstracts

Introduction: Allgrove syndrome (AS) or 3A syndrome (AAA) is characterized by a triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, alacrimia, and achalasia along with progressive neurological impairment with or without mild mental retardation. Sometimes known as 4A syndrome, if it also involves autonomic dysfunction. The molecular basis for Allgrove syndrome appears to be an autosomal recessive pattern of inheritance Having only two clinical features also strongly suggests Allgrove syndrome.

Case: Here we present a case of a male child with first-degree consanguineous parents who presented to the healthcare setting several times due to vomiting and poor weight gain. Mum reported vomiting most of the feeds, and vomiting has been getting worse since starting weaning food. A trial of feeds thickener, domperidone and omeprazole had little effect. Child’s weight dropped to below 0.4th centile. The mother also mentioned observing that he cries without tears. An ophthalmological exam was arranged, which was reported as normal. An upper GI contrast study was done that showed oesophageal achalasia. A detailed workup showed low early-morning cortisol levels. An SST confirmed the diagnosis of adrenal insufficiency. He was started on oral hydrocortisone for and was referred to a Paediatric surgeon. Genetic testing could not be performed due to financial constraints. He had balloon dilatation and myotomy done for achalasia. He had mild mental retardation and developmental delay.

Discussion: The clinical presentation AAA syndrome depends on the patient’s age. Ophthalmological abnormalities are usually present at birth, whereas adrenal and gastrointestinal abnormalities typically appear after the first six months to the first decade of life. Many of the patients with AAA syndrome are diagnosed in childhood, but its presentation varies. Alacrimia is usually the first sign present at birth. Prompt treatment is necessary for adrenal insufficiency. Prompt surgical referral to treat Achalasia is important. Allgrove’s syndrome may be an underdiagnosed disorder, and a high index of suspicion is needed when patients present with such complex symptoms at variable stages, i.e. failure to thrive, dysphagia, crying and alacrimia.