Triple Trouble: Early Clues in the Diagnosis of Allgrove Syndrome: A Case Report

Allgrove syndrome (also known as Triple A syndrome) is an inherited autosomal recessive condition, characterised by achalasia, alacrima and adrenal insufficiency. Its rarity and high phenotypic heterogeneity mean that it often poses a diagnostic challenge.

We discuss the case of a previously well 5-year-old who presented with adrenal crisis. The R150 genetic panel showed a mutation in the achalasia-addisonianism-alacrima syndrome (AAAS) gene, confirming a diagnosis of Allgrove syndrome. It was noted in retrospect that his earliest presenting feature was alacrima, which was noted by parents in the neonatal period but not investigated. He was started on glucocorticoid replacement and is under regular paediatric endocrine outpatient follow-up.

If our patient's alacrima had come to medical attention and Allgrove syndrome been diagnosed earlier, then the subsequent adrenal crisis could probably have been avoided, as regular monitoring of the adrenal axis would have been undertaken.