Achalasia of the cardia in childhood and the syndrome of achalasia alacrima and ACTH insensitivity

Abstract

Achalasia of the cardia is an uncommon condition with an incidence of 0.1 cases per year per 100,000 population under 14 years. A review of experience at Booth Hall Children's Hospital over the past 10 years has revealed six cases of achalasia in children. This includes two cases of the rare syndrome of achalasia, alacrima and ACTH insensitivity (also known as Triple A syndrome) and its variants. There are 23 previously reported cases of Triple A syndrome and a further eight cases of its variants reported in the world literature. One-third of these cases (10 out of 31) have associated neurological abnormalities. The clinical and radiological features of achalasia are reviewed. The importance of barium studies in making the diagnosis is emphasized. However, early cases may show only spasm or incoordination, and manometry is required to confirm the diagnosis in these equivocal cases. In this series only three of the six barium studies were diagnostic and the remainder were diagnosed by manometry; all cases were subsequently confirmed by histology. Delay in diagnosis may result in severe lung damage due to repeated aspiration; this occurred in one of the six cases and was the cause of the child's death.