소아의 Triple A 증후군의 변형 1례

A Case of Triple A Syndrome

반복되는 구토로 인한 폐렴 증세로 내원하여 분문무이완증, 무루증, 신경인성방광 등의 소견을 보여 Triple A 증후군으로 진단받고, 식도하부 괄약근의 반복 확장술(pneumatic dilatation)로 증상이 소실된 환아 1례를 경험하였기에 이에 보고하는 바이다.

Achalasia is very uncommon in children, and cases accompanied with alacrima and adrenal insufficiency is even more uncommon. When these three disorders are seen altogether, it is called triple A syndrome. It is inherited in an autosomal recessive manner and has potentially life-threatening sequelae. So, pediatricians should always consider the possibility of triple A syndrome when seeing children with achalasia. Neurological abnormalities such as autonomic neuropathy, peripheral neuropathy, sensory impairment and mental retardation occasionally accompany. We report a 2-year-old girl who presented with repeated vomiting, short stature and alacrima. Diagnosis of achalasia was made after perfoming esophagogram and endoscopy and was confirmed with esophageal manometry. After pneumatic dilatation, she became asymptomatic.