Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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A Case of Triple A Syndrome

소아의 Triple A 증후군의 변형 1례

  • Han, Jae-Hyuk (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Yoo, Jee-Hyung (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Lee, Chang-Han (Department of Pediatrics, Pundang CHA Hospital, College of Medicine, Pochon CHA University) ;
  • Chung, Ki-Sup (Department of Pediatrics, Yonsei University College of Medicine)
  • 한재혁 (연세의대 소아과학교실) ;
  • 유지형 (연세의대 소아과학교실) ;
  • 이창한 (포천중문의대 소아과학교실) ;
  • 정기섭 (연세의대 소아과학교실)
  • Received : 2000.09.05
  • Accepted : 2000.09.20
  • Published : 2000.09.30
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Abstract

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.

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.

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