Journal List > Korean J Pediatr Gastroenterol Nutr > v.3(2) > 1110549

Korean J Pediatr Gastroenterol Nutr. 2000 Sep;3(2):188-194. Korean.
Published online Sep 30, 2000.  https://doi.org/10.5223/kjpgn.2000.3.2.188
Copyright © 2000 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
A Case of Triple A Syndrome
Jae Hyuk Han, Jee Hyung Yoo, Chang Han Lee,1 and Ki Sup Chung
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
1Department of Pediatrics, Pundang CHA Hospital, College of Medicine, Pochon CHA University, Sungnam, Korea.
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.

Keywords: Achalasia; Alacrima; Adrenal insufficiency