A Case of Triple A Syndrome
10.5223/kjpgn.2000.3.2.188
- Author:
Jae Hyuk HAN
1
;
Jee Hyung YOO
;
Chang Han LEE
;
Ki Sup CHUNG
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Achalasia;
Alacrima;
Adrenal insufficiency
- MeSH:
Adrenal Insufficiency;
Child;
Child, Preschool;
Diagnosis;
Dilatation;
Endoscopy;
Esophageal Achalasia;
Female;
Humans;
Intellectual Disability;
Manometry;
Peripheral Nervous System Diseases;
Vomiting
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2000;3(2):188-194
- CountryRepublic of Korea
- Language:Korean
-
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.
