All issues > Volume 31(5); 1988

Original Article

J Korean Pediatr Soc. 1988;31(5):648-654. Published online May 31, 1988.

A Case of Familial Dysautonomia.

Hong Jin Lee¹, Dong Kyu Jin¹, Sei Won Yang¹, Jeong Kee Seo¹, Hyung Ro Moon¹, Je Geun Chi²

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
²Department of Pathology, College of Medicine, Seoul National University, Seoul, Korea

Received: September 9, 1987;  Accepted: November 26, 1987.

Abstract

Few documented cases of Familial dysautonomia fulfilling current diagnostic criteria have been recognized in non-Jews especially in orientals. In our case diagnosis was established in 8 year old Korean girl. She fulfilled 8 out of 9 essential diagnostic criteria of Riley. It represents a report of this syndrome with achalasia and improved with modified Heller’s myotomy.

Keywords :Familial dysautonomia, Achalasia