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 |
가족성 자율신경실조증 (Riley-Day Syndrome) 1례 |
이홍진1, 진동규1, 양세원1, 서정기1, 문형로1, 지제근2 |
1서울대학교 의과대학 소아과학교실 2서울대학교 의과대학 병리학교실 |
Received: 9 September 1987 • Accepted: 26 November 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. |
Key Words:
Familial dysautonomia, Achalasia |
|