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A Case of Familial Dysautonomia.

Journal of the Korean Pediatric Society 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
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
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

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