형제간에 발생한 히르쉬스프룽병

Abstract

Hirschsprung’s disease (HD) is one of the major pediatric gastrointestinal disease entities which is associated with an absence or lack of intrinsic ganglion cells in the myenteric and submucosal plexus in the gastrointestinal tract. It is commonly assumed to be a sex-modified multifactorial trait. The development of diagnostic and therapeutic modalities has been ongoing. Herein, we experienced two siblings who were confirmed as having HD histologically and were treated. We think further family evaluation regarding HD is needed. Also we could see a changing modality of diagnosis and treatment.