https://scholars.lib.ntu.edu.tw/handle/123456789/194668
標題: | Concomitant Existence of Total Bowel Aganglionosis and Congenital Central Hypoventilation Syndrome in a Neonate with Phox2b Gene Mutation | 作者: | YANG, SAN-NAN HSU, YUNG-MING HAUNG, HSIN-CHUN LEE, SHIN-YI HSIEH, WU-SHIUN SU, YI-NING LIU, CHIEH-AN |
關鍵字: | congenital central hypoventilation syndrome;Hirschsprung's disease;total colonic aganglionosis with small bowel involvement;PHOX2B gene mutation | 公開日期: | 2007 | 卷: | v.42 | 期: | n.3 | 起(迄)頁: | ART-N | 來源出版物: | JOURNAL OF PEDIATRIC SURGERY | 摘要: | Hirschsprung's disease (HSCR) is characterized by the absence of intramural ganglion cells in the distal gut, resulting in bowel obstruction shortly after birth. Congenital central hypoventilation syndrome (CCHS) results in hypoventilation, most pronounced during sleep, with relative insensitivity to hypercarbia and reduced insensitivity to hypoxia. Congenital central hypoventilation syndrome with HSCR is a rare condition with variable severity. Both CCHS and HSCR are uncommon and their co- occurrence may suggest a common etiology, probably involving a fault of neural crest development. Recent reports have identified the paired-like homeobox 2B (PHOX2B) gene as the major gene for CCHS and HSCR. We report here an identified PHOX2B gene in a newborn baby who had concurrence of CCHS and total colonic aganglionosis with proximal small bowel involvement. Management of this rare disorder is challenging not only because it presents in newborn stage but also because it has extensive HSCR. Considering the issue of medical futility, the therapeutic and ethical dilernma of this infant was discussed. (c) 2007 Elsevier Inc. All rights reserved. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/88784 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。