瓦登伯格-沙阿综合征（IV型瓦登伯格综合征）：来自巴基斯坦的一例罕见病例。
Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.
作者信息
Khan Taimoor Ashraf, Safdar C Aqeel, Zameer Shehryar, Khushdil Arshad
机构信息
National University of Medical Sciences, Rawalpindi, Pakistan.
出版信息
Perioper Med (Lond). 2020 Jan 24;9:4. doi: 10.1186/s13741-019-0135-x. eCollection 2020.
Abstract
Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung's disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal of the aganglionic segment of the colon. Here, we report a neonate that presented with a white forelock, white eyelashes, iris hypopigmentation, and sensorineural deafness associated with bilious vomiting, refusal to feed, and failure to pass meconium indicating intestinal obstruction.
摘要
瓦登伯革-沙阿综合征是一种罕见的常染色体隐性遗传疾病，其特征是患有先天性巨结肠症，极有可能发展为无神经节性巨结肠，因此死亡率很高。该病症的治疗包括手术切除结肠的无神经节段。在此，我们报告一例新生儿，其表现为白色额发、白色睫毛、虹膜色素减退以及感音神经性耳聋，同时伴有胆汁性呕吐、拒食和胎粪排出延迟，提示肠梗阻。
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