1型综合征婴儿患先天性巨结肠症：1例新病例及一种新变异型的报告
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel variant.
作者信息
Gauntner Timothy D, Karumuri Manasa, Guzman Miguel A, Starnes Sara E, Besmer Sherri, Pinz Hailey, Braddock Stephen R, Andreone Teresa L
机构信息
Department of Medicine University of Minnesota Minneapolis MN USA.
Department of Pediatrics Saint Louis University School of Medicine St. Louis MO USA.
出版信息
Clin Case Rep. 2021 Feb 4;9(3):1518-1523. doi: 10.1002/ccr3.3816. eCollection 2021 Mar.
L1syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the gene thought to underlie both. We present a novel pathogenic variant in someone with L1 syndrome and Hirschsprung disease.
L1综合征是一种X连锁疾病，表现为先天性脑积水、拇指内收和痉挛。L1综合征与先天性巨结肠病同时发生的病例罕见，人们认为这两种疾病背后存在相同基因的突变。我们报告了一名患有L1综合征和先天性巨结肠病患者的一种新的致病变异。
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