10例新生儿鱼鳞病和硬化性胆管炎综合征的神经发育症状评估

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.

作者信息

Salik Deborah, Hadj-Rabia Smail, Hohl Daniel, Vahidnezhad Hassan, Youssefian Leila, Rakosi Adèle, Dangoisse Chantal, Marangoni Martina, Vilain Catheline, Smits Guillaume

机构信息

Department of Dermatology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Paris, France.

出版信息

Pediatr Dermatol. 2022 Jul;39(4):590-593. doi: 10.1111/pde.14976. Epub 2022 Mar 18.

DOI:10.1111/pde.14976

PMID:35304779

Abstract

Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan» c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.

摘要

新生儿鱼鳞病和硬化性胆管炎（NISCH）综合征是一种极为罕见的病症，文献中仅描述了19例患者。我们报告了一个患有该疾病的大家庭，并研究了神经发育症状之间的关联。携带CLDN1基因突变的患者，特别是“摩洛哥型”c.200_201delTT缺失突变的患者，出现学习障碍、智力迟钝和语言发育迟缓等神经发育症状的风险可能会增加。