Ludwig Maximilian University of Munich, Munich, Germany.
Munich Hospital Bogenhausen, Hospital for Gastroenterology, Hepatology and Gastroenterological Oncology, Munich, Germany.
Neuropediatrics. 2020 Feb;51(1):49-52. doi: 10.1055/s-0039-1694976. Epub 2019 Sep 21.
Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ () might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.
尼科莱德斯-巴赖特综合征（NCBRS）是一种由基因突变引起的罕见疾病。临床特征包括颅面畸形和肢体异常，以及智力障碍和常伴有癫痫。丙戊酸（VPA）治疗的罕见并发症是肝毒性，聚合酶γ（）的突变可能导致肝毒性的敏感性更高。我们报告了一例同时患有两种罕见疾病的患者，即 NCBRS 和 突变合并肝毒性。借助文献复习，讨论了儿童中两种不同遗传疾病的同时发生。
