Abstract：
Caseinolytic peptidase B homolog (CLPB) is a mitochondrial protein which is highly expressed in brain. Its deficiency may be associated with severe neonatal encephalopathy. This report describes a case of fatal neonatal encephalopathy associated with biallelic stop-gain mutation in CLPB (NM_001258392.3:c.1159C>T/p.Arg387*). Neurologic disorder encompasses pre- and post-natal features including polyhydramnios, intrauterine growth restriction, respiratory insufficiency, lethargy, excessive startle reflex, generalized hypertonia, and epileptic seizures. Brain macroscopic examination demonstrates frontal severe periventricular cystic leukoencephalopathy, along with mild ex-vacuo tri-ventricular dilatation. The most striking immunohistopathologic features are striato-thalamic neurodegeneration and deep white matter loss associated with strong reactive astrogliosis. This report supports that CLPB deficiency should be considered among the neurometabolic disorders associated with severe prenatal-onset neurologic impairment that may result from cystic leukoencephalopathy.
摘要：
酪蛋白分解肽酶B同源物(CLPB)是在脑中高表达的线粒体蛋白。其缺乏可能与严重的新生儿脑病有关。本报告描述了一例与CLPB双等位基因停止增益突变相关的致命性新生儿脑病（NM_001258392.3：c.159C>T/p。Arg387*).神经系统疾病包括产前和产后特征，包括羊水过多，宫内生长受限,呼吸功能不全,嗜睡,过度的惊吓反射,全身性高张力症,和癫痫发作。脑宏观检查显示额叶重度脑室周围囊性白质脑病，伴随着轻度的前真空三室扩张。最显著的免疫组织病理学特征是与强反应性星形胶质增生相关的纹状体-丘脑神经变性和深层白质损失。该报告支持，CLPB缺乏应考虑与可能由囊性白质脑病引起的严重产前神经系统损害相关的神经代谢紊乱。
