CLPB缺乏相关新生儿空化性白质脑病:神经系统疾病的潜在病理机制。

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-03-01 Epub Date: 2023-10-30 DOI:10.1177/10935266231204785
Sihem Darouich, Samia Darouich, Dorsaf Gtari, Houda Bellamine
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引用次数: 0

摘要

酪蛋白水解肽酶B同源物(CLPB)是一种在大脑中高度表达的线粒体蛋白。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新生儿脑病(NM_001258392.3:c.1159C>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、过度惊跳反射、全身性高渗和癫痫发作。脑部宏观检查显示额部严重的室周囊性白质脑病,伴有轻度的三脑室扩张。最显著的免疫组织病理学特征是纹状体丘脑神经退行性变和与强烈反应性星形胶质细胞增生相关的深白质损失。本报告支持,CLPB缺乏症应被视为与囊性白质脑病引起的严重产前神经损伤相关的神经代谢紊乱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder.

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.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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