Malta Maísa, AlMutiri Rowim, Martin Christine Saint, Srour Myriam
Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada.
Division of Child Neurology, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04024-002, Brazil.
Children (Basel). 2023 Mar 30;10(4):647. doi: 10.3390/children10040647.
Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) signaling is the main pathophysiologic mechanism underlying HPE. Aneuploidies, chromosomal copy number variants and monogenic disorders are identified in a large proportion of HPE patients. Despite the high postnatal mortality and the invariable presence of developmental delay, recent advances in diagnostic methods and improvements in patient management over the years have helped to increase survival rates. In this review, we provide an overview of the current knowledge related to HPE, and discuss the classification, clinical features, genetic and environmental etiologies and management.
前脑无裂畸形（HPE）是人类前脑最常见的畸形。其特征是由于前脑中线分裂失败导致一系列连续性的脑结构异常。HPE的三种经典亚型是无叶型、半叶型和叶型，不过在这个最初的分类基础上又增加了一些其他类别。临床表型的严重程度范围很广，通常与放射学特征及相关面部特征相符。HPE的病因包括环境因素和遗传因素。音猬因子（SHH）信号通路的破坏是HPE的主要病理生理机制。在很大一部分HPE患者中可发现非整倍体、染色体拷贝数变异和单基因疾病。尽管出生后死亡率很高且始终存在发育迟缓，但多年来诊断方法的最新进展和患者管理的改善有助于提高生存率。在本综述中，我们概述了与HPE相关的当前知识，并讨论了其分类、临床特征、遗传和环境病因以及管理。
