Department of Internal Medicine, Tameside General Hospital, Ashton-under-Lyne, Tameside, UK.
Radiology department, University of Khartoum, Khartoum, Sudan.
BMJ Case Rep. 2020 Sep 14;13(9):e235004. doi: 10.1136/bcr-2020-235004.
Schizencephaly is a rare central nervous system (CNS) malformation secondary to neuronal migration defects. The pathogenesis is complex and is secondary to environmental and genetic factors. Clinically, the majority of patients present with varying degrees of motor and psychological disturbances. Imaging plays a cornerstone in the diagnosis by identifying the characteristic lesional features and recognising other associated abnormalities such as an absent septum pellucidum and corpus callosum dysgenesis. Here, we present a male paediatric case who presented with an interestingly asymptomatic unilateral right closed-lip schizencephaly and review the aetiology, clinical presentation and imaging characteristics of the disease and associated literature.
脑裂畸形是一种罕见的中枢神经系统(CNS)畸形,继发于神经元移行缺陷。其发病机制复杂,与环境和遗传因素有关。临床上,大多数患者表现出不同程度的运动和心理障碍。影像学通过识别特征性病变特征,并识别其他相关异常,如透明隔缺失和胼胝体发育不良,在诊断中起着基石作用。在此,我们介绍了一例表现为单侧右侧闭合性唇裂畸形的无症状男性儿科病例,并回顾了该病的病因、临床表现、影像学特征及相关文献。