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脑裂畸形:成人迟发性癫痫的罕见病因。

Schizencephaly: A rare cause of late-onset epilepsy in an adult.

作者信息

Laasri Khadija, Naggar Amine, El Houss Salma, Halfi Mohamed Ismail, Taoursa Firdaous, Kettani Najwa Ech-Cherif, Jiddane Mohamed, Fikri Meryem

机构信息

Neuroradiology Department, Ibn Sina University Hospital, Mohamed V University, Rabat, Morocco.

出版信息

Radiol Case Rep. 2023 Aug 25;18(11):3861-3864. doi: 10.1016/j.radcr.2023.08.014. eCollection 2023 Nov.

Abstract

Schizencephaly, a rare congenital cerebral deformity that affects the cerebral mantle and is caused by both hereditary and acquired factors, is defined by a cleft that spans the entire cerebral hemisphere from the lateral ventricle to the cerebral cortex. Adult symptoms have only been described in a few cases in the literature. Hemiparesis, developmental delays, or seizures are manifestations of the clinical presentation, which is dependent on the size and location of the lesion. Neuroimaging investigations, particularly MRI, enable the diagnosis and rule out other causes. Usually discovered at birth, this entity begins to show up in the first several years. To prevent receiving the wrong treatment, the ailment must be correctly diagnosed. We report the observation of a 43-year-old patient with partial epileptic seizures but with an asymptomatic childhood, in relation to unilateral closed cleft schizencephaly associated with gray matter heterotopia. In this case, we highlight the importance of neuroimaging, in particular MRI on the diagnosis of this entity and to identify the associated anomalies.

摘要

脑裂畸形是一种罕见的先天性脑畸形,影响大脑皮质,由遗传和后天因素引起,其定义为从侧脑室到大脑皮质贯穿整个脑半球的裂隙。文献中仅在少数病例中描述过成人症状。偏瘫、发育迟缓或癫痫发作是临床表现,这取决于病变的大小和位置。神经影像学检查,尤其是磁共振成像(MRI),有助于诊断并排除其他病因。这种疾病通常在出生时就被发现,最初几年开始显现。为避免接受错误治疗,必须正确诊断该疾病。我们报告了一名43岁患者的观察结果,该患者有部分癫痫发作,但童年无症状,与单侧闭合性脑裂畸形合并灰质异位有关。在这个病例中,我们强调了神经影像学,尤其是MRI在诊断该疾病以及识别相关异常方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fbdd/10475399/ba2bff362715/gr1.jpg

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