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一名复发性癫痫患儿的灰质肥大:病例报告。

Grey matter hypertropia in a child with recurrent seizure: A case report.

作者信息

Dhakal Natasha, Dahal Prajwal

机构信息

Manmohan Cardiothoracic Vascular and Transplant Center, Kathmandu, Nepal.

Department of Radiology and Imaging, Grande International Hospital, Kathmandu, Nepal.

出版信息

Radiol Case Rep. 2025 Jan 14;20(4):1807-1811. doi: 10.1016/j.radcr.2024.12.050. eCollection 2025 Apr.

Abstract

Heterotopia is a common anomaly of cortical development often associated with early-onset and familial epilepsy. Grey matter heterotopias are macroscopically classified into nodular and diffuse types and clinically categorized as subependymal, subcortical, or band heterotopia. They are frequently associated with other neurological conditions, such as corpus callosum agenesis, pachygyria, schizencephaly, polymicrogyria, Chiari II malformation, and basilar cephalocele. The clinical presentation varies depending on the thickness of the arrested neuronal band, ranging from partial complex and atypical absence epilepsy to normal cognitive function, developmental delay, or severe intellectual disability. Magnetic resonance imaging (MRI) is the preferred diagnostic modality, as it reveals the abnormally located heterotopic grey matter within the white matter. Carbamazepine is the most commonly prescribed antiepileptic drug, but its use depends on patient-specific factors such as tolerance, side effects, and efficacy. Here, we report the case of a 7-year-old male with a history of three seizure episodes over the past three years, initially diagnosed as febrile seizures with atypical focal features.

摘要

灰质异位是一种常见的皮质发育异常,常与早发性和家族性癫痫相关。灰质异位在宏观上分为结节型和弥漫型,在临床上分为室管膜下、皮质下或带状异位。它们常与其他神经系统疾病相关,如胼胝体发育不全、巨脑回、脑裂畸形、多小脑回、Chiari II畸形和基底脑膨出。临床表现因停滞的神经元带厚度而异,范围从部分复杂性和非典型失神癫痫到正常认知功能、发育迟缓或严重智力残疾。磁共振成像(MRI)是首选的诊断方式,因为它能显示白质内异位灰质的异常位置。卡马西平是最常用的抗癫痫药物,但其使用取决于患者的具体因素,如耐受性、副作用和疗效。在此,我们报告一例7岁男性病例,该患者在过去三年中有三次癫痫发作史,最初被诊断为具有非典型局灶特征的热性惊厥。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6119/11782804/2e3307861e14/gr1.jpg

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