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一名东非儿童的无脑回畸形伴皮质下带状异位:病例报告。

Lissencephaly with subcortical band heterotopia in an East African child: A case report.

作者信息

Ngowi Elisamia, Datoo Adil, Ally Pilly, Salum Hajaj, Edward Kija

机构信息

Department of Paediatrics and Child Health, Aga Khan Hospital Tanzania, Dar Es Salaam, Tanzania.

Department of Paediatrics and Child Health, Aga Khan University, Dar Es Salaam, Tanzania.

出版信息

Radiol Case Rep. 2024 Oct 31;20(1):480-483. doi: 10.1016/j.radcr.2024.10.067. eCollection 2025 Jan.

Abstract

Lissencephaly is a rare neuronal migration defect that results in a smooth cerebral surface, mental retardation, and seizures. It is diagnosed primarily by correlating clinical manifestations with MRI findings. We present a case of a 3-year-old girl with developmental delay and seizures. Her first seizure was at 14 months and MRI showed features of lissencephaly and subcortical band heterotopia. Lissencephaly is associated with gene mutations. Treatment focuses on antiseizure meds and physiotherapy to reduce seizures and improve motor skills. This case report highlights the importance of promptly diagnosing the LIS/SBH spectrum to enhance patient outcomes. Timely identification and treatment, such as physiotherapy, can significantly improve the quality of life, especially in resource-limited settings.

摘要

无脑回畸形是一种罕见的神经元迁移缺陷,会导致脑表面平滑、智力发育迟缓及癫痫发作。其主要通过将临床表现与磁共振成像(MRI)结果相关联来进行诊断。我们报告一例3岁发育迟缓并伴有癫痫发作的女童病例。她首次癫痫发作于14个月大时,MRI显示有无脑回畸形和皮质下带状异位的特征。无脑回畸形与基因突变有关。治疗重点在于使用抗癫痫药物和进行物理治疗,以减少癫痫发作并提高运动技能。本病例报告强调了及时诊断LIS/SBH谱系对于改善患者预后的重要性。及时识别并进行治疗,如物理治疗,可显著提高生活质量,尤其是在资源有限的环境中。

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