一名东非儿童的无脑畸形伴皮质下带异位:病例报告

Q4 Medicine Radiology Case Reports Pub Date : 2024-10-31 DOI:10.1016/j.radcr.2024.10.067
Elisamia Ngowi , Adil Datoo , Pilly Ally , Hajaj Salum , Kija Edward
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引用次数: 0

摘要

无脑畸形是一种罕见的神经元迁移缺陷,会导致大脑表面光滑、智力迟钝和癫痫发作。诊断的主要依据是临床表现与核磁共振成像结果的相关性。我们报告了一例发育迟缓并伴有癫痫发作的 3 岁女孩。她第一次癫痫发作是在 14 个月大的时候,核磁共振成像显示出裂脑症和皮层下带异位症的特征。裂脑症与基因突变有关。治疗的重点是服用抗癫痫药物和物理治疗,以减少癫痫发作和改善运动技能。本病例报告强调了及时诊断 LIS/SBH 光谱以提高患者预后的重要性。及时发现和治疗(如物理治疗)可显著改善患者的生活质量,尤其是在资源有限的环境中。
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Lissencephaly with subcortical band heterotopia in an East African child: A case report
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.
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来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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