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韦斯特综合征的罕见病因。

Unusual Cause of West Syndrome.

作者信息

Kasinathan Ananthanarayanan, Padmanabh Hansashree, Gupta Kirti, Sankhyan Naveen, Singh Paramjeet, Singhi Pratibha

机构信息

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Department of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

J Pediatr Neurosci. 2017 Jul-Sep;12(3):288-290. doi: 10.4103/jpn.JPN_24_17.

Abstract

Schimmelpenning-Feuerstein-Mims syndrome is a congenital neurocutaneous disorder, comprising of organoid epidermal nevus with a broad spectrum of multiorgan dysfunction (neurologic, skeletal, cardiovascular, ophthalmic, and urologic) secondary to postzygotic mutation in the early embryonic period. Predominant neurological manifestations include epilepsy, intellectual impairment, and focal deficits. Here, we report a 3-year-old girl who presented with epileptic spasms and had a characteristic linear sebaceous nevus. This report not only highlights the importance of early diagnosis of this condition but also emphasizes the need for multiorgan screening in children with seizures and nevi.

摘要

施密尔彭宁-费尔斯坦-米姆斯综合征是一种先天性神经皮肤疾病,由类器官表皮痣组成,并伴有广泛的多器官功能障碍(神经、骨骼、心血管、眼科和泌尿系统),这是由于胚胎早期合子后突变所致。主要的神经学表现包括癫痫、智力障碍和局灶性缺陷。在此,我们报告一名3岁女童,她出现癫痫性痉挛并伴有特征性的线状皮脂腺痣。本报告不仅强调了早期诊断这种疾病的重要性,还强调了对患有癫痫和痣的儿童进行多器官筛查的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea51/5696673/8d5da40991b8/JPN-12-288-g001.jpg

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