Unusual Cause of West Syndrome

韦斯特综合征的罕见病因

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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.

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