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 CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 3  |  Page : 288-290

Unusual cause of west syndrome


1 Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
3 Department Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Pratibha Singhi
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_24_17

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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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