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Case Reports
. 2017 Jul-Sep;12(3):288-290.
doi: 10.4103/jpn.JPN_24_17.

Unusual Cause of West Syndrome

Ananthanarayanan Kasinathan  1 , Hansashree Padmanabh  1 , Kirti Gupta  2 , Naveen Sankhyan  1 , Paramjeet Singh  3 , Pratibha Singhi  1
Affiliations
Case Reports

Unusual Cause of West Syndrome

Ananthanarayanan Kasinathan et al. J Pediatr Neurosci. 2017 Jul-Sep.

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.

Keywords: Linear sebaceous nevus; Schimmelpenning; quadrantic hemimegalencephaly.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
The golden brown, hairless, linear sebaceous nevi on the forehead extending to the nose in the midline (a). A plaque-like lesion in occipital area of scalp (b) and two elevated patches on the tongue (c) are also seen
Figure 2
Figure 2
Axial T1 (a) and T2 (b) section of the brain show posterior quadrantic hemimegalencephaly of the left temporooccipital region with gyral thickening at the expense of deep white matter
Figure 3
Figure 3
(a) Nevus sebaceous characterized by hyperkeratotic epidermis with focal papillomatosis (H and E, ×100); (b) clusters of mature and nearly mature sebaceous glands within the dermis (H and E, ×200); (c) high magnification of cluster of sebaceous glands around hair follicle (H and E, ×400)
See this image and copyright information in PMC

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