Oculocerebral dysgenesis in the linear nevus sebaceous syndrome
M C Brodsky1, J M Kincannon, P Nelson-Adesokan
1University of Arkansas for Medical Sciences, Little Rock, USA.
Purpose:
The authors document the association of peripapillary staphyloma and an atypical variant of hemimegalencephaly with the linear nevus sebaceous syndrome.
Background:
Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder that has a propensity to involve the eyes.
Methods:
Clinical, histopathologic, and neuroimaging findings are examined in a child with linear nevus sebaceous syndrome.
Results:
In addition to bilateral peripapillary staphylomas, ophthalmologic abnormalities included a corneal dermoid, a complex conjunctival choristoma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of hemimegalencephaly characterized by hypoplasia of an optic radiation within the enlarged, dysgenetic cerebral hemisphere.
Conclusion:
The spectrum of oculocerebral dysgenesis in the linear nevus sebaceous syndrome can be expanded to include peripapillary staphyloma and atypical hemimegalencephaly with hypoplasia of an optic radiation.
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