OCULOCEREBRAL DYSGENESIS IN THE LINEAR NEVUS SEBACEOUS SYNDROME

Purpose: The authors document the association of peripapillary staphyl oma and an atypical variant of hemimegalencephaly with the linear nevu s sebaceous syndrome. Background: Linear nevus sebaceous syndrome is a n uncommon neurocutaneous disorder that has a propensity to involve th e 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 ab normalities included a corneal dermoid, a complex conjunctival chorist oma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of he mimegalencephaly characterized by hypoplasia of an optic radiation wit hin the enlarged, dysgenetic cerebral hemisphere. Conclusion: The spec trum of oculocerebral dysgenesis in the linear nevus sebaceous syndrom e can be expanded to include peripapillary staphyloma and atypical hem imegalencephaly with hypoplasia of an optic radiation.