Oculocerebral dysgenesis in the linear nevus sebaceous syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Brodsky
M C
MC
University of Arkansas for Medical Sciences, Little Rock, USA.
Kincannon
J M
JM
Nelson-Adesokan
P
P
Brown
H H
HH
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002828:Choristoma / Q000473:pathology*; D003230:Conjunctival Neoplasms / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D005153:Facial Neoplasms / Q000473:pathology*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009508:Nevus, Pigmented / Q000473:pathology*; D009898:Optic Disk / Q000473:pathology; D012627:Sebaceous Glands / Q000473:pathology*; D012871:Skin Diseases / Q000473:pathology; D013577:Syndrome