OCULAR AND SYSTEMIC MANIFESTATIONS OF ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous sy ndrome with epibulbar choristomas and connective tissue nevi of the ey elids as common ophthalmic manifestations. Systemic manifestations occ ur ipsilateral to the ocular lesions and include lipomas of the craniu m and central nervous system, alopecia of the scalp, and abnormalities of the central nervous system. We treated a child with encephalocrani ocutaneous lipomatosis who required removal of an epibulbar choristoma . Pathologic evaluation of the epibulbar choristoma in our patient sho wed the presence of ectopic lacrimal gland tissue and cartilage. Encep halocraniocutaneous lipomatosis should be considered, together with Go ldenhar's syndrome and sebaceous nevus syndrome, in the differential d iagnosis of conditions associated with epibulbar choristomas.