title: Bilateral ocular involvement in encephalocraniocutaneous lipomatosis.
abstract: We report a case of encephalocraniocutaneous lipomatosis (ECCL), a rare congenital neurocutaneous syndrome, with cutaneous, ocular and neurologic malformations. The key features of ECCL are epibulbar choristomas, nevus psiloliparus, and intracranial lipomas. A full-term newborn presented at birth bilateral conjunctival tumours, right facial papulonodular lesions and an alopecic lesion consistent with lipoma on the right frontoparietal area. Brain imaging studies showed arachnoid cyst, enlarged lateral ventricle, cortical dysplasia, lipoma and leptomeningeal angiomatosis in the right hemisphere. The results were consistent with ECCL. Since ocular and skin involvement is a hallmark of the condition, children with epibulbar congenital lesions and skin lesions suggestive for ECCL should undergo a brain imaging study.
authors.affiliation: Service of Ophthalmology, University Hospital of Santiago de Compostela, Santiago de Compostela, Spain.
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Valladares
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Blanco
authors.forename: Fernando
authors.initials: F
authors.lastname: Lopez-Lopez
authors.forename: Francisco
authors.initials: F
authors.lastname: Gonzalez
mesh_terms: D005128:Eye Diseases / Q000209:etiology*; D007839:Functional Laterality; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000150:complications*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications*