ABSTRACT
PURPOSE: Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndromes characterized by unilateral scalp and facial lesions and multiple anomalies involving the eye and central nervous system. To our knowledge, this is the first case reported in Korea. METHODS: A 19-month-old girl was referred to our clinic for evaluation of right-sided multiple facial masses and ocular disorders. RESULTS: Physical examination showed large lipomatous masses on the scalp with overlying alopecia. There were also multiple skin tags in the right periocular area and defects of the right lid margin and lateral canthus. Other ocular anomalies included epibulbar lipodermoid, corneal opacity, iris coloboma and localized hypopigmentation of the retinal pigment epithelium. Brain MRI demonstrated multiple abnormalities that were consistent with lipomas and leptomeningeal angiomatosis. We removed the scalp lipoma and the epibulbar lipodermoid and reconstructed the lateral canthus. CONCLUSIONS: In the case of suspected ECCL, it is essential to differentiate from other syndromes which present with epibulbar choristoma. Neuroimaging such as CT or MRI and pathologic study may be helpful.