Encephalocraniocutaneous lipomatosis. Case report and review of the literature

Encephalocraniocutaneous lipomatosis is a congenital disorder characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. Distinguishing histopathologic features are dysgenesis and neoplasia of the adipose tissue. A Caucasian boy had soft tumors and elastic papules on his head since birth, associated with atrophic areas, and a bilobed lesion on the upper right eyelid. On the bulbar conjunctiva of the right eye, an oval 6-mm lesion was present. Ultrasonogram, computerized tomographic scan, and magnetic resonance imaging revealed a dilation of the right lateral ventriculus, a mass on the pontocerebellar angle, agenesia of the corpus callosum, an arachnoidal cyst on the right hemisphere, microcalcifications, and pachygyria