Imaging findings in encephalocraniocutaneous lipomatosis

Abstract

A man in his 30s with encephalocraniocutaneous lipomatosis (ECCL), hydrocephalus, ventriculoperitoneal shunt, and Lennox-Gastaut syndrome was seen for epilepsy. He had multiple facial subcutaneous nodules (lipomas), near-blindness bilaterally, and right spastic hemiparesis. He was fluent, dysarthric, and followed one-step commands. A partially thrombosed internal carotid aneurysm was found on imaging (not shown).ECCL is a neurocutaneous syndrome resulting from ectomesodermal dysgenesis, characterized by choristomas (ocular tumors), hairless scalp lesions (nevus psiloliparus), lipomas (facial, intracranial, particularly at the cerebellopontine angle, or intraspinal), and calcifications (figure).1 Half of patients have seizures, onethird have moderate mental retardation, and some have intracranial vascular malformations.