title: Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.
abstract: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.
authors: Victorian Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia. amord@cryptic.rch.unimelb.edu.au
authors: D J
authors: DJ
authors: Amor
authors: A J
authors: AJ
authors: Kornberg
authors: L J
authors: LJ
authors: Smith
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002114:Calcinosis; D002540:Cerebral Cortex / Q000473:pathology; D003884:Dermoid Cyst; D005128:Eye Diseases; D006801:Humans; D007223:Infant; D008068:Lipomatosis; D008279:Magnetic Resonance Imaging; D008297:Male; D012535:Scalp; D012640:Seizures; D013577:Syndrome