Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis

Abstract

This male neonate was born at 40 weeks of gestation by vaginaldelivery after an uneventful pregnancy. At day of life 3, he presentedwith seizures characterized by episodes of apnea and cyanosis. Cranio-facial dysmorphic features including a left facial nevus psiloliparus, a leftchoristoma and cleft eyelid, and scalp lipomas prompted the diagnosisof encephalocraniocutaneous lipomatosis. Phenobarbital and levetir-acetam controlled the seizures well. At age 5 months, he developedinfantile spasms. Adrenocorticotropic hormone therapy controlledinfantile spasms for about a month before they recurred. The seizuresremained refractory to multiple antiepileptic drugs, and thechild developed Lennox-Gastaut syndrome. Atage 2 years, avagus nervestimulator was implanted with remarkable seizure improvement. Aspine magnetic resonance imaging at age 2 years showed a T1- andT2-hyperintense, lobular lipoma in the posterior extra-axial spaceextending from the cervical to the thoracic spine with thinning of theadjacent spinal cord (Figure A,B). In addition, an intradural lipomacausing a spinal cord tethering was noted (Figure C,D). Brain magneticresonance imaging showed a lipoma in the left Meckel cave withextension into the pterygopalatine fossa, a large posterior fossa arach-noid cyst wrapping around the left cerebellar hemisphere, and ahypervascular lipoma of the left scalp (Figure E,F).