title: Encephalocraniocutaneous lipomatosis: neurologic manifestations.
abstract: We report a new case of encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome of unknown etiology with involvement of tissues arising from the mesoderm and ectoderm: skin, eye, adipose tissue, and brain. We also review the neurologic manifestations of the syndrome, the most frequent of which include seizures, ventricular enlargement, calcifications, mental retardation, and cerebellopontine angle tumor. Our patient had an extensive extradural spinal cord lipomatous lesion, emphasizing the importance of screening for spinal abnormalities in asymptomatic patients with this condition.
authors.affiliation: Department of Radiology, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Lasierra
authors.forename: Ignacio
authors.initials: I
authors.lastname: Valencia
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: Carapeto
authors.forename: Purificación
authors.initials: P
authors.lastname: Ventura
authors.forename: M Pilar
authors.initials: MP
authors.lastname: Samper
authors.forename: Gerardo
authors.initials: G
authors.lastname: Rodríguez
authors.forename: José M
authors.initials: JM
authors.lastname: Pérez-González
authors.forename: Agustín
authors.initials: A
authors.lastname: Legido
mesh_terms: D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000150:complications / Q000503:physiopathology*; D002530:Cerebellopontine Angle / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008068:Lipomatosis / Q000150:complications / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000209:etiology* / Q000503:physiopathology; D012640:Seizures / Q000209:etiology; D012871:Skin Diseases / Q000150:complications / Q000503:physiopathology*; D012886:Skull / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013118:Spinal Cord Diseases / Q000209:etiology / Q000503:physiopathology