Encephalocraniocutaneous lipomatosis: neurologic manifestations.
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.
Lasierra
Rafael
R
Department of Radiology, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, Spain.
Valencia
Ignacio
I
Carapeto
Francisco J
FJ
Ventura
Purificación
P
Samper
M Pilar
MP
Rodríguez
Gerardo
G
Pérez-González
José M
JM
Legido
Agustín
A
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