The multiple manifestations of the encephalocraniocutaneous lipomatosis syndrome.
A case is reported of a recently described neurocutaneous syndrome, manifested by a noncommunicating right lateral ventricular cyst, a left-sided lipoma of the scalp with alopecia, right-sided multiple truncal lipomas, right-sided ocular manifestations, left leg hypertrophy, and seizures. The findings in cases of encephalocraniocutaneous lipomatosis are described to demonstrate the spectrum of this syndrome.
D000293:Adolescent; D000505:Alopecia / Q000473:pathology; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000473:pathology; D002552:Cerebral Ventricles; D014695:Cerebral Ventriculography; D003560:Cysts / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D007906:Lens Subluxation / Q000473:pathology; D008068:Lipomatosis / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed