Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome.
The authors report a 1-year-old Japanese boy, who was noted to have unilateral alopecia and a cloudy cornea since birth. Additional features included mild spasticity and mental retardation, DQ being 70. A non-communicating cystic lesion was found in the right middle cerebral fossa by metrizamide CT scan, and resection of the lesion by craniotomy revealed an arachnoid cyst. The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome.
D001099:Arachnoid; D001932:Brain Neoplasms / Q000151:congenital* / Q000175:diagnosis; D003560:Cysts / Q000151:congenital; D005142:Eyelid Neoplasms / Q000151:congenital; D006801:Humans; D008068:Lipomatosis / Q000151:congenital* / Q000175:diagnosis; D008297:Male; D012535:Scalp; D012878:Skin Neoplasms / Q000151:congenital* / Q000175:diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed