Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis.
A case is presented of a 30-year-old, mentally retarded and epileptic patient, with a progressive hemifacial hypertrophy since birth. Repeated biopsies revealed the neurofibromatous nature of her facial lesion. Autopsy also revealed an ipsilateral hemimegalencephaly, as well as meningeal lipomas and osteomas. This combination of lesions represents an unusual variant within the spectrum of neurofibromatosis.
Ross
G W
GW
Department of Pathology, University of Virginia School of Medicine, Charlottesville.
Miller
J Q
JQ
Persing
J A
JA
Urich
H
H
D000328:Adult; D001921:Brain / Q000473:pathology*; D001932:Brain Neoplasms / Q000473:pathology*; D005145:Face / Q000473:pathology*; D005260:Female; D005870:Giant Cell Tumors / Q000473:pathology*; D006801:Humans; D006984:Hypertrophy; D008067:Lipoma / Q000473:pathology*; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology*; D010017:Osteoma, Osteoid / Q000473:pathology*; D014059:Tongue / Q000473:pathology