{"title":"半巨脑畸形、面肌肥厚和颅内脂肪瘤:神经纤维瘤病的一种变体。","authors":"G W Ross, J Q Miller, J A Persing, H Urich","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"69-77"},"PeriodicalIF":0.0000,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis.\",\"authors\":\"G W Ross, J Q Miller, J A Persing, H Urich\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":77754,\"journal\":{\"name\":\"Neurofibromatosis\",\"volume\":\"2 2\",\"pages\":\"69-77\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1989-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurofibromatosis\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurofibromatosis","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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.