C. Mammad, N. Mekaoui, F. Z. Ouadghiri, K. Mammad, B. Dakhama
{"title":"儿童1型神经纤维瘤病4例分析","authors":"C. Mammad, N. Mekaoui, F. Z. Ouadghiri, K. Mammad, B. Dakhama","doi":"10.4236/NM.2017.83005","DOIUrl":null,"url":null,"abstract":"Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal \ndominant genetic disease, characterized by an extreme variability of its \nclinical expression which is also found in the same family. Our work focuses \non the exploitation of four cases of patients with NF-1 who were enrolled in \nthe paediatric neurology consultation at Rabat Children’s Hospital. They are \ntwo infants and two children. Otherwise the diagnosis was made in front of \nthe existence of cafe au lait and lentiginous spots in two boys, also the existence \nof cafe au lait spots and abnormalities in brain imaging in two girls. \nThus an evolution was marked by a favorable outcome for three patients and \nneurological sequelae in one patient.","PeriodicalId":19381,"journal":{"name":"Neuroscience and Medicine","volume":"12 1","pages":"33-40"},"PeriodicalIF":0.0000,"publicationDate":"2017-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Neurofibromatosis Type 1 in Four Children Cases\",\"authors\":\"C. Mammad, N. Mekaoui, F. Z. Ouadghiri, K. Mammad, B. Dakhama\",\"doi\":\"10.4236/NM.2017.83005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal \\ndominant genetic disease, characterized by an extreme variability of its \\nclinical expression which is also found in the same family. Our work focuses \\non the exploitation of four cases of patients with NF-1 who were enrolled in \\nthe paediatric neurology consultation at Rabat Children’s Hospital. They are \\ntwo infants and two children. Otherwise the diagnosis was made in front of \\nthe existence of cafe au lait and lentiginous spots in two boys, also the existence \\nof cafe au lait spots and abnormalities in brain imaging in two girls. \\nThus an evolution was marked by a favorable outcome for three patients and \\nneurological sequelae in one patient.\",\"PeriodicalId\":19381,\"journal\":{\"name\":\"Neuroscience and Medicine\",\"volume\":\"12 1\",\"pages\":\"33-40\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-08-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neuroscience and Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4236/NM.2017.83005\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuroscience and Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4236/NM.2017.83005","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal
dominant genetic disease, characterized by an extreme variability of its
clinical expression which is also found in the same family. Our work focuses
on the exploitation of four cases of patients with NF-1 who were enrolled in
the paediatric neurology consultation at Rabat Children’s Hospital. They are
two infants and two children. Otherwise the diagnosis was made in front of
the existence of cafe au lait and lentiginous spots in two boys, also the existence
of cafe au lait spots and abnormalities in brain imaging in two girls.
Thus an evolution was marked by a favorable outcome for three patients and
neurological sequelae in one patient.