Elice Wijaya, Nitu Karna, Ida Ayu Uttari Priyadarshini
{"title":"病例报告:1型神经纤维瘤病伴智力残疾儿童1例","authors":"Elice Wijaya, Nitu Karna, Ida Ayu Uttari Priyadarshini","doi":"10.15562/bdv.v4i2.55","DOIUrl":null,"url":null,"abstract":"Background: Neurofibromatosis is a genetic disorder which manifests as a tumor that surrounds the nerves and several other pathologic presentations.Case: Female, 11 years old, according to history, physical examination and supporting investigation was consistent with the diagnostic criteria of type 1 neurofibromatosis (NF-1). Patient also has intellectual disability. On the patient, a tumor on the foot region that was functionally disabling was found and a surgical treatment was performed.Discussion: Cognitive disorder is the most common neurological complication in individuals with NF-1 and usually present with low intelligence quotient (IQ). There is no specific treatment to prevent the development of NF-1. However, early treatment can minimize and prevent further complication. Treatment for the patient involve multiple clinical discipline.Conclusion: A neurofibromatosis case can be diagnosed clinically alone, however, since there are many other systemic involvements that require multi-disciplinary approach.","PeriodicalId":8684,"journal":{"name":"Bali Dermatology and Venereology Journal","volume":"25 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case report: a child with type 1 neurofibromatosis and intellectual disability\",\"authors\":\"Elice Wijaya, Nitu Karna, Ida Ayu Uttari Priyadarshini\",\"doi\":\"10.15562/bdv.v4i2.55\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background: Neurofibromatosis is a genetic disorder which manifests as a tumor that surrounds the nerves and several other pathologic presentations.Case: Female, 11 years old, according to history, physical examination and supporting investigation was consistent with the diagnostic criteria of type 1 neurofibromatosis (NF-1). Patient also has intellectual disability. On the patient, a tumor on the foot region that was functionally disabling was found and a surgical treatment was performed.Discussion: Cognitive disorder is the most common neurological complication in individuals with NF-1 and usually present with low intelligence quotient (IQ). There is no specific treatment to prevent the development of NF-1. However, early treatment can minimize and prevent further complication. Treatment for the patient involve multiple clinical discipline.Conclusion: A neurofibromatosis case can be diagnosed clinically alone, however, since there are many other systemic involvements that require multi-disciplinary approach.\",\"PeriodicalId\":8684,\"journal\":{\"name\":\"Bali Dermatology and Venereology Journal\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-11-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bali Dermatology and Venereology Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15562/bdv.v4i2.55\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bali Dermatology and Venereology Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15562/bdv.v4i2.55","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case report: a child with type 1 neurofibromatosis and intellectual disability
Background: Neurofibromatosis is a genetic disorder which manifests as a tumor that surrounds the nerves and several other pathologic presentations.Case: Female, 11 years old, according to history, physical examination and supporting investigation was consistent with the diagnostic criteria of type 1 neurofibromatosis (NF-1). Patient also has intellectual disability. On the patient, a tumor on the foot region that was functionally disabling was found and a surgical treatment was performed.Discussion: Cognitive disorder is the most common neurological complication in individuals with NF-1 and usually present with low intelligence quotient (IQ). There is no specific treatment to prevent the development of NF-1. However, early treatment can minimize and prevent further complication. Treatment for the patient involve multiple clinical discipline.Conclusion: A neurofibromatosis case can be diagnosed clinically alone, however, since there are many other systemic involvements that require multi-disciplinary approach.