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 wo...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 café au lait and lentiginous spots in two boys, also the existence of café 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.展开更多
目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临...目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料。结果2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C>T,其父母无致病基因。采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C>T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗。随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤。结论NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量。展开更多
文摘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 café au lait and lentiginous spots in two boys, also the existence of café 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.
文摘目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料。结果2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C>T,其父母无致病基因。采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C>T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗。随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤。结论NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量。
