Objective To explore the diagnosis and clinical characteristics of congenital meningocele combined with type 1 neurofibromatosis(NF1).Methods Clinical data of a child with congenital meningoencephalocele complicated with NF1 diagnosed and treated by the Hunan Provincial Brain Hospital on July 12,2021 were collected,and relevant literature was reviewed.Results Patient,female,9 years old,with milk coffee stains on the skin of the trunk and limbs,mostly with a length greater than 1.5 cm;A three-dimensional CT scan of the skull showed a skull defect in the left temporal occipital region(approximately 7.5 cm × 6.7 cm)and below the right posterior occipital tuberosity(approximately 3 cm × 3 cm).The patient's clinical whole exome sequencing detected one pathogenic mutation(NF1:p.Arg681Ter),and underwent lumbar cistern drainage,cyst resection,occipital cistern ostomy,and titanium mesh repair and shaping surgery.The pathological result showed proliferation of arachnoid and fibrous tissue,and good postoperative recovery.Conclusions Congenital meningoencephalocele combined with NF1 is extremely rare,and early surgery has more advantages than disadvantages.The use of titanium mesh with sliding groove can alleviate the limitation on skull growth to a certain extent.NF1 has diverse clinical manifestations and different onset ages,and should be followed up by a multidisciplinary team for a long time.
Neurofibromatosis 1Congenital meningocele
周礼、瞿祥勇、张彭、黄昊、刘坤
展开 >
湖南省脑科医院(湖南省第二人民医院)神经外科,长沙 410007
神经纤维瘤病1型 先天性脑膜膨出
湖南省自然科学基金项目湖南省卫生健康高层次人才专项Special Funds for High-Level Talents in Health Care of Hunan Province
NETL
NSTL
万方数据
