先天性脑膜脑膨出合并1型神经纤维瘤病1例并文献复习

Congenital meningoencephalocele combined with type 1 neurofibromatosis:A case report and literature review

目的探讨先天性脑膜脑膨出合并1型神经纤维瘤病(NF1)的诊断和临床特点。方法收集2021年7月12日由湖南省脑科医院诊治的1例先天性脑膜脑膨出合并NF1患儿的临床资料并复习相关文献。结果患儿,女,9岁,躯干、四肢皮肤遍布牛奶咖啡斑,多处长径>1.5 cm;头颅三维CT示左侧颞枕部(约7.5 cm×6.7 cm)及右后枕骨粗隆下(约3 cm×3 cm)颅骨缺损。患儿临床全外显子测序检测出1个致病突变(NF1:p.Arg681Ter),行腰大池引流、囊肿切除、枕大池造瘘及钛网修补成形术,病理结果为增生蛛网膜及纤维组织,术后恢复良好。结论NF1合并先天性脑膜脑膨出极为罕见,早期手术利大于弊,采用带滑槽钛网可一定程度缓解对颅骨生长的限制。NF1临床表现多样化且起病年龄不一,应长期多学科团队随诊。

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.