Congenital meningoencephalocele combined with type 1 neurofibromatosis: A case report and literature review
10.3760/cma.j.cn431274-20230804-00084
- VernacularTitle: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
- Author:
Li ZHOU
1
;
Xiangyong QU
;
Peng ZHANG
;
Hao HUANG
;
Kun LIU
Author Information
1. 湖南省脑科医院（湖南省第二人民医院）神经外科，长沙 410007
- Keywords:
Neurofibromatosis 1;
Congenital meningocele
- From:
Journal of Chinese Physician
2024;26(6):848-852
- CountryChina
- Language:Chinese
-
Abstract:
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.
