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1型神经纤维瘤病患儿巨大脑膨出和枕部缺损的治疗：病例说明

Treatment of giant encephalocele and occipital defect in a child with neurofibromatosis type 1: illustrative case.

作者信息

Gao Pingping, Song Yunhai, Xia Zeyang, Liu Huiqing, Yang Bo

机构信息

Department of Neurosurgery, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

出版信息

J Neurosurg Case Lessons. 2025 Sep 1;10(9). doi: 10.3171/CASE2561.

DOI:10.3171/CASE2561
PMID:40889389
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12400847/
Abstract

BACKGROUND

Children with neurofibromatosis type 1 (NF1) rarely develop calvarial defects, and even more rarely do they develop encephalocele and plexiform neurofibroma (PNF).

OBSERVATIONS

The authors report on the repair of osseous defects of occipital bone and encephalocele in a boy with NF1 with a family history of NF1. Targeted medicine was introduced after the repair for unresectable PNF.

LESSONS

The etiopathogenesis and treatment of the occipital defects and associated morbidities are discussed. https://thejns.org/doi/10.3171/CASE2561.

摘要

背景

1型神经纤维瘤病（NF1）患儿很少发生颅骨缺损，更罕见的是发生脑膨出和丛状神经纤维瘤（PNF）。

观察结果

作者报告了一名有NF1家族史的NF1男孩枕骨骨缺损和脑膨出的修复情况。修复后针对无法切除的PNF引入了靶向药物治疗。

经验教训

讨论了枕骨缺损及相关疾病的发病机制和治疗方法。https://thejns.org/doi/10.3171/CASE2561

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/157b1fe2d2c3/CASE2561_figure_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/2a3bd22f3ce6/CASE2561_figure_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/7b90e4861f9c/CASE2561_figure_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/157b1fe2d2c3/CASE2561_figure_3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/2a3bd22f3ce6/CASE2561_figure_1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/7b90e4861f9c/CASE2561_figure_2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1279/12400847/157b1fe2d2c3/CASE2561_figure_3.jpg

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Selumetinib in children with neurofibromatosis type 1 and asymptomatic inoperable plexiform neurofibroma at risk for developing tumor-related morbidity.西罗莫司在儿童 1 型神经纤维瘤病和无症状不可手术丛状神经纤维瘤患者中的应用，这些患者存在发生与肿瘤相关发病率的风险。
Neuro Oncol. 2022 Nov 2;24(11):1978-1988. doi: 10.1093/neuonc/noac109.
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