A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered?

IF 0.5 Q4 CLINICAL NEUROLOGY

Interdisciplinary Neurosurgery: Advanced Techniques and Case Management Pub Date : 2025-08-05 DOI:10.1016/j.inat.2025.102113

Mohamed Ashraf , Peter Emad Khalil , Omnia Fathy ElRashidi , Jacob Edwar Ibrahem , Hedayat Khaled Mansour , Ahmed Wael Ibrahim , Mohamed Ismael Ali , Hesham Nafea , Mostafa G. Mahran , Abdelwahab Marzouk , Walid Abdel Ghany

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Abstract

Background

Management of hypertonia in children with cerebral palsy was challenged over decades including physical rehabilitation, splinting, orthopedic procedures, Botulinum toxin injection, ablative neurosurgical techniques and neuromodulation procedures including intrathecal baclofen infusion. Neurological decline is not a common fate of the classic cerebral palsy (perinatal insult). Observations: We report a 14-year-old boy child with spastic cerebral palsy diplegia showing rapid decline of neurological status following intrathecal baclofen pump implantation. The whole exome genetic sequencing of the child showed an ultra-rare bi-allelic mutation in the NFU1 gene. This gene mutation has a wide spectrum of symptoms including fatal leukoencephalopathy, muscular hypotonia, psychomotor regression, swallowing difficulties and pulmonary hypertension. Lessons: Genetic mimics of cerebral palsy may be overlooked and must be put into consideration before making surgical decisions.

Previous presentations:: An abstract was accepted for oral presentation in the Ain shams Neurosurgery Congress (ASNS) in Cairo, Egypt in May 2023. There are no other presentations or submissions of publications for this case.

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痉挛性双瘫患儿的复杂鞘内巴氯芬泵植入：是否应考虑脑瘫的遗传模拟？

几十年来，脑瘫儿童高渗症的治疗一直面临挑战，包括物理康复、夹板、骨科手术、肉毒杆菌毒素注射、消融神经外科技术和神经调节手术，包括鞘内输注巴氯芬。神经功能衰退不是典型脑瘫的常见结局（围产期侮辱）。观察：我们报告了一名14岁的痉挛性脑瘫男孩，在鞘内植入巴氯芬泵后，神经系统状态迅速下降。该儿童的全外显子组基因测序显示，NFU1基因存在超罕见的双等位基因突变。这种基因突变具有广泛的症状，包括致命性脑白质病、肌肉张力低下、精神运动减退、吞咽困难和肺动脉高压。经验教训：脑瘫的基因模拟可能被忽视，必须在做出手术决定之前加以考虑。以前的报告：2023年5月，在埃及开罗举行的艾因沙姆斯神经外科大会（ASNS）上，一篇摘要被接受口头报告。本案例没有其他报告或出版物提交。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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