A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered?
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. N...
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Elsevier
2025-09-01
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| Series: | Interdisciplinary Neurosurgery |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214751925001252 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Mohamed Ashraf |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3c1e3d11914f4ee3a1eaf037b8b768a3 |
| institution | Kabale University |
| issn | 2214-7519 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Interdisciplinary Neurosurgery |
| spelling | doaj-art-3c1e3d11914f4ee3a1eaf037b8b768a32025-08-20T04:02:51ZengElsevierInterdisciplinary Neurosurgery2214-75192025-09-014110211310.1016/j.inat.2025.102113A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered?Mohamed Ashraf0Peter Emad Khalil1Omnia Fathy ElRashidi2Jacob Edwar Ibrahem3Hedayat Khaled Mansour4Ahmed Wael Ibrahim5Mohamed Ismael Ali6Hesham Nafea7Mostafa G. Mahran8Abdelwahab Marzouk9Walid Abdel Ghany10Department of Neurosurgery, Ain shams university hospitals, Cairo, Egypt; Corresponding author.Department of Neurosurgery, Ain shams university hospitals, Cairo, EgyptDepartment of Pediatric Neurology, Ain shams university hospitals, Cairo, EgyptKasr Elainy School of Medicine, Cairo University, Cairo, EgyptDepartment of Neurosurgery, Ain shams university hospitals, Cairo, EgyptDepartment of Neurosurgery, Ain shams university hospitals, Cairo, EgyptDepartment of Neurosurgery, Ain shams university hospitals, Cairo, EgyptDepartment of Neurology, Cairo University , Cairo, EgyptDepartment of Anesthesiology, Ain shams university hospitals, Cairo, EgyptDepartment of Anesthesiology, Neurocare Medical Center, Cairo, EgyptDepartment of Neurosurgery, Ain shams university hospitals, Cairo, EgyptBackground: 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.http://www.sciencedirect.com/science/article/pii/S2214751925001252Case reportIntrathecal baclofen pumpHereditary spastic paraparesisMitochondrialSpasticityGene mutation |
| spellingShingle | 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 A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? Interdisciplinary Neurosurgery Case report Intrathecal baclofen pump Hereditary spastic paraparesis Mitochondrial Spasticity Gene mutation |
| title | A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? |
| title_full | A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? |
| title_fullStr | A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? |
| title_full_unstemmed | A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? |
| title_short | A complicated intrathecal baclofen pump implantation in a child with spastic Diplegia: Should a genetic mimic of cerebral palsy be Considered? |
| title_sort | complicated intrathecal baclofen pump implantation in a child with spastic diplegia should a genetic mimic of cerebral palsy be considered |
| topic | Case report Intrathecal baclofen pump Hereditary spastic paraparesis Mitochondrial Spasticity Gene mutation |
| url | http://www.sciencedirect.com/science/article/pii/S2214751925001252 |
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