Hippocampal sclerosis and epilepsy surgery in neurofibromatosis type 1: case report of a 3-year-old child explored by SEEG and review of the literature
| Autor: | Alec Aeby, Jerry Blustajn, Olivier Bekaert, Delphine Taussig, Martine Fohlen, Claudine Sculier |
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| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Pediatrics Drug Resistant Epilepsy Neurofibromatosis 1 Hippocampus Stereoelectroencephalography Epilepsy Seizures medicine Humans Epilepsy surgery Neurofibromatosis Child Pathological Hippocampal sclerosis Sclerosis business.industry Electroencephalography Neurodegenerative Diseases General Medicine medicine.disease Magnetic Resonance Imaging Treatment Outcome Child Preschool Pediatrics Perinatology and Child Health Neurology (clinical) Neurosurgery business |
| Zdroj: | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 38(6) |
| ISSN: | 1433-0350 |
| Popis: | Epilepsy associated with neurofibromatosis type 1 (NF1) is infrequent and usually controlled with anti-epileptic drugs. However, in some drug-resistant patients a presurgical evaluation should be considered. Hippocampal sclerosis (HS) is one of the rare causes of epilepsy in neurofibromatosis type 1, which can lead to surgery. We present a three-year-old child with refractory epilepsy associated with several structural brain abnormalities but normal hippocampi on brain MRI and a heterozygous variant in the NF1 gene (c.2542G > A). A complete presurgical evaluation was performed including stereo-electroencephalography (SEEG). Usual seizures were recorded, and the seizure onset zone was delineated in the anterior hippocampus. Pathological examination performed after a tailored mesio-temporal resection confirmed hippocampal sclerosis, and the child achieved seizure freedom with 2 years of follow-up. This rare pediatric case illustrates that NF1 may be associated with early-onset refractory epilepsy secondary to MRI-negative HS, supporting the major role of SEEG in the presurgical evaluation of patients with extended cortical malformations. |
| Databáze: | OpenAIRE |
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