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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

par Sculier, Claudine ;Taussig, Delphine;Aeby, Alec ;Blustajn, Jerry;Bekaert, Olivier;Fohlen, Martine
Référence Child's nervous system
Publication Publié, 2021-07-01

Article révisé par les pairs

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Résumé :

Purpose: 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. Methods: 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). Results: 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. Conclusion: 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.