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.
Childs Nerv Syst
; 38(6): 1217-1221, 2022 06.
Article
en En
| MEDLINE
| ID: mdl-34508273
ABSTRACT
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neurofibromatosis 1
/
Enfermedades Neurodegenerativas
/
Epilepsia
/
Epilepsia Refractaria
Tipo de estudio:
Etiology_studies
Límite:
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Bélgica