Claudine Sculier1, Delphine Taussig2,3, Alec Aeby4, Jerry Blustajn5, Olivier Bekaert3, Martine Fohlen6. 1. Département de Neurologie Pédiatrique, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium. 2. Neurophysiologie Et Epileptologie, Université Paris Saclay-APHP, Le Kremlin Bicêtre, France. 3. Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, 29 rue Manin, 75019, Paris, France. 4. Département de Neurologie Pédiatrique, Hôpital Des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium. 5. Imagerie Médicale, Hôpital Fondation Rothschild, Paris, France. 6. Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, 29 rue Manin, 75019, Paris, France. mfohlen@for.paris.
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.
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.
Authors: Anthony Pecoraro; Eric Arehart; William Gallentine; Rodney Radtke; Edward Smith; Carolyn Pizoli; Sujay Kansagra; Elie Abdelnour; Roger McLendon; Mohamad A Mikati Journal: Epilepsy Behav Date: 2017-07-18 Impact factor: 2.937
Authors: Ingmar Blümcke; Maria Thom; Eleonora Aronica; Dawna D Armstrong; Harry V Vinters; Andre Palmini; Thomas S Jacques; Giuliano Avanzini; A James Barkovich; Giorgio Battaglia; Albert Becker; Carlos Cepeda; Fernando Cendes; Nadia Colombo; Peter Crino; J Helen Cross; Olivier Delalande; François Dubeau; John Duncan; Renzo Guerrini; Philippe Kahane; Gary Mathern; Imad Najm; Ciğdem Ozkara; Charles Raybaud; Alfonso Represa; Steven N Roper; Noriko Salamon; Andreas Schulze-Bonhage; Laura Tassi; Annamaria Vezzani; Roberto Spreafico Journal: Epilepsia Date: 2010-11-10 Impact factor: 5.864
Authors: P Balestri; R Vivarelli; S Grosso; L Santori; M A Farnetani; P Galluzzi; G P Vatti; F Calabrese; G Morgese Journal: Neurology Date: 2003-12-23 Impact factor: 9.910