Epilepsy in neurofibromatosis type 1

• Published in: Epilepsy & behavior Vol. 73; pp. 137 - 141
• Main Authors: Pecoraro, Anthony, Arehart, Eric, Gallentine, William, Radtke, Rodney, Smith, Edward, Pizoli, Carolyn, Kansagra, Sujay, Abdelnour, Elie, McLendon, Roger, Mikati, Mohamad A
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2017
• Subjects: Adult; Brain Neoplasms - complications; Brain Neoplasms - diagnostic imaging; Brain Neoplasms - surgery; Child; Child, Preschool; Cohort Studies; Complex partial seizure; Epilepsies, Partial - complications; Epilepsies, Partial - diagnostic imaging; Epilepsies, Partial - surgery; Epilepsy - complications; Epilepsy - diagnostic imaging; Epilepsy - surgery; Female; Focal cortical dysplasia; Hemispherectomy; Humans; Magnetic Resonance Imaging; Male; Malformations of Cortical Development - complications; Malformations of Cortical Development - diagnostic imaging; Mechanistic target of rapamycin signaling pathway; Mesial temporal sclerosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnostic imaging; Neurofibromatosis 1 - surgery; Neurofibromatosis type 1; Neurology; Psychosurgery; Young Adult; Mesial Temporal Sclerosis; Neurofibromatosis Bright Objects; FCD; Neurofibromatosis type 1; Complex partial seizure; MTS; Generalized Tonic-Clonic; Mechanistic Target Of Rapamycin; Focal Cortical Dysplasia; GTC; Mechanistic target of rapamycin signaling pathway; NF1; mTOR; NBO; Focal cortical dysplasia; Mesial temporal sclerosis
• ISSN: 1525-5050; 1525-5069
• DOI: 10.1016/j.yebeh.2017.05.011

Abstract Objectives To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1). Methods Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period. Results Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant). As compared to the patients with no epilepsy, those with epilepsy were more likely to have MRI findings of mesial temporal sclerosis (MTS) (23% vs. 5%, p = 0.0064), and cerebral hemisphere tumors (31% vs. 10%, p = 0.0079), but not of the other MRI findings including neurofibromatosis bright objects, or optic gliomas. Three of the six patients with MTS underwent temporal lobectomy with subsequent control of their seizures with confirmation of MTS on pathology in 3/3 and presence of coexisting focal cortical dysplasia (FCD) in 2/3. We also have observed three additional patients outside the above study with the association of NF1, MTS, and intractable epilepsy. Significance Epilepsy is relatively common in NF1, often occurs in patients with brain tumors or with MTS which can coexist with FCD, can be associated with multiple types of epilepsy syndromes, and when localization-related is often drug-resistant. Patients with NF1 and MTS can respond to medial temporal lobectomy and may have coexisting medial temporal lobe cortical dysplasia.