Mohammad Abuawwad1, Mohammad Jehad Taha1, Yomna W. Mahmoud1, Yara Ali Eltobgi1, Khaled J Ghanayem2, Moneeb Al-taj3, Shahd Al Haj Ali1, Khalid M. Abdelkader Ahmed4, Hadil W Y Alswaitti5, Mohammad Aladawi6
1Kasr Alainy School of Medicine, Cairo University, 2University of Jordan, Amman, 3Jordan University of Science and Technology, Irbid, 4Health Education England, NHS, UK, 5Dubai medical University, 6Department of Neurology, University of Alabama Medical Center, Birmingham
Objective:
To estimate the prevalence and associated factors of seizures and epilepsy in NF1 patients, document associated brain lesions, and the management and prognosis of cases.
Background:
Neurofibromatosis type 1 (NF1), or von Recklinghausen syndrome, is a neurocutaneous, neurogenetic disease associated with dermatological and neurological manifestations, including seizures and epilepsy.
Design/Methods:
An online search was conducted on Google Scholar, PubMed, Scopus, MedRxiv, and Cochrane Library. Screening of 1050 records was done by two authors independently. Included studies were spread across case reports, observational cross-sectional, case-control and cohort studies. Data was extracted including study characteristics, features of NF1, the incidence of seizures and epilepsy, types of seizures and epilepsy, brain imaging, electroencephalogram (EEG) findings, antiepileptic medications and surgery, and comorbidities. A detailed protocol of the study was registered to PROSPERO under ID no. (CRD42024559535).
Results:
Included articles encompassed both pediatric and adult NF1 patients. Approximately half of patients had first-degree relatives with NF1. The incidence of seizures ranged from 3% to 21% while an official diagnosis of epilepsy was reported in 3.8% to 13.5% across studies. The types of seizures included focal, generalized, complex, and infantile spasms. MRI imaging showed the presence of tumors such as meningiomas and optic pathway gliomas, hyperintense areas, enlargement of variable cerebral regions, and cerebral asymmetry. EEG findings in patients with seizures and epilepsy comprised epileptiform discharges, hypsarrhythmia, and paroxysmal activity. In some cases, epilepsy surgery was done to resect causative lesions, with a fair prognosis. Common comorbidities were moyamoya syndrome and psychiatric disorders and epilepsy was in some cases complicated with intellectual disability.
Conclusions:
Seizures and epilepsy are prevalent in NF1 patients and occur with heterogeneous imaging and EEG findings. The prognosis is not always favorable and this study sheds light on the possible unmet needs of NF1 patients.
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