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Epilepsy in neurofibromatosis type 1.
Anthony Pecoraro1, Eric Arehart1, William Gallentine1
1Duke University Medical Center, Division of Pediatric Neurology, Durham, NC 27710, United States.
Epilepsy & Behavior : E&B
|June 21, 2017
Summary
Epilepsy is common in Neurofibromatosis type 1 (NF1), frequently linked to brain tumors or mesial temporal sclerosis (MTS). Localization-related epilepsy in NF1 is often drug-resistant, but some patients with MTS may benefit from surgery.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Neurofibromatosis type 1 (NF1) is a genetic disorder with varied clinical manifestations.
- Epilepsy is a recognized but not fully characterized complication in NF1 patients.
Purpose of the Study:
- To delineate the specific characteristics and prevalence of epilepsy in individuals with NF1.
- To identify associations between epilepsy and neuroimaging findings in NF1.
Main Methods:
- A retrospective analysis of 184 consecutive NF1 patients over three years.
- Categorization of epilepsy types and assessment of drug resistance.
- Correlation of epilepsy with MRI findings, including mesial temporal sclerosis (MTS) and cerebral hemisphere tumors.
Main Results:
- Epilepsy was diagnosed in 26 (14%) of 184 NF1 patients; 17 had localization-related epilepsy, often drug-resistant.
- Mesial temporal sclerosis (MTS) and cerebral hemisphere tumors were more frequent in NF1 patients with epilepsy.
- Three patients with MTS and intractable epilepsy showed seizure control after temporal lobectomy, with coexisting focal cortical dysplasia (FCD) noted in two.
Conclusions:
- Epilepsy is a significant comorbidity in NF1, frequently associated with MTS and/or brain tumors.
- Localization-related epilepsy in NF1 is often refractory to medication.
- Surgical intervention, such as temporal lobectomy, may be effective for NF1 patients with MTS and intractable epilepsy, especially when FCD is present.
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