Antiseizure effect of MEK inhibitor in a child with neurofibromatosis type 1—Developmental and epileptic encephalopathy and optic pathway glioma

Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the central nervous system (CNS) and are particularly at risk for...

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Published in:Epileptic disorders 2024-02, Vol.26 (1), p.133-138
Main Authors: Barrière, Sarah, Faure‐Conter, Cécile, Leblond, Pierre, Philippe, Michael, Portes, Vincent, Lion François, Laurence, Bellescize, Julitta, Sabatier, Isabelle
Format: Article
Language:English
Subjects:
Case reports
Central nervous system
Child
Clinical trials
Convulsions & seizures
Encephalopathy
Epilepsy
Epilepsy - complications
Epilepsy - drug therapy
Epilepsy, Generalized - complications
Female
Genetic disorders
Glioma
Hereditary diseases
Humans
Kinases
MEK inhibitor
MEK inhibitors
Mitogen-Activated Protein Kinase Kinases
Neurofibromatosis
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - drug therapy
Neurofibromatosis 1 - metabolism
neurofibromatosis type 1
Neurofibromin 1
Neurological complications
Optic Nerve Glioma - complications
Optic Nerve Glioma - drug therapy
Optic Nerve Glioma - genetics
optic pathway glioma
Osteoprotegerin
Recklinghausen's disease
Seizures
Seizures - complications
trametinib
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Summary:Background Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder due to a mutation in NF1 gene, resulting in phenotypically heterogeneous systemic manifestations. Patients with NF1 are prone to develop neoplasms of the central nervous system (CNS) and are particularly at risk for optic pathway gliomas (OPG). Epilepsy is another recognized neurologic complication in patients with NF1, with a prevalence estimated between 4% and 14%. Several case reports and early phase clinical trials have demonstrated that the mitogen‐activated protein kinase inhibitors (MEKi) are effective in NF1‐low‐grade gliomas (LGGs), but their influence on seizure activity in humans has not been established. Case study Here, we report a patient with NF1 and developmental and epileptic encephalopathy (DEE) harboring pharmacoresistant tonic seizures, and progressive optic pathway glioma (OPG). By using a MEKi therapy for her OPG, we observed an end to epileptic seizures as well as a significant improvement of interictal EEG abnormalities, despite a lack of tumor reduction. Conclusion MEK inhibitor therapy should be considered for patients with NF1 and refractory epilepsy.
ISSN:1294-9361
1950-6945
DOI:10.1002/epd2.20180