Glioma-Induced Seizure in a Neurofibromatosis Type 1 Patient: A Case Report

Abstract

Neurofibromatosis type 1 (NF-1), also known as Von Recklinghausen's disease, is an autosomal-dominant disease that is characterized by high-frequency mutations leading to multiple benign tumors called neurofibromas and café au lait spots on the skin. Although NF-1 mainly affects the nervous system, it can have multisystem involvement as well, associated with the cardiovascular, orthopedic, gastrointestinal, and dermatologic systems. Psychiatric complications like anxiety, dysthymia, and depression have also been reported in patients with NF-1. The prevalence of this disorder is one in 3,000 births. NF-1 patients have a higher prevalence of seizures compared to the general population. A 20-year-old male with a diagnosis of NF-1 at the age of three months presented to the emergency room (ER) of a local hospital for the evaluation of an unwitnessed seizure characterized by loss of consciousness and bladder control. MRI of the brain without contrast revealed hyperintensities in the mesial temporal lobe bilaterally, with a hyperintense FLAIR lesion in the splenium of the corpus callosum. The patient exhibited sudden aggression and combativeness while in the ER and also experienced a second seizure, which prompted immediate intubation. A second MRI with contrast confirmed the presence of the lesion. The patient also underwent electroencephalogram (EEG) monitoring later during his hospital stay, the results of which were unremarkable. This case report discusses an adult male with NF-1 and a tumor of the splenium of the corpus callosum. The displayed imaging suggested a possible etiology for high seizure frequency in patients with NF-1 compared to the general population.

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years’ Experience

“…31 Although reports of causative relationship between location of brain tumors and epilepsy classification have been published, data on correlation between EEG patterns and brain tumors is sparse. 32,33 In our cohort, we have not found a statistical correlation between the localization of EEG epileptiform features and the presence of intracranial tumors. However, the brain tumors in our group were mainly in the optic pathway and the infratentorial structures, with no neuroradiological evidence of cortical involvement.…”

Doença de Von Recklinghausen: uma abordagem diagnóstica, evolução clínica e revisão

“…Os portadores de NF1 são predispostos ao acometimento por doenças neurológicas, e consequente tumores cerebrais, sendo estimado que cerca de 15-20% das crianças portadoras Brazilian Journal of Health Review, Curitiba, v. 6, n. 5, p. 21666-21675, sep./oct., 2023 desenvolvem gliomas. Destes, destacam-se os gliomas da via óptica de baixo grau, podendo ser complicados em proptose ocular e consequente perda de visão (Quironez et al 2021).…”

“…Os autores Quironez et al (2021) descreveram caso de paciente com história de evento convulsivo não testemunhado pelos profissionais, sexo masculino, 20 anos, diagnosticado com NF1 aos 3 meses de idade devido a identificação de máculas "café-com-leite", sendo assintomático desde então.…”

“…Fora evidenciado em alguns trabalhos relação de maior predisposição a ansiedade e depressão em pacientes portadores de NF1 quando comparados a população em geral, e comparam as taxas com outras comorbidades como diabetes mellitus e esclerose múltipla, sendo sugerido apresentações psiquiátricas nesses grupos de pacientes pode decorrer de alterações neuropatológicas e não fatores externos (Quironez et al 2021).…”