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.
Copyright © 2021, Quinonez et al.