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.
Highlights
Neurofibromatosis type 1 (NF-1), or Von Recklinghausen's disease, is characterized by the development of multiple benign tumors called neurofibromas that impact the nervous system and skin [1]
Neurofibromatosis type 1 (NF-1), 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
NF-1 patients have a higher seizure prevalence compared to the general population, epilepsy is seen in about 47% of patients with this disorder [2,3,4]
Summary
Neurofibromatosis type 1 (NF-1), or Von Recklinghausen's disease, is characterized by the development of multiple benign tumors called neurofibromas that impact the nervous system and skin [1]. He had not exhibited any developmental delays or loss of milestones He had been diagnosed with NF-1 at the age of three months when he presented with multiple café-au-lait spots; he had a family history of NF-1. The patient had experienced an unwitnessed seizure event He had been later found by his mother, and the patient had exhibited increased body tone, loss of bladder tone, as well as loss of consciousness. A repeat read of his most recent MRI of the brain with contrast confirmed the presence of a left splenial lesion Given his clinical history, radiology and clinical findings supported a differential diagnosis of a neoplasm (low-grade glioma) versus post-seizure hyperemia versus left medial temporal lobe sclerosis. A biopsy of this lesion could not be performed due to the high-risk nature of the procedure given the size of the lesion and its location
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