Abstract

Background: Von Recklinghausen disease (Neurofibromatosis type 1, NF1) refers to an autosomal
dominant genetic disorder that is characterized by the development of multiple benign (non-cancerous)
tumors that impact the nervous system and skin (neurofibromas). This disorder has a prevalence of one in
3,000 births and a high frequency of mutation leading to variable presentations ranging from benign
lesions to nonfunctional impairment with complications. Such complications vary based on age and can
include psychiatric disorders (anxiety, dysthymia, depression), chronic low back pain with scoliosis, and
even seizures. NF1 has a higher seizure prevalence compared to the general population; however, the
rationale behind this is difficult to elucidate due to when and how seizures are diagnosed as well as if
provoking factors are present.

Case: We present a case report of a 20-year-old male with a documented history of NF1, since the age of
three, who presented to a local hospital for evaluation of an unwitnessed seizure with loss of
consciousness/bladder control. He underwent an MRI without contrast which demonstrated
hyperintensities bilaterally over the mesial temporal lobe along with a FLAIR hyperintensity lesion near
the splenium of the corpus callosum. He later became combative and experienced another seizure event
requiring intubation. A repeat MRI with contrast demonstrated a faint enhancement of the splenial lesion.
He later underwent EEG monitoring which was unremarkable.

Conclusion: We present a case with a tumor of the splenium of the corpus callosum and NF1. The
imaging characteristics provide a possible rationale for a higher seizure frequency in NF1 patients
compared to the general population.