Case Presentation
A 29-year-old female developed pulsatile tinnitus followed by total right-sided facial numbness. She became unsteady with fleeting double vision. Positive clinical signs initially included: bidirectional saccadic pursuit, overshoot dysmetria, right beating nystagmus, generalized clumsiness with wide-based gait, and mild left-sided weakness. Two months later, the patient developed a right Horner’s syndrome, bilateral sixth nerve palsy, a left-sided spastic hemiparesis, and diplopia. During an empiric course of IV steroids, a left disc head swelling appeared plausibly due to a leptomeningeal involvement and resolved over three weeks. Despite conventional therapy for gliomatosis cerebri, Temodar-Avastin and Dexamethasone, the patient expired.
Test Results
MRI revealed weighted T2 multifocal hyperintensities throughout the cerebellum, pons, midbrain, right basal ganglia, right anterior temporal lobe, and superior right frontal lobe consistent with diffuse edema. Serological was negative for MOG antibody, CRMP-5-IgG, NMDA receptor, and NMO/AQP4. ANA battery came back positive (1:80). Lumbar puncture revealed elevated myelin basic protein (10.1ng/mL) but was otherwise unremarkable.
Biopsy
Brain biopsy of the cerebellum revealed hypercellularity in the leptomeninges and subpial regions were weakly positive for GFAP, synaptophysin, and S100 protein consistent with a neoplasm from a neuroglial lineage. Further molecular testing revealed the neoplasm to be IDH wild-type glioblastoma with a final diagnosis of diffuse astrocytic glioma with molecular features of glioblastoma + gliomatosis pattern diffusion.