A Prolonged Path To The Final Diagnosis (video)

Brain biopsy was performed which established the final pathological diagnosis of Burkitt's CNS lymphoma. This 25-year-old patient presented with asymmetric weakness predominantly of the lower limb, areflexia, and cranial neuropathies that fluctuated over 11 months. He was initially suspected to have Miller Fisher variant of GBS based on CSF findings of increased protein, MRI demonstrating cauda equina enhancement, and a negative extensive infectious, inflammatory, and malignant work-up [1,2]. However, a high index of suspicion for masquerade was maintained. Several features of the presentation were atypical for GBS: extremely high protein level in CSF, moderate CSF pleocytosis, marked asymmetrical weakness and areflexia, lack of ataxia, lack of response to IVIG, and marked steroid responsiveness [2]. Onset of new neurological symptoms and new brain lesions prompted a brain biopsy that ultimately diagnosed Burkitt's CNS lymphoma. Burkitt's CNS lymphoma is extremely rare, with only a handful of described cases. Patients mainly present with intraparenchymal involvement, usually of the cerebral hemispheres, and rarely of the pituitary, cerebellum, or brainstem [3]. Three cases with primary spinal or epidural involvement have been described with one case also demonstrating spinal nerve root enhancement [4-6]. Our case is unique in that it demonstrated widespread extraparenchymal manifestations of Burkitt's lymphoma: enhancing lesions of the facial nerves, within the internal auditory canal, Meckel's cave, and spinal nerve roots. Another striking feature was steroid responsiveness with complete resolution of symptoms for nine months following treatment with steroids before relapsing and re-presenting with a large frontal mass. A total of five LPs performed before the diagnosis was made were negative for malignancy demonstrating how difficult it can be to diagnose CNS lymphoma by CSF analysis alone.