VHL disease is due to an autosomal dominant mutation of a tumor suppressor gene on chromosome 3 resulting in the growth of cysts and tumors. Within the brain this characteristically includes hemangioblastomas. Tumors/cysts affecting other organ systems include renal cell carcinoma, pancreatic neuroendocrine tumors, and renal/pancreas cysts. Although VHL gene mutations are associated with known central nervous system complications from hemangioblastomas, another consideration may include the development of MS.
MS is a demyelinating disorder with a neurodegenerative component and has a less clearly defined genetic contribution. Twin concordance studies have long demonstrated an inherited predisposition to MS and genome-wide association studies have since identified various loci increasing risk of MS. A recent case report described the presence of MS in a mother and daughter who have concurrent VHL disease.Our 20-year-old female patient with past medical history of VHL disease presented with headache, Lhermitte’s sign, and mildly impaired balance. On examination she was found to have pathologically brisk reflexes of the bilateral upper and lower-extremities.
Two sets of MRIs of the brain/cervical/thoracic spine were obtained 6 months apart. Interval scan revealed new small scattered enhancing supratentorial and infratentorial lesions. There were no cystic lesions/masses found as to suggest hemangioblastomas. Updated spine imaging demonstrated resolved enhancement of a cervical cord lesion with interval development of two new short-segment and nonenhancing T2 hyperintense lesions. There were no supportive features as to suggest spinal hemangioblastoma (e.g., syrinx or mural nodule enhancement). The patient met criteria for relapsing multiple sclerosis. Moreover, the patient’s sister similarly has confirmed VHL and reportedly was also diagnosed with MS.