A 20-year-old Chinese male presented with yearlong low back pain and mild numbness of both lower legs. He denied fever, weight loss, and saddle anesthesia, nor did he have a history of cancer, family history of ankylosing spondylitis or recent sports injury. Physical examination was unremarkable, and the x-ray of his lumbar spine was normal. Oral painkillers and muscle relaxants were prescribed. One year later, he presented with blurred vision in the left eye. His best corrected visual acuity was 20/20 right and 4/20 left. Fundoscopy showed significant exudation at the macula with dilated, tortuous retinal blood vessels extending to the inferotemporal quadrant forming a peripheral retinal capillary hemangioblastoma (Figure 1A). Upon review of systems the patient again mentioned his refractory back pain and leg numbness. Brain and spinal magnetic resonance imaging were performed and revealed multiple small hyperintense nodules with contrast enhancement in the cerebellum (Figure 1B) and spinal cord (Figure 1C, 1D). After obtaining a detailed family history, it was discovered that his father also had multiple hemangioblastomas in the central nervous system.
|Journal||Journal of General Internal Medicine|
|Publication status||Published - 2019|