Background: Syringomyelia is an uncommon, poorly understood finding in patients with myotonic dystrophy.
Methods: We describe a patient with myotonic dystrophy and neck pain in whom an extensive neuroradiologic diagnostic work-up was carried out.
Results: Magnetic resonance imaging revealed a large intramedullary cavity extending from the bulbo-medullary junction to the conus medullaris. After intravenous Gadolinium-DTPA administration, an enhanced nodule was seen at T6. Spinal arteriography showed a single hypervascular nodule and slow flow perimedullary draining veins consistent with hemangioblastoma. After removal of the nodule, a partial collapse of the intramedullary cyst was observed.
Conclusions: Intramedullary tumors can underlie syringomyelia in patients with myotonic dystrophy and have to be actively investigated with modern neuroradiologic investigations.