Multiple spinal "miliary" hemangioblastomas in von Hippel-Lindau (vHL) disease without cerebellar involvement. A case report and review of the literature.
We report on a 57-year-old male presenting with radicular pain in the nerve roots of L5 and S1 on the right side and dysuria. Magnetic resonance imaging (MRI) of the lumbar spine showed multiple (up to 20) small, intradural enhancing nodules attached to the cauda equina down to the sacrum, the largest 1 cm in diameter at the level Th12/L1 compressing the conus. Additionally, small nodules in the cervico-thoracal region adjacent to the cord, but no cerebellar or cerebral abnormalities, were detected in a consecutive MRI of the remaining neuroaxis. The histology of a resected lesion at Th12/L1 revealed hemangioblastoma of the reticular type. Together with a history of left eye enucleation performed 17 years ago for angiomatosis of the retina and the immunohistochemical detection of von Hippel-Lindau (vHL) protein within the removed spinal hemangioblastoma, a diagnosis of vHL disease was established. Family history and screening for visceral manifestations of vHL disease were negative. In contrast to cerebellar or solitary spinal hemangioblastomas, multiple spinal hemangioblastomas without cerebellar involvement in vHL represent unusual manifestations. Unlike the case for solitary lesions in non-syndromic patients, a surgical cure does not seem feasible in this case. The role of treatment modalities is discussed.
Roessler
K
K
Department of Neurosurgery, University Hospital of Vienna, Austria. karl.roessler@telecom.at
Dietrich
W
W
Haberler
C
C
Goerzer
H
H
Czech
T
T
D014408:Biomarkers, Tumor / Q000032:analysis; D002420:Cauda Equina / Q000473:pathology / Q000601:surgery; D003937:Diagnosis, Differential; D018325:Hemangioblastoma / Q000175:diagnosis / Q000473:pathology / Q000601:surgery*; D006801:Humans; D008159:Lumbar Vertebrae / Q000473:pathology / Q000601:surgery*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009408:Nerve Compression Syndromes / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D012447:Sacrum / Q000473:pathology / Q000601:surgery*; D013125:Spinal Neoplasms / Q000175:diagnosis / Q000473:pathology / Q000601:surgery*; D013126:Spinal Nerve Roots / Q000473:pathology / Q000601:surgery; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000473:pathology / Q000601:surgery*
D014408:Biomarkers, Tumor