Introduction: Hemangioblastomas are benign tumors that occur sporadically or as part of von Hippel-Lindau (VHL) disease. Hemangioblastomas account for 2-6% of all spinal cord tumors . The purely extradural location is the rarest form of these tumors. Contrast-enhanced Magnetic Resonance Imaging (MRI) is the gold standard for detecting and monitoring hemangioblastomas. The treatment for symptomatic patients is microsurgical resection[1,3].
Methods: Case report of a patient with VHL with epidural tumor at the level of T5-T6.
Results: Female, 58-year-old, operated on at age 36 by hemangioblastoma of the left cerebellar hemisphere, with left troclhear nerve palsy and gait ataxia. In March 2015, showed worsening of ataxia, spastic paraparesis, sphincter function impairment and a deficit of sensation at T5 level. Neurologically had a lower limb paraparesis with 4/5+ force, positive Babinski on the right and hyperreflexia of osteotendinous reflexes of the lower limbs. Imaging exams revealed epidural tumor centered on T5-T6, extending to the right rib and with medullar compression. A T4-T5 laminectomy, cost-transverse joint removal of right T5, and total epidural tumor removal were performed. The pathophysiological anatomy confirmed aspects compatible with hemangioblastoma. In Genetic consultation, DNA analysis obtained from paraffin cuts from hemangioblastoma identified the c.472C> G mutation in heterozygosity in exon 3 of the VHL gene (p.Leu158Val). Currently, he recovered motor and sensory deficit, maintaining only gait ataxia. Dorsal RM without evidence of relapse.
Conclusions: The review of literature demonstrated that extradural spinal hemangioblastoma associated with VHL is a rare diagnosis. For the first time in our practice, we observed a extradural hemangioblastoma in the thoracic spine in a patient with von Hippel-Lindau disease. And complete removal of the tumor was able to revert the neurological compromises and avoid local recurrences.
Patient Care: It will contribute to the patient's therapeutic orientation and decision.
Learning Objectives: Case report
References: Chittiboina P, Lonser RR. Von Hippel-Lindau disease. Handb Clin Neurol. 2015;132:139-56.
2. Hodgson TS, Nielsen SM, Lesniak MS, Lukas RV. Neurological Management of Von Hippel-Lindau Disease. Neurologist. 2016 Sep;21(5):73-8 3. Konovalov NA1, Shishkina LV1, Asyutin DS1, Onoprienko RA1, Korolishin VA1, Zakirov BA1, Martynova MA1, Cherkiev IU1, Pogosyan AL1, Timonin SY1 . Extradural spinal cord hemangioblastoma (a case report and literature review). 2016;80(6):88-92.