Pineal region hemangioblastoma in a patient with Von Hippel-Lindau disease.

CASE The patient is a 37 year-old female who was diagnosed with Von Hippel-Lindau disease at the age of 28 years. At presentation the patient had an abdominal sonogram showing pancreatic cysts and a single liver hemangioma, normal ophthalmologic examination and normal CT scan of the brain. One year later, she had an episode of vertigo and severe headache and a new CT scan of the brain showed an space-ocupying lesion in the left cerebellar hemisphere compatible with hemangioblastoma. Surgical resection was performed. Mutation screening of the VHL gene was performed and a frameshift mutation in exon two (codon 115) was identified (g.344delA). Follow-up studies showed an expansive mass of the pancreatic head. She developed persistent headache and a MRI of the brain showed a giant brightly mass in the quadrigeminal cistern causing hydrocephalus. The physical examination did not show any focal deficit. Fundoscopy showed bilateral papilledema. The tumor was ressected. Postoperative hydrocephalus developed and was treated with ventriculoperitoneal shunt. The microscopic features showed a hemangioblastoma. The symptoms of intracranial hypertension improved. Three months later, the patient clinical status deteriorated. A new MRI revealed a large posterior fossa cyst with a large mural nodule at the topography of the posterior incisural space. The tumor was completely ressected en bloc. The anterior wall of the cyst was open to stablish a communication with the fourth ventricule. The pathology was hemangioblastoma. The patient symptoms improved. The tumor was immunopositive for neuronspecific enolase (NSE) and immunonegative for epithelial membranous antigen (EMA).