Haemangioblastoma (cervical cord)

Q: What is the differential? show answer

A: Ependymoma or haemangioblastoma are most likely. Astrocytoma including pilocytic astrocytoma should be considered. Cord metastasis is unlikely as they are rare, especially in young patients.

Q: What finding dorsal to the lesion is helpful in suggesting a haemangioblastoma over an ependymoma as the most likely histology? show answer

A: Posterior to the lesion a number of serpentine flow voids are noted, typical of haemangioblastomas but unusual in ependymomas.

Q: How do cord haemangioblastomas typically present clinically? show answer

A: Clinical presentation is similar to that of other intramedullary spinal tumours, with pain, weakness and sensory changes common. Rarely, spinal hemangioblastomas may cause subarachnoid haemorrhage or hematomyelia. Polycythaemia due to erythropoietin secretion is reported but rare.

Q: With what phakomatosis are haemangioblastomas associated, and how often is this the case? show answer

A: One third of patients with haemangioblastomas (not just spinal) have von Hippel-Lindau syndrome and typically these patients present earlier with multiple tumours.

Q: What is the genetic underpinning of vHL disease? show answer

A: The disease carries an autosomal dominant inheritance with high expression and variable penetrance. Classically results from an inactivation of a tumour suppression gene located on chromosome 3p25.5. However no mutation is identified in up to 30% of cases.