44 years old woman with dizziness and seizure

Case provided by Christian

History
44 years old woman with new onset generalized tonic-clonic seizure. Episodes of dizziness in the past few weeks.

Imaging
The CT scan shows signs of an acute obstructive hydrocephalus with a swollen cortex and no visible outer CSF (image A). There is an impression of a reduced grey-white matter differentiation. In the posterior cranial fossa at the craniocervical junction there is cystic mass (image B). The contrast-enhanced MRI scan shows that the cystic mass is composed of a solid mural nodule vividly enhancing and a larger cyst with non-enhancing walls (image C). It is located under the fourth ventricle with lifting the inferior medullary velum.

Diagnosis
Hemangioblastoma (HGBL).

Discussion
HGBLs have the typical imaging features of largely cystic mass and a vascular tumor nodule. It is the most common primary fossa tumor in adults, where it can be found in 90-95 % of all cases. After metastases it is the second most common posterior fossa tumor in adults. It is a WHO grade 1 tumor with a peak at 40-60 years and a slight male predominance. Most common clinical signs are unspecific like headache, dysequilibirum and dizziness. Treatment is en-bloc surgical resection with a 10-year survival rate of 85 % and a recurrence rate of 15-20 %.

While in 60-75 % the occurence is sporadic, 25 – 40 % of HGBL occur in patients with Von-Hippel-Lindau-disease (VHL). These patients often show atypical locations of the disease like supratentorial (around optic pathways, hemispheres) manifestations and multiple lesions. Also VHL-associated HGBL occurs at younger age (< 15 years). These patients are often developing additional lesions, so they require a periodic screening and a lifelong follow-up of the entire neuroaxis.

Teaching points

  • Most common posterior fossa intraaxial mass in middle-aged adult is metastasis, not HGBL.
  • Most common posterior fossa primary tumor in middle-aged is HGBL.
  • Screen entire neuroaxis for other HGBLs in a VHL patient.

Recommended reading

Rachinger et al.
Solid haemangioblastomas of the CNS: a review of 17 consecutive cases
Neurosurg Rev. 2009; 32(1):37-47

Shanbhoque et al.
von Hippel-Lindau Disease: Review of Genetics and Imaging
Radiol Clin North Am. 2016; 54(3):409-22

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