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