Presentation
History withheld.
Patient Data
Age: 14
Gender: Male
From the case:
Von Hippel-Lindau disease
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MR brain/cervical spine:
- lesions within both globes associated with the retina which are isointense on T2/T1 and demonstrate avid enhancement
- enhancing lesion in the left cerebellar hemisphere
- cystic/solid lesion near the cervicomedullary junction at the dorsal aspect of the medulla with a prominent feeding vessel and avid enhancement of the solid component
- edema in the cervical spine extending inferiorly to C7 level
- small enhancing lesion at C6/7 level
These lesions are characteristic for hemangioblastomas which suggest an underlying diagnosis of von Hippel-Lindau disease.
Case Discussion
The constellation of findings indicates a diagnosis of von Hippel-Lindau disease.
On subsequent follow up investigations, the patient went on to develop renal cell carcinomas and pancreatic cysts.
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