von Hippel-Lindau disease with spinal hemangioblastoma

Case contributed by Dr Hanisalam

Presentation

A young male patient presented with neck and shoulder pain.

Patient Data

Gender: Male

MRI spine reveals an enhancing intramedullary lesions in the cervical and lumbar spine associated with syringomyelia.

The lumbar lesion was surgically removed and pathologically proven hemangioblastoma.

MRI brain done for screening of posterior fossa hemangioblastomas, which reveals a single small enhancing lesion in the left cerebellar hemisphere. Enhancing lesion of the left eye globe likely represent retinal hemangioblastoma; features are therefore in keeping with von Hippel Lindau syndrome

Modality: Ultrasound

US of the abdomen was done as screening which reveals multiple cystic lesions of the pancreas and kidneys. Most of these cysts appear simple apart from right kidney lower pole cyst which appears more complex and suspicious for malignancy (follow-up unavailable).

MRI 3 years later

Modality: MRI

The patient presented 3 years later with severe headache. MRI of the brain performed which reveals multiple enhancing cerebellar lesion the largest seen in the left cerebellum, probably corresponding to the small enhancing nodule seen 3 years earlier. Associated with acute hydrocephalus. Again demonstrated an enhancing lesion of the left eye globe with a new lesion of the right one probably represent retinal hemangioblastomas

Case Discussion

Spinal hemangioblastomas are less common than those located in the cerebellar hemispheres (accounting for 80% of such tumours). They are commonly located on posterior aspect of the spinal cord and 70% are associated with syringomyelia or cystic component. Contrast -enhanced MRI optimizes visualization of the small mural nodules.

The combination of multiple haemangioblastomas, retinal lesions and multiple renal and pancreatic cysts is characteristic of von Hippel Lindau disease

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Case Information

rID: 10751
Case created: 17th Sep 2010
Last edited: 8th Dec 2015
Inclusion in quiz mode: Included

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