Von Hippel Lindau disease

Case contributed by Dr Ian Bickle

Presentation

Young male patient. No family history. Previous hospital attendance and biopsy for posterior fossa haemangioblastoma.

Patient Data

Age: 25 years
Gender: Male
MRI

Multiple enhancing intracerebral lesions, predominantly in the posterior fossa.

The lesions appear solid, rather than cystic with a solid mural nodule.

MRI

Numerous intra-dural enhancing lesions throughout the cervicothoracic spine.

The appearances are similar to those in the brain.

Ultrasound

Solid mass in the lower pole of the left kidney.  Cortical based, with a high suspicion of tumour.

Simple cysts in the kidney.

 

CT

Multiple bilateral renal cysts.

Multiple small pancreatic cysts.

Enhancing mass in the lower pole of the left kidney.

Case Discussion

Von Hippel-Lindau (vHL) disease is a multi-system disorder characterised by the development of numerous benign and malignant tumours as well as several non-malignant lesions.

The characteristic neurological tumour is a haemangioblastoma, which may involve the brain or spinal cord.

Renal cell carcinoma can occur in up to 40% of cases and is one of the most feared complications. RCC's present at an earlier age in those with vHL, as in this case in where the patient was in their 20's.

The renal lesion was confirmed as a cystic renal cell carcinoma on CT guided biopsy.

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Case information

rID: 29162
Case created: 7th May 2014
Last edited: 4th Nov 2017
Inclusion in quiz mode: Included

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