Von-Hippel Lindau disease

Case contributed by Dr Vikas Shah

Presentation

2 weeks of headache with blurred vision.

Patient Data

Age: 20 years
Gender: Male
CT

CT head

5 cm cystic posterior fossa lesion with enhancing 1 cm nodule superiorly. Mild surrounding oedema. Signs of early hydrocephalus. No other lesions. Features suggest haemangioblastoma.

The lesion was surgically excised and confirmed to be a haemangioblastoma. Patient underwent abdominal ultrasound to screen for lesions associated with Von Hippel-Lindau disease; this was normal.

6 months later, presents with tachycardia and flushing. Found to be hypertensive and had high urine catecholamines. MRI requested to look for phaeochromocytoma.

MRI

MRI abdomen

There are bilateral adrenal masses - high signal on T2 weighted images and hyperenhancing following contrast administration. No renal, liver or pancreatic lesions.

Iodine 123 MIBG scan

Tracer activity is noted bilaterally in the upper abdomen, more so on the left. Appearances in keeping with bilateral phaeochromocytomas.

Case Discussion

vHL is a rare genetic disorder characterised by the development of both benign and malignant tumours in various systems, most notably within the CNS and in the abdomen.

The main features can be recalled using the mnemonic HIPPEL (taken from the article on vHL):

  • Haemangioblastoma
  • Increased risk of RCC
  • Phaeochromocytoma
  • Pancreatic lesions (cysts, cystadenomas, cystadenocarcinomas)
  • Eye dysfunction (retinal haemangioblastomas)
  • Liver, renal and pancreatic cysts
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Case information

rID: 54972
Case created: 11th Aug 2017
Last edited: 20th Aug 2017
Inclusion in quiz mode: Included

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