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Reminder of important clinical lesson
Von Hippel Lindau disease: keep it in the family
  1. Michael Adly Mikhail,
  2. Jia Ng,
  3. Joseph Mathew,
  4. Zachariah Koshy
  1. University Hospital Ayr, NHS Ayrshie and Arran, Ayr, UK
  1. Correspondence to Dr Michael Adly Mikhail, drmok{at}hotmail.co.uk

Summary

We describe a case of von Hippel-Lindau disease (VHL) through three generations of the same family. First presentation was a young female with a 6-week history of headaches behind the eyes. On examination she was found to have bilateral retinal capillary haemangiomas (RCH). Preliminary diagnosis of VHL was suspected and further investigations confirmed the initial diagnosis. The patient was found to have pancreatic and kidney lesions and her mother had a cerebellar haemangioblastoma. Following genetic testing, the VHL gene appeared in the 9-year-old boy. On recent presymptomatic ophthalmic screening, the child was found to have RCH. Both patient and child's RCHs were successfully managed with a variety of treatments.

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