Von Hippel Lindau disease: keep it in the family. (14th December 2012)

• Record Type: Journal Article
• Authors: Mikhail, Michael Adly; Ng, Jia; Mathew, Joseph; Koshy, Zachariah
• Is Part Of: BMJ case reports. Volume 2012
• Publication Date: 2012-12-14
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2012-007851
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : 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.