THE JOURNAL OF SCHOOL AND UNIVERSITY MEDICINE - Volume 6 Issue 2, April - June 2019

Pages: 5-8

Date of Publication: 24-May-2019

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A RARE CASE OF VON HIPPEL-LINDAU DISEASE IN A STUDENT

Author: Pintea Ancuta

Category: Medical

Abstract:

The Von Hippel-Lindau syndrome belongs to a rare diseases category and it is autosomal dominant inherited. It is caused by an alteration of the VHL gene on the short arm of chromosome 3. The inci

dence of this syndrome is 1/36000 newborns. The Von Hippel-Lindau syndrome is characterized by benign or malign tumors at the level of several organs, tissues and systems in patients with a suggestive family medical history.

The presence of a retinal or cerebral hemangioblastoma can suggest a Van Hippel-Lindau syndrome

and imposes supplementary investigation for detecting the presence of tumors also in other organs. This syndrome can be detected from early childhood to young adult age.

Secondary prevention significantly increases the life expectancy for this category of patients. The present article presents the case study of a female student, 20 years old, with a positive family background for the Von Hippel-Lindau syndrome (father and brother both with a positive diagnosis), which manifested the first symptoms of the syndrome when she was 18 years old.

Keywords: boala Hippel-Lindau, studenta

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