Von Hippel – Lindau Disease, Involvement of Multiple Members of the Same Families
Keywords:
Hippel-Lindau disease,, germline mutation, tumour suppressor gene, penetrant autosomal dominant traitAbstract
Von Hippel – Lindau disease is a heritable multisystem cancer syndrome that is associated with a germline mutation of the VHL tumour suppressor gene on the short arm of chromosome 3. This disorder is not rare (about one in 36 000 live births) and is inherited as a highly penetrant autosomal dominant trait (i.e. with a high individual risk of disease). Affected individuals are at risk of developing various benign and malignant tumours of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive adnexal organs. Because of the complexities associated with management of the various types of tumours in this disease, treatment is multi-disciplinary.
Objectives: We present an overview of the clinical aspects, management, and treatment options for von Hippel-Lindau disease in three families, a total number of 7 patients.
Study Design: It was a descriptive observational study.
Material and Methods: In this study we included 7 patients belonging to 3 families. In the first family there was a father and a son, both of them had Von Hippel-Lindau disease. In the second family two sisters and one brother was involved, while in the third family one brother and one sister had this disease. This study was conducted in the Department of Neurosurgery, Lahore General Hospital, Lahore.
Results: In this study we observed that 1 out of 7 patients died, 1 is bed ridden with paraparesis. The rest 5 patients are passing their normal routine life. We observed that in all of our patients (100%) there was CNS involvement, the recurrence in our series is quite high. (70%), 3 of our patients required permanent V.P. Shunt while 1 patient required per operative EVD. In 2 of our patients eye surgery was required. 1 of our patient underwent the Gama Knife (Radio surgery).
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