Related Experiment Video
Updated: Sep 3, 2025
06:39
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
Published on: August 24, 2018
6.8K
Von Hippel-Lindau disease: A case report
Durga Neupane1, Alok Dahal2, Nimesh Lageju1
1Department of Surgery, B.P. Koirala Institute of Health Sciences, Dharan, Nepal.
International Journal of Surgery Case Reports
|July 28, 2022
Summary
Von Hippel-Lindau (VHL) disease is a rare genetic disorder causing tumors and cysts. Surgical treatment of central nervous system lesions in a VHL patient led to significant symptom improvement and recovery.
Area of Science:
- Genetics
- Oncology
- Neurology
Background:
- Von Hippel-Lindau (VHL) disease is a rare autosomal dominant inherited genetic condition.
- It affects approximately 1 in 36,000 live births.
- VHL disease is characterized by the development of benign and malignant tumors and cysts in various organs.
Purpose of the Study:
- To report a case of VHL disease with central nervous system (CNS) lesions.
- To describe the surgical treatment and outcomes for a patient with VHL disease.
- To highlight the importance of timely diagnosis and management in VHL disease.
Main Methods:
- Case presentation of a 50-year-old male diagnosed with VHL disease.
- Surgical intervention for central nervous system (CNS) lesions.
- Clinical follow-up at 3 months post-surgery.
Main Results:
- The patient presented with multiple CNS lesions, retinal lesions, and renal cortical cysts.
- Surgical treatment resulted in drastic improvement.
- Marked alleviation of signs and symptoms was observed at 3-month follow-up.
Conclusions:
- VHL disease is an autosomal dominant disorder with near-complete penetrance, leading to tumors and cysts in multiple organs.
- Surgical treatment of CNS lesions is a key management strategy.
- Regular follow-up, genetic testing, and financial support are crucial for VHL patients and families.
