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E1127. Eluciating the Spectrum of Multiorgan Manifestations of von Hippel-Lindau Syndrome
Authors
  1. Mindy Wang; University of Texas at Houston
  2. Jeanie Choi; University of Texas at Houston
  3. Venkateswar Surabhi; University of Texas at Houston
  4. Steven Chua; University of Texas at Houston
Background
von Hippel-Lindau (VHL) disease is a rare, autosomal dominant disorder with a wide spectrum of manifestations. Radiologic diagnosis plays an important role in early diagnosis of VHL lesions and can improve the patient’s quality of life. Renal cell carcinomas and complications from cerebellar hemangioblastomas predominantly contribute to patient mortality. Different imaging modalities, including ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI), are used for the diagnosis and follow-up of various lesions. The objective is to review the clinical presentation, multiorgan manifestations through various imaging modalities, and the recommendations for surveillance and screening of VHL lesions.

Educational Goals / Teaching Points
The educational goals of this exhibit are to review the clinical presentation and genetics of VHL syndrome, depict the multiorgan manifestations of VHL disease through various imaging modalities, and discuss the recommendations of surveillance and screening of VHL lesions in order to aid early diagnosis and improve quality of life for patients.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
While VHL is a rarely encountered multisystem disorder, recognizing and diagnosing its various manifestations is essential in aiding early diagnosis and improving the patient’s quality of life. The wide spectrum of imaging findings include: retinal hemangioblastomas, central nervous system (CNS) hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, neuroendocrine pancreatic tumors, pheochromocytomas, and epididymal papillary cystadenomas, which will all be reviewed in this exhibit. Renal cell carcinomas and complications from cerebellar hemangioblastomas greatly contribute to the patient’s mortality. However, many of these lesions are treatable. Therefore, early screening with various imaging modalities, including US, CT and MRI, allow for early detection and prompt treatment. This case-based review of VHL will emphasize key imaging findings and the importance of long-term surveillance.

Conclusion
VHL is a multiorgan disorder that presents with a wide spectrum of benign and malignant tumors that require appropriate and timely diagnosis in order to enhance patient longevity and quality of life. Imaging serves an essential role in the initial diagnosis and subsequent follow-up of the various lesions.