VHL syndrome ( Von Hippel Lindau Syndrome )
Rare
Prevalence of 1 /36,000.
Mutations in the VHL gene (Chr 3p)
AD
Retinal capillary haemangioma
Haemangioblastoma of cerebellum
Haemangioblastoma of spinal cord or brainstem
Renal cell carcinoma
Phaeochromocytoma
Islet cell carcinoma
Epididymal cysts/adenomas
Visceral cysts.
Von Hippel Lindau Syndrome power point presentations
Von Hippel Lindau Syndrome
- Von Hippel –Lindau disease David Sutton Ch 30 / page 937 Presented by Dr Laith Fadhel Al Hialy MBchB . PGCR
- Von Hippel-Lindau syndrome (VHL) is an autosomal dominant , neurocutaneous disorder , have high incidence of multiple cysts in variety of organs , and tumor association • Kidneys 75% •Liver and spleen 50 % •Pancreas cysts ,insufficiency and DM •RCC 25-40 % multifocal 75 % •Cerebellar Hemangioblastoma •Retinal angioma •Pancreatic adenocarcenoma & adenoma •Epidyimal cyst adenoma •Pheochromcytoma
- Cerebellar Hemangioblastoma
- Retinal angioma
- Pancreatic adenocarcenoma & cysts
- Pheochromcytoma
- RCC 25-40 % multifocal 75 % On MRI / intermediate signal on T1 , weighted , intermediate or high on T2 , w , high signal on STIR 10-15 % cystic enhance with contrast , destroyed renal structure , DDX infiltrative TCC
- RCC By CT On CT / iso – hypo dense to renal tissue , occasionally hyper dense variable enhancement / 1/3 show calcification
- RCC By IVU On IVU / soft tissue mass , 10 % show calcification ( dense – central – amorphous ) displaces calyces , distorts renal outline , loss renal function { tumor less than 3 cm not seen by IVU }
Von Hippel Lindau Syndrome Videos:
Von hipple-Lindau Disease ( VHL ) – Case based discussion USMLE
Von Hippel-Lindau disease (VHL) is a rare genetic disease of abnormal growth of blood vessels (angiomatosis). Capillaries join together to form benign tumors and cysts in different parts of the body. These have the potential for malignant transformation. VHL is characterized by the formation of hemangioblastomas of the central nervous system (CNS) and retina as well as renal cysts, renal cell carcinoma, pheochromocytoma, pancreatic neoplasms, and inner ear tumors. Clinical presentations are variable depending on the size and location of the growths. Symptoms commonly present in adolescence or early adulthood although they can manifest at any age. VHL has autosomal dominant inheritance, and is caused by mutations in the VHL gene. Associated morbidity and mortality are determined by the extent of organ system involvement. Patients require long-term surveillance for malignancy and other complications. Management is multidisciplinary and may involve ophthalmology, neurology, endocrinology, nephrology, nutritional, and surgical consultation.
Von Hippel Lindau disease – Case based discussion Usmle step 1 Pathology
Von Hippel-Lindau syndrome (VHL) is a hereditary condition associated with tumors arising in multiple organs. The tumors in VHL include hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. The eye tumors are also called retinal angiomas.
Von Hippel Lindau Syndrome
Von Hippel Lindau Syndrome
