Report Of 5 Cases Of VHL Syndrome And Review Of The Literature

BackgroundVHL syndrome is a rare autosomal dominant hereditary disease with complex clinical manifestations.It can affect many benign and malignant tumors such as the central nervous system,retina,and multiple organs of the abdomen.With the development of gene location,pathogenesis and molecular biology of the disease,Surgery is still the main treatment for neurosurgery,and some anti-angiogenic drugs have begun to be used in clinical practice.However,it is still in the clinical trial stage,and there is no comprehensive treatment thoroughly.ObjectiveTo explore the clinical features and treatment strategies of VHL syndrome to improve the understanding of the disease.MethodRetrospective analysis of the clinical characteristics and treatment of 5 patients with VHL syndrome in our department in recent years.ResultsThe diagnosis of VHL syndrome was definite in 5 cases(male 2 cases,female 3cases).All 5 cases underwent surgical resection,9 solid tumors were resected,and the pathology was hemangioblastoma.Case 1 belonged to the type of VHL2 A while remaining 4 cases belonged to VHL1 type.5 cases all had hemangioblastoma of central nervous system and renal cyst.Nervous system lesions were widespread in the cerebellum,spinal cord,brainstem,cauda equina and supratentorial regions.A clear family history was found in 3 patients,2 cases with retinal hemangioblastoma and 2 cases with pancreatic cyst,1 case with pheochromocytoma and 5 cases with central nervous system.In addition to the first operation of cases 1 patients,other 4patients with surgical excision of the nervous system tumor have been treated by multiple operations.The symptoms of all the patients were improved in varying degrees.ConclusionVHL syndrome lesions involving a wide range is still mainly in the single-subject symptomatic treatment.The disease has a 50% chance of inheritance to the next generation,and it has not fundamentally changed or found a new mature comprehensive treatment strategy.The multifocal and recurrent nature of VHL syndrome is destined for the majority of patients may need to undergo a number of surgical operation in their lifetime,and long term follow-up and periodic review should be maintained for VHL patients and their family members.