Diagnosis and treatment of Von Hippel-Lindau syndrome:a report of 2 cases and literature review

WU Peng; GUAN Jiangheng; LU Yang; SONG Jian; XU Guozheng; XIE Hang; KONG Xianglin; WANG Zaigui

doi:10.13798/j.issn.1009-153X.2025.09.007

Abstract：Objective To investigate the clinical manifestations,diagnosis,and treatment strategies of Von Hip-pel-Lindau(VHL)syndrome.Methods The clinical data of two VHL patients admitted to General Hospital of Central Theater Command were retrospectively analyzed,and diagnostic and therapeutic experiences were summarized with a literature review.Results One patient was a sporadic case who presented to the ophthalmology department with decreased vision.Examination revealed tortuous and dilated retinal vessels with exudation.Fundus fluorescein angiography showed early arterial filling of the tumor,consistent with typical retinal hemangioblastoma.MRI revealed multiple lesions in the bilateral cerebellum and spinal cord,highly suggestive of hemangioblastoma,with mass effects leading to compression of the fourth ventricle and hydroceph-alus.Consequently,a midline posterior approach was performed to resect the left cerebellar lesion,alleviating the risk of severe cerebral herniation.Postoperative pathological diagnosis confirmed hemangioblastoma,and genetic testing detected a VHL gene mutation.The other patient had a clear family history and presented with headache and dizziness as initial symptoms.Although the diagnosis was straightforward,the disease course was characterized by repeated surgeries.Therefore,surgical intervention was performed to address obstructive or symptomatic recurrent fourth ventricular hemangioblastoma.Conclusions Early di-agnosis is crucial for VHL syndrome.A clear family history and corresponding genetic testing are key to definitive diagnosis.Multidisciplinary intervention and individualized management can significantly improve patient outcomes.