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Von Hippel–Lindau Syndrome: MRI, CT Imaging, Hemangioblastoma, Endolymphatic Sac Tumor, Genetics, Diagnosis, Treatment, and AI-Assisted Radiology

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  Clinical Hook A 36-year-old man presented with several weeks of persistent nausea and recurrent vomiting. Initially, his symptoms were attributed to a gastrointestinal disorder, but the lack of improvement prompted further evaluation. Brain MRI revealed a cystic lesion in the right cerebellar hemisphere with an intensely enhancing mural nodule compressing the fourth ventricle. Additional MRI examinations of the cervical and lumbar spine demonstrated enhancing intramedullary lesions, while temporal bone CT identified an expansile destructive lesion centered on the vestibular aqueduct. Subsequent genetic testing confirmed Von Hippel–Lindau (VHL) syndrome , unifying these seemingly unrelated findings into a single hereditary tumor syndrome. This case illustrates one of the most important principles in diagnostic radiology: the significance of recognizing imaging patterns across multiple organ systems rather than interpreting each lesion in isolation . The diagnosis of VHL syndrome i...