Hippel-Lindau disease: MR imaging

Y Sato, M Waziri, W Smith, E Frey, W T Yuh, J Hanson, E A Franken
Radiology 1988, 166 (1 Pt 1): 241-6
Hippel-Lindau disease is an auto-somal-dominant disorder characterized by tumors arising from the central nervous system and abdominal viscera. Because of its progressive nature, frequent multisystem radiologic evaluation of affected persons and family members at risk is desirable for early detection and treatment. During a 2-year study, magnetic resonance (MR) imaging of the head, spine, and abdomen was used for screening and follow-up in 26 members of nine families with the disease. In addition to 13 previously diagnosed cases, five cases were newly diagnosed during the study. Lesions causing significant morbidity and mortality--such as cerebellar and spinal cord hemangioblastoma, renal cell carcinoma, and pheochromocytoma--were correctly depicted with MR imaging, sometimes before symptoms had developed and before the lesions could be seen with other imaging modalities. Central nervous system abnormalities were most clearly shown, but MR imaging also adequately demonstrated abdominal visceral abnormalities. It is therefore highly useful in the diagnosis and follow-up of Hippel-Lindau disease.

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