Julia R. Fielding, M.D. Brigham and Women's Hospital, Harvard Medical School Boston, Massachusetts

T1-weighted, axial, contrast-enhanced MR images of the brain reveal a cystic cerebellar lesion with an enhancing nodule arising from the wall (Figure 1). Contrast enhanced CT examination of the abdomen and pelvis performed prior to craniotomy showed multiple low density cystic lesions arising from both kidneys (Figure 2). What is the diagnosis? What should be done in the future to follow the patient?.

Answer: von Hippel-Lindau disease. This autosomal dominant disorder is one of the phakomatoses and can often be definitively diagnosed with genetic testing. Manifestations include hemangioblastomas of the central nervous system, cysts of the pancreas and kidneys, retinal hemangioblastomas, pheochromocytomas, epididymal cystadenomas and renal cell carcinoma. This patient will require yearly follow-up using MRI or CT to monitor the kidneys for tumor occurrence.

Reference:

Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM and Zbar B.
Von Hippel-Lindau Disease: Genetic, Clinical and Imaging Features. Radiology 1995; 194:629-642