脊髄に血管芽腫が好発したvon Hippel-Hndau病の1家系

抄録

A family with von Hippel-Lindau's disease is reported. In this family four members were affected and three of the four had spinal hemangioblastomas. In two of them the spinal hemangioblastomas were multiple. Case 1, 22-year-old man with hemangioblastomas in the medulla oblongata and right cerebellum. Case 2, 45-year-old woman, mother of Case 1 with hemangioblastoma in the spinal cord at the level of Th3-4, retinal hemangioma, and ovarian cyst. Case 3, 26-year-old woman, niece of Case 2 with hemangioblastomas in the cerebellum and spinal cord at the levels of C3-4, Th8, and Th9, retinal hemangioma, liver cyst, and pancreatic cyst. Case 4, 29-year-old man, brother of Case 3 with hemangioblastomas in the medulla oblongata and spinal cord at the levels of Thl, Th2-3, and Th3-4, retinal hemangioma, liver tumor, and epididymis tumor. All medullary and spinal hemangioblastomas but one were totally removed. In Case 4 a hemangioblastoma at the level of Th2-3, which was thought to be in the ventral aspect of the spinal cord, could not be identified during surgery.
Spinal hemangioblastoma in von Hippel-Lindau's disease is rarely seen. Spinal angiography is useful for diagnosis but may not identify small hemangioblastomas. Removal of hemangioblastomas in the spinal cord can be done under operating microscope.