脊髄に血管芽腫が好発した von Hippel-Lindau 病の1家系

概要

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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 hemahgioblastomas 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 Th1, 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.
日本脳神経外科学会の論文
1986-12-15