A Case Report of Moyamoya Disease Associated with Neurofibromatosis type I and Pheochromocytoma.

Korean J Leg Med. 2001 Oct;25(2):58-63. Korean.

Department of Forensic medicine, National Institute of Scientific Investigation.

We recently encountered a rare autopsy case of neurofibromatosis type I(von Reckli- nghausen disease) associated with both Moyamoya disease and pheochromocytoma. A 36-year-old male died of subarachnoid and intracerebral hemorrhage, who had history of three times of head surgery due to head trauma since the age of 16, and abdominal surgery for inflammed granulation tissue with central abscess. On examination, he had numerous cafe au lait spots, and multiple sessile and pedunculated greysh yellow nodules varying in size on the skin of the whole body, histopathologically being proven neurofibromas. At the base of the brain, abnormal complex vascular networks were recognized around the circle of Willis. Microscopically, some of blood vessels showed eccentric intimal fibrous thickening and tortuous internal elastic lamina, a finding which is consistent with Moyamoya vessels. Also, a pheochromocytoma on right adrenal gland was incidentally found. To the best of our knowledge, this unique combination has never been reported in Korea.

Key Words : Neurofibromatosis, Moyamoya disease, Subarachnoid hemorrhage, Pheochromocytoma