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Show Journal of Neuro- Ophthalmology 14( 3): 181- 187. 1994 <• 1994 Raven Press, Ltd., New York Fourth Ventricular Hemangioblastoma Associated with Pheochromocytoma and Renal Medullary Fibroma Susan J. Ehrenpreis, M. D., Donald A. Kristt, M. D., and Daniele Rigamonti, M. D., F. A. C. S. Intraventricular hemangioblastomas are exceptionally rare. Of the cases described in the literature, very few were associated with von Hippel- Lindau disease. We present a highly unusual case of a fourth ventricular hemangioblastoma associated with a pheochromocytoma and a renal medullary fibroma. This may represent a forme fruste of the von Hippel- Lindau complex. A workup for papilledema resulted in the discovery of this rare finding. Key Words: Hemangioblastoma- Pheochromocytoma- Renal medullary fibroma. CASE REPORT A 39- year- old African American male presented in July 1993 with a 4- month history of decreased vision, severe intermittent occipital headaches, dizziness, paresthesias of the right side of the body, and gait disturbance. Visual acuity was 20/ 400 OD and hand motion OS. Pupils were equal in size, but reacted sluggishly to light. There was a 1 + afferent pupillary defect OS. Extraocular movements were intact. Corneal sensation was normal. There was neither proptosis nor resistance of the globes to retrodisplacement. Slit lamp examination and applanation tonometries were normal. Color vision was grossly abnormal as tested by red desaturation and Ishihara color plates. Visual fields to both confrontation and static automated perimetry revealed dense diffuse losses OU ( Fig. 1). Fundoscopy revealed bilateral chronic atrophic From the Friedenwald Eye Institute ( S. J. E.), Maryland General Hospital; Departments of Pathology and Neuropathology, University of Maryland Hospital; Department of Neurological Surgery ( D. R.), Johns Hopkins Hospital, Baltimore, Maryland, U. S. A. Address correspondence and reprint requests to Dr. Susan J. Ehrenpreis, Friedenwald Eye Institute, Maryland General Hospital, 827 Linden Avenue, Baltimore, MD 21201, U. S. A.; Tel.: ( 410) 225- 8077. papilledema ( Fig. 2). Maculas were normal and both retinas were flat and without lesions. There were no vascular abnormalities. Laboratory studies revealed a hemoglobin of 14.1 g/ dl and a hematocrit of 0.41. Serum chemistries were normal. Magnetic resonance imaging ( MRI) showed an enhancing midline mass near the area postrema and marked dilatation of the ventricles ( Fig. 3). Cerebral angiography confirmed a vascular mass in the midline of the floor of the fourth ventricle ( Figs. 4 and 5). A suboccipital craniotomy was performed for the total removal of a mass that originated from the floor of the fourth ventricle near the area postrema. Pathologic examination of the tumor showed the features typical of a hemangioblastoma. These included large numbers of small thin-walled, endothelial lined blood channels and typical intravascular foamy stromal cells. The tumor had a pushing border with surrounding tissue. Postoperatively, the patient was noted to have residual cranial nerve dysfunction, including bilateral seventh nerve weakness, diminished gag reflex, and bilateral internuclear ophthalmoplegia. An elective tracheostomy was performed to ensure airway protection. Approximately 2 weeks postoperatively, the patient was transferred from the intensive care unit to the floor in stable condition. He was alert and followed commands appropriately. However, on the following day, the patient unexpectedly collapsed. An MRI revealed diffuse watershed white matter infarcts, findings suggestive of a severe hypotensive episode. The patient's condition continued to deteriorate, and he expired during the fourth postoperative week. At autopsy, an acute bronchopneumonia was observed. Focal foreign body giant cell reaction was noted in the right lower lobe, indicative of a 183 * JiMT ^ I * H I * m 11** n n ii u p a n w ] nI |) ' IIII nII 1 : 4 It .1 il • • • p II « I • . i i nil DC • UCC. - m in; ™ *- Lintmr ELiau- r • H P • • • • • • • l • • • • • • • • • J • •. • > . » ,! S « > • LSI . r. i: a n M l. V* [ II ;:. « « I ' M p~- i^ rh -• 7 . W D= riunn i w irmi or* wa ' IK iimiv • iimmp mjiT. n FIG. 1. Humphrey visual field revealing dense, diffuse losses in both eyes. T lH « » : i :.> H^ tr| Nt * T F I K I .^ ' .1 * 1 si i • A- - 11 . i El R> F^ P .4 38 « M V 2 1 ! 1 « 2P • i ts " Jl • • lift • ma i • i n - l - i i d HUfTW » t^ J f= l TtVflFMTS possible aspiration pneumonia. The liver displayed an accumulation of lipofuscin. A medullary fibroma was present in the right kidney and a microscopic pheochromocytoma in the right adrenal medulla. The pheochromocytoma was immunore-active for chromogranin, synaptophysin, and neuron- specific enolase. At the family's request, the eyes and brain were excluded from postmortem examination. DISCUSSION Hemangioblastomas are benign vascular neoplasms that account for 1.1% to 2.4% of all central nervous system tumors and 7.3% of primary posterior fossa tumors in adults. These tumors are usually located in the cerebellar hemispheres, vermis, or medulla near the area postrema. Among patients with hemangioblastomas of the cerebellum or spinal cord 4% to 20% have von Hippel- Lindau disease- a genetic syndrome with variable penetrance. The hemangioblastomas are usually multiple and involve the cerebellum with or without involvement of the spinal cord. The diagnosis is substantiated by the presence of associated tumors, including retinal angiomas, renal or pancreatic cysts, and renal cell carcinoma ( 1- 4). Intraventricular hemangioblastomas are very rare. Only 6 cases have been described to date, out of 82 cases of supratentorial hemangioblastomas that we have been able to discover in the literature. Of these 6 cases, 3 were situated in the third ventricle and 3 in the lateral ventricle ( 5- 10). Only 1 of these cases occurred in a von Hippel- Lindau patient. In 1969, Rho ( 5) described a small hemangio-blastoma in the left lateral wall of the third ventri- ; Neuw- Ophtlmhiiol, Vol. 14, No. 3, 1994 FOURTH VENTRICULAR HEMANGIOBLASTOMA 185 FIG. 2. Fundoscopy revealed bilateral chronic atrophic papilledema. ( A) Right eye. ( B) Left eye. cle in a patient with polycythemia and von Hippel- Jndau disease. Hemangioblastomas, which have variably been called angioblastic meningiomas, angioreticulo-mas, hemangiomas, and Lindau tumors, are uncommonly found in the fourth ventricle ( 11- 15). Lindau ( 15) reported its occasional presence in the hindbrain and suggested a vascular anlage in or adjacent to the posterior end of the floor of the fourth ventricle as its source. Subsequently, Moller ( 16) found 3 cases in the floor of the fourth ventricle out of 27 cases of angioreticuloma. Olivecrona ( 12) found 5 such cases out of 70. In 1949, Mandeville and Sayhoun ( 17) reported a case of hemangioma of the fourth ventricle associated with unilateral pheochromocytoma, neurofibromatosis, and polyps of the ileum, cecum, cervix, FIG. 3. Sagittal view gadolinium- enhanced MRI showing an enhancing midline mass near the area pos-trema and marked dilatation of the ventricles. FIG. 4. Left vertebral angiogram ( lateral view) demonstrating left posterior inferior cerebellar artery enlargement ( thin arrow) with marked tumor blush ( thick arrow). Displacement of the choroidal point and the branches of the left posterior inferior cerebellar artery laterally indicate the tumor is midline at the floor of the fourth ventricle. / Neuro- OfMhalmol. Vol. U. No. 3, 1994 186 S. ]. EHRENPREIS ET AL. FIG. 5. Right vertebral angiogram ( lateral view) demonstrating that the tumor ( thick arrow) is also supplied by the right anterior inferior cerebellar artery branches ( thin arrow). and uterus ( 17). More recently, there have been reports of three successfully removed fourth ventricular hemangioblastomas by Nishimoto and Kawakami ( 18). Hemangioblastomas have been found to be associated with pheochromocytomas- sometimes on a familial basis. We do not know if there is a family history of similar tumors in the patient presented. In a review of 36 cases of von Hippel- Lindau disease by Hardwig and Robertson ( 19) there was only one case of pheochromocytoma. In the series published by Horton and associates ( 20), 5 of 50 affected individuals had pheochromocytoma, and, curiously, 4 of these 5 cases occurred in the same family ( 20). Other studies suggest that the reported frequency of pheochromocytomas in von Hippel- Lindau disease varies because these tumors tend to cluster within certain predisposed families ( 21- 23). Von Hippel- Lindau disease is an autosomal dominant disorder characterized by a variety of manifestations. Cerebellar hemangioblastomas are present in 35% to 60% of cases. As mentioned earlier, other well- known manifestations include retinal angiomas, pheochromocytomas, renal cell carcinoma, and multiple adenomatosis of various organs. The simultaneous occurrence of all in a single patient is uncommon ( 4,20,21,24- 26). Unlike classical von Hippel- Lindau disease, this case illustrates the rare occurrence of a hemangio-blastoma arising from the fourth ventricle in association with a pheochromocytoma and a renal medullary fibroma. This may represent a forme fruste of von Hippel- Lindau disease. Patients presenting with any of the stigmata of von Hippel- Lindau disease should have a thorough diagnostic workup. Hardwig and Robertson ( 19) recommend a detailed family history, careful ophthalmoscopy, complete blood count, and enhanced computed tomographic scan of the head, upper cervical cord, and abdomen. Although papilledema is often associated with intracranial pathology, this report describes a patient in whom papilledema was also associated with a rare systemic disease. REFERENCES 1. Rubinstein LJ. Tumors of the central nervous system. In: Atlas of tumor pathology, 2nd ser. Washington, DC: Armed Forces Institute of Pathology; 1972: 235- 41. 2. Russell DS, Rubinstein LJ. 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