- Department of Neurosurgery, Houston Methodist Neurological Institute, Methodist Hospital, Houston, TX, USA
- Department of Pathology and Laboratory Medicine and Ophthalmology, Weill Medical College of Cornell University, New York
- Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA
Correspondence Address:
Blake N. Staub
Department of Neurosurgery, Houston Methodist Neurological Institute, Methodist Hospital, Houston, TX, USA
DOI:10.4103/2152-7806.128430
Copyright: © 2014 Staub BN. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.How to cite this article: Staub BN, Livingston AD, Patricia Chévez-Barrios, Baskin DS. Hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel–Lindau disease. Surg Neurol Int 06-Mar-2014;5:33
How to cite this URL: Staub BN, Livingston AD, Patricia Chévez-Barrios, Baskin DS. Hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel–Lindau disease. Surg Neurol Int 06-Mar-2014;5:33. Available from: http://sni.wpengine.com/surgicalint_articles/hemangioblastoma-of-the-optic-nerve-producing-bilateral-optic-tract-edema-in-a-patient-with-von-hippel-lindau-disease/
Abstract
Background:The authors present a novel case of a hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel–Lindau disease (VHL). This is the only case in the literature documenting optic tract edema secondary to a hemangioblastoma of the optic nerve.
Case Description:The patient was a 34-year-old female in whom this lesion was causing retro-orbital pain and proptosis. She had previously lost vision in the symptomatic eye secondary to a retinal hemangioblastoma. The optic nerve lesion was excised by sectioning the optic nerve both proximally and distally to the lesion. There were no complications and patient's symptoms resolved postoperatively. A follow-up magnetic resonance imaging (MRI) scan revealed complete excision of the mass and resolution of the optic tract edema.
Conclusion:Optic nerve hemangioblastomas in patients with VHL are rare, but are manageable with meticulous microneurosurgery and with appropriate patient expectations. This is the first known case of an optic nerve hemangioblastoma producing bilateral optic tract edema, which resolved after resection of the prechiasmal tumor. Hemangioblastoma should remain in the differential diagnosis of optic nerve tumors, especially in the setting of VHL.
Keywords: Hemangioblastoma, optic nerve mass, optic-tract edema, von Hippel–Lindau
INTRODUCTION
Von-Hippal–Lindau (VHL) disease is an autosomal dominant disorder originating from a mutation of the VHL tumor suppressor gene on chromosome 3p25.[
Hemangioblastomas make up nearly 2% of all intracranial tumors and 10% of posterior fossa tumors in adults.[
It is common to see the reactive Rosenthal fibers mentioned above in brain adjacent to the mass. It is important to differentiate a hemangioblastoma from the much more malignant renal cell carcinoma. They often are very similar histologically, however, renal cell carcinomas are positive for CAM 5.2, RCC antigen, CD10, and EMA antibodies while hemangioblastomas are not.
Herein we report a case of an optic nerve hemangioblastoma in a patient with known VHL, which produced bilateral optic tract edema suggesting the diagnosis of an optic nerve glioma, and review the current literature.
CASE REPORT
This patient is a 34-year-old right-handed female with a known history of VHL disease. She presented to the neurosurgical service at Houston Methodist Hospital with a chief complaint of right retro-orbital pain and proptosis. She had previously undergone removal of a right retinal hemangioblastoma and was blind in the right eye, but the progressive pain and proptosis led to the discovery of a progressively enlarging lesion of the right optic nerve. Past history was notable for VHL and gastroesophageal reflux disease. In addition to the retinal lesion, she has previously undergone suboccipital craniectomy for excision of a cerebellar hemangioblastoma as well as a left sided acoustic neuroma. She harbors intramedullary tumors at the craniocervical junction as well as in the cauda equina. Her family history is significant for a son who has VHL. She has no knowledge of other family members with VHL as she does not know her biological father. Neurological examination is significant for blindness of the right eye and numbness in the perineum.
Magnetic resonance imaging (MRI) scans of the brain with and without gadolinium revealed an avidly enhancing mass of the right optic nerve distal to the optic chiasm involving the cisternal, canalicular, and orbital components of the nerve measuring 1.2 cm in maximal diameter [
Figure 1
Comparison of preoperative and postoperative MRI scans. (a) Preoperative T1-weighted contrast enhanced axial MRI showing brightly enhancing right optic nerve lesion (Red arrow). (b) Postoperative T1-weighted contrast enhanced axial MRI showing gross total excision of tumor. (c) Preoperative FLAIR MRI shows hyperintensity of bilateral optic tracts (Red arrows). (d) FLAIR signal extends into the right lateral geniculate nucleus (Red arrow). (e) Postoperative FLAIR MRI shows the optic tract hyperintensity is resolved
She underwent elective craniotomy and excision of the mass, which was performed through a standard fronto-temporal craniotomy. The sphenoid wing was drilled flush with the orbital roof and the dura was opened in a curvilinear fashion based on the sphenoid wing. The proximal Sylvian fissure was dissected sharply and gentle frontal lobe retraction was applied. The tumor was noted to have a red-tan appearance and was noted to tent the dura propria of the optic canal upward. The dura propria was incised sharply, and the orbital roof was opened utilizing a high speed diamond burr and 1 and 2 mm Cloward punches. The distal optic nerve was identified and divided followed by section of the nerve 1-2 mm distal to the chiasm. The ophthalmic artery was then identified, coagulated and cut [
Figure 2
Right anterior skull base exposure (a) Right anterior skull base exposure showing reddish optic nerve tumor. (b) Dura propria incised over optic nerve tumor. (c) Optic nerve sectioned distal to the chiasm (Blue arrow). Black arrow denotes right internal carotid artery. Green arrow denotes the chiasm
Neuropathological diagnosis confirmed hemangioblastoma with the tumor having marked vascularity with a vacuolated stroma [
Figure 3
Histopathology of hemangioblastoma involving the optic nerve orbital and intracraneal portions. (a) Low power view of cross sections of central portion of the optic nerve with tumor. Notice the vascularized tumor in the center and residual optic nerve tissue (*). The edges show cautery artifact (arrows). H and E, ×1 original magnification. (b) Higher magnification showing residual nerve fibers (*). Notice the vascular nature of the tumor and the foamy cells of the stroma. H and E, ×10 original magnification. (c) PAS stain highlights the basement membrane of the vessels and absence of glycogen or mucin in the vacuoles of the stromal cells. Periodic Acid Schiff (PAS), ×20 original magnification. (d) Close up of the two components of the tumor, the vessels and the vacuolated stromal cells. H and E, ×100 original magnification
The patient had an initial uncomplicated postoperative course and was discharged to home. She returned to the hospital 3 days after discharge with headaches. Repeat MRI of the brain revealed gross total excision of the mass as well as resolution of the FLAIR signal in the bilateral optic tracts. She is presently doing well, with resolution of her retro-orbital pain and no visual defect in the left eye.
DISCUSSION
VHL disease is an autosomal dominant syndrome that occurs secondary to defects in the VHL tumor suppressor gene. Patients with a complete deletion of the VHL gene have been found to have increased visual acuity and decreased incidence of retinal hemangioblastoma when compared with patients with a missense mutation.[
The development of tumors in VHL is thought to be a result of the “two-hit” hypothesis. One VHL allele is innately inactivated while the other allele is inactivated at the somatic level. This inactivation of the wild-type VHL allele is what leads to tumorogensis.[
The VHL protein functions by stimulating other angiogenic factors. The VHL protein is indirectly responsible for the ubiquitylation and thus deactivation of hypoxia-inducible factor (HIF).[
The differential diagnosis for a solitary optic nerve tumor includes optic nerve sheath meningiomas, gangliogliomas, meduloepitheliomas, hemangioblastomas, lymphoma, metastasis, granulomatous process, and retrobulbar neuritis.[
The imaging characteristics of an optic nerve hemangioblastoma help to differentiate it from other masses in the differential. Hemangioblastomas are generally well circumscribed, enhancing masses.[
In a thorough review of the English literature 19 cases, including the present case, of an optic nerve hemangioblastoma have been reported [
Meyerle et al. published a case series in 2008 reviewing the clinical course of retrobulbar hemangioblastomas.[
Without treatment all patients with an optic nerve hemangioblastoma will eventually lose vision in the affected eye. For this reason surgery is almost universally indicated. In Meyerle's series, all of the patients with a retrobulbar hemangioblastoma had a previously diagnosed retinal capillary hemangioblastoma presumably affecting their vision. The patient in this case also had a retinal lesion leaving her blind in her right eye. Obviously, when this is the case the surgeon can be more aggressive and full excision of the tumor via sectioning of the optic nerve itself can be performed.
In this case the optic nerve was sectioned 1-2 mm in front of the optic chiasm. This was done to spare the theoretical presence of decussating inferonasal fibers from the contralateral optic nerve as they project slightly anteriorly into the opposite optic nerve. This theoretical “knee” is more commonly referred to as Von Wilbrand's knee. It was postulated in 1904 by Herman Wilbrand. He studied cadaveric specimens, which had each suffered a traumatic enucleation at some point during their life. Recent papers have discounted its presence. Lee et al. have done living tissue optic nerve resections directly at the chiasm on three separate patients and failed to locate any anteriorly projecting, crossing fibers from the contralateral nerve.[
CONCLUSIONS
Optic nerve hemangioblastomas in patients with VHL are rare, but are manageable with meticulous microneurosurgery and with appropriate patient expectations. This is the first known case of an optic nerve hemangioblastoma producing bilateral optic tract edema, which resolved after resection of the prechiasmal tumor. Hemangioblastoma should remain in the differential diagnosis of optic nerve tumors, especially in the setting of VHL.
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