VHL-Associated Optic Nerve Hemangioblastoma Treated with Stereotactic Radiosurgery

Abstract

Central nervous system hemangioblastomas are generally restricted to the cerebellum, spinal cord, and brainstem. Supratentorial hemangioblastomas are uncommon, and optic nerve hemangioblastomas are extremely rare, with fewer than 25 reports including this case. In this report, we present the case of a 36-year-old woman with von Hippel–Lindau (VHL) disease who presented with progressive diminution of vision in the left eye due to a retrobulbar optic nerve hemangioblastoma. The patient had a history of cerebellar/spinal hemangioblastomas and pancreatic cysts, and her father and brother were patients with VHL disease. Gadolinium-enhanced magnetic resonance imaging showed intraorbital retrobulbar–enhanced mass on the left optic nerve. The optic nerve hemangioblastoma was treated with fractionated stereotactic radiosurgery using Novalis. Eighteen months after the stereotactic radiosurgery, the tumor volume decreased although the patient lost vision. This report presents an extremely rare case of optic nerve hemangioblastoma, which is the first case treated with stereotactic radiosurgery.

von Hippel-Lindau Syndrome: Genetic Study of Case With a Rare Pathogenic Variant With Optic Nerve Hemangioblastoma, a Rare Phenotypic Expression

“…VHLS type 2 was associated with missense variants that compromised VHL protein binding sites and was found in 83.5% of families (32). Patients with a complete deletion of the VHL gene have a decreased incidence of HB in comparison with patients with missense variants (3). The patient of the present report has a non-sense variant in heterozygosity that determined a premature stop codon (p.Trp88 * ).…”

“…The involvement of the optic nerve by a HB is extremely rare and the incidence is estimated as 1.3% in VHLS (3). The optic nerve HB may grow very slowly over a number of years (35,36).…”

“…The differential diagnosis for a solitary optic nerve tumor includes an optic nerve sheath meningioma, an optic schwannoma and an optic glioma (3). Most authors recommend close radiological and ophthalmological follow-up after the diagnosis of an optic nerve HB is made and would consider surgery based on the visual progression and growth in the size of the lesion (3,4). VHLS patients who present loss of vision not consistent with a retinal examination should be evaluated for an optic nerve HB (4).…”

“…VHLS is characterized by the presence of benign and/or malignant tumors, most of them of vascular origin, with the most frequent being hemangioblastoma (HB), usually located in the central nervous system (CNS), mainly in the brain and cerebellum (1,2), but also founded in the spinal cord and retina (1). Less than 5% of HBs present in the supratentorial compartment and optic nerve HBs are extremely rare, with the vast majority of this tumor occurs in patients with VHLS (3,4).…”

Retrobulbar Hemangioblastomas in von Hippel-Lindau Disease: Clinical Course and Management

“…In accordance to management of most VHL-associated hemangioblastomas, surgical resection is reserved for symptomatic or rapidly progressing lesions; however, there is no consensus on the optimal management of these retrobulbar lesions. 9,[17][18][19][20][21][22][23][24][25][26][27][28] Here, we present 18 patients with VHL-associated retrobulbar hemangioblastomas and their clinical course as well as their management.…”