Hemangioblastoma of the optic nerve

Abstract

Optic nerve hemangioblastoma (ONH) is a rare tumor that is usually unilateral and most commonl occurs in the context of von Hippel-Lindau (VHL) disease. Differential diagnosis is based on clinical history and imaging. Magnetic resonance imaging with gadolinium enhancement is the most useful imaging modality as it can reveal flow voids and an absence of dural attachment, differentiating ONH from other more commonly encountered optic nerve tumors. ONH are usually well-circumscribed vascular lesions composed of stromal cells and vascular endothelial cells. These lesions are diagnosed at a mean age of 37 years and can be asymptomatic, but over time patients may develop reduction in vision, proptosis, and pain. Surgical excision is well described via orbital, transsphenoidal or transcranial approaches. Given the risks associated with surgery, a stepwise conservative approach is advocated by most clinicians in the absence of severe symptoms. Although uncommon, this optic nerve tumor should be considered in young patients presenting with pain, proptosis, and optic nerve pallor, with or without a history of VHL disease.

Optic nerve Hemangioblastoma with bilateral frontal lobe Oedema: a case report

“…HBLs are benign tumours of the central nervous system that originate from the mesenchymal tissue surrounding the blood vessels and are remnants of mesodermal cells. HBLs account for only 1–2% of primary tumours in the central nervous system, and are most commonly found in the subtentorium or spinal cord [ 1 , 2 ]. Clinically, HBLs are associated with VHL syndrome, an autosomal dominant genetic disease [ 3 ], with approximately 20% of patients having a family history.…”

“…The diagnosis of retrobulbar tumorus can be confirmed by neuroimaging, but the nature of the tumours is not clear. A total of 35 cases of optic nerve HBLs have been reported in the literature, 71% (25 cases) of which were associated with VHL syndrome [ 1 ]. Therefore, when diagnosing optic nerve HBLs, whole-body nerve tissues and organs should be examined to determine whether VHL syndrome also exists.…”

“…Larger HBLs usually have visible irregular flow cavities adjacent to the nodules, but these are rarely seen on the smaller HBLs [ 7 ]. In addition, the oedema of surrounding tissue caused by the tumour and the blood vessel flow void can be clearly observed on T2-weighted images, which strongly suggests the existence of HBL [ 1 ].…”

Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review

“…Approximately 30% of HGBs are associated with von Hippel-Lindau (VHL) disease and are often multifocal, situated in the spinal cord, cerebellum and brainstem (1,5,6). HGBs in the sellar region or suprasellar region are relatively uncommon, and optic nerve HGBs are extremely rare, with approximately 40 reports in the literature, including this case (7)(8)(9).…”

Neuroimaging Features of Optic Nerve Hemangioblastoma Identified by Conventional and Advanced Magnetic Resonance Techniques: A Case Report and Literature Review

“…Unlike hemangioblastoma in cerebellum and other locations, most ONH (71%) were found to be associated with VHL syndrome. Visual defects and exophthalmos are the most common symptoms ( 5 ). However, these symptoms are unspecific and therefore have limited values in diagnosis.…”