Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review

Optic nerve hemangioblastomas (ONH) are rare tumors frequently associated with Von Hippel-Lindau (VHL) syndrome. They may mimic optic pathway gliomas (OPG), posing diagnostic and surgical challenges. We report a case of a 36-year-old male presenting with progressive blurry vision in the right eye ov...

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Main Authors: Ru Jian Jonathan Teoh, Kala Sumugam, Sharifah Intan Hosnaliza Syed Osman, Hairuddin Achmad, Nor Aizan Ab’llah @ Ariffin
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Rare
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Online Access:http://www.sciencedirect.com/science/article/pii/S2950008725000237
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author Ru Jian Jonathan Teoh
Kala Sumugam
Sharifah Intan Hosnaliza Syed Osman
Hairuddin Achmad
Nor Aizan Ab’llah @ Ariffin
author_facet Ru Jian Jonathan Teoh
Kala Sumugam
Sharifah Intan Hosnaliza Syed Osman
Hairuddin Achmad
Nor Aizan Ab’llah @ Ariffin
author_sort Ru Jian Jonathan Teoh
collection DOAJ
description Optic nerve hemangioblastomas (ONH) are rare tumors frequently associated with Von Hippel-Lindau (VHL) syndrome. They may mimic optic pathway gliomas (OPG), posing diagnostic and surgical challenges. We report a case of a 36-year-old male presenting with progressive blurry vision in the right eye over three months. Initial examination revealed unilateral axial proptosis, a positive relative afferent pupillary defect, and optic disc swelling. Initial magnetic resonance imaging revealed a lobulated, enhancing lesion involving the intra-orbital segment of the right optic nerve, which was presumed to be an OPG. Over five years of surveillance, the tumor progressed, causing new-onset headaches, worsening proptosis, and mass effect. Surgical debulking was performed, revealing a hemangioblastoma histologically. ONH should be considered in the differential diagnosis of optic pathway tumors, particularly in cases with atypical presentation or progression. Surgical intervention may be necessary for definitive diagnosis and management, and an association with VHL must be considered.
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publishDate 2025-01-01
publisher Elsevier
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series Rare
spelling doaj-art-1491c0e8b0c74765855c53947b8cc1c82025-08-20T02:16:50ZengElsevierRare2950-00872025-01-01310007910.1016/j.rare.2025.100079Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature reviewRu Jian Jonathan Teoh0Kala Sumugam1Sharifah Intan Hosnaliza Syed Osman2Hairuddin Achmad3Nor Aizan Ab’llah @ Ariffin4Department of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, MalaysiaDepartment of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia; Correspondence to: Department of Ophthalmology, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur 50586, Malaysia.Department of Ophthalmology, Hospital Kuala Lumpur, Kuala Lumpur, MalaysiaDepartment of Radiology, Hospital Kuala Lumpur, Kuala Lumpur, MalaysiaDepartment of Pathology, Hospital Kuala Lumpur, Kuala Lumpur, MalaysiaOptic nerve hemangioblastomas (ONH) are rare tumors frequently associated with Von Hippel-Lindau (VHL) syndrome. They may mimic optic pathway gliomas (OPG), posing diagnostic and surgical challenges. We report a case of a 36-year-old male presenting with progressive blurry vision in the right eye over three months. Initial examination revealed unilateral axial proptosis, a positive relative afferent pupillary defect, and optic disc swelling. Initial magnetic resonance imaging revealed a lobulated, enhancing lesion involving the intra-orbital segment of the right optic nerve, which was presumed to be an OPG. Over five years of surveillance, the tumor progressed, causing new-onset headaches, worsening proptosis, and mass effect. Surgical debulking was performed, revealing a hemangioblastoma histologically. ONH should be considered in the differential diagnosis of optic pathway tumors, particularly in cases with atypical presentation or progression. Surgical intervention may be necessary for definitive diagnosis and management, and an association with VHL must be considered.http://www.sciencedirect.com/science/article/pii/S2950008725000237Optic nerveHemangioblastomaOptic pathway gliomaVon Hippel-LindauTumor
spellingShingle Ru Jian Jonathan Teoh
Kala Sumugam
Sharifah Intan Hosnaliza Syed Osman
Hairuddin Achmad
Nor Aizan Ab’llah @ Ariffin
Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
Rare
Optic nerve
Hemangioblastoma
Optic pathway glioma
Von Hippel-Lindau
Tumor
title Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
title_full Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
title_fullStr Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
title_full_unstemmed Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
title_short Optic nerve hemangioblastoma mimicking optic pathway glioma: A case report and literature review
title_sort optic nerve hemangioblastoma mimicking optic pathway glioma a case report and literature review
topic Optic nerve
Hemangioblastoma
Optic pathway glioma
Von Hippel-Lindau
Tumor
url http://www.sciencedirect.com/science/article/pii/S2950008725000237
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AT sharifahintanhosnalizasyedosman opticnervehemangioblastomamimickingopticpathwaygliomaacasereportandliteraturereview
AT hairuddinachmad opticnervehemangioblastomamimickingopticpathwaygliomaacasereportandliteraturereview
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