Optic nerve glioma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Optic nerve glioma must be differentiated from other diseases that cause optic nerve enlargement such as optic nerve sheath meningioma, orbital pseudotumor, optic neuritis, orbital lymphomas, metastasis, fibrous dysplasia, paranasal mucocele, rhabdomyosarcoma, neurofibromatosis, perioptic haemorrhage, Erdheim-Chester disease, juvenile xanthogranuloma, medulloepithelioma, retinoblastoma, Krabbe disease, optic nerve and chiasm glioma such as germinoma and sarcoidosis, and optic chiasm glioma extending into the hypothalamus such as pituitary adenoma, craniopharyngioma, malignant astrocytoma, dermoid cyst, chordoma, colloid cyst, histiocytosis X, tuberculous granuloma, and hemangloendothelioma.[1]

Differentiating Optic nerve glioma from other diseases

  • The major differential diagnostic considerations when an enlarged optic nerve is identified on imaging are
    • inflammatory (neuritis, infection, or pseudotumor)
    • Neoplastic,
    • Result of increased intracranial pressure.
  • Distinguishing inflammatory from neoplastic processes of the nerves is difficult because both may demonstrate optic-nerve enlargement with or without contrast enhancement.
  • Clinical history can then be used to determine the underlying cause.
  • Unilateral involvement, no pain on extra-ocular movement, no systemic inflammatory signs at around the onset of visual loss, no additional white-matter abnormality or recurrent visual symptoms during follow-up period might support a diagnosis of optic-nerve glioma rather than optic neuritis in childhood.
  • Other tumorous conditions such as lymphoma or inflammatory pseudo-tumor may be ruled in the absence of a history of painful ophthalmoplegia or a rapid deterioration of symptoms during follow-up.


Differentiating Optic nerve glioma from other diseases
Optic nerve glioma
  • Hemangioma, Lymphoma, Rhabdomyosarcoma, Metastases (Neuroblastoma,
  • Leukamia, Ewing’s sarcoma), Fibrous dysplasia, Paranasal mucocoele, Meningioma, Neurofibromatosis
Optic nerve and chiasm glioma
  • Germinoma, Sarcoidosis


Optic chiasm glioma extending into the hypothalamus
  • Pituitary adenoma, Craniopharyngioma, Malignant astrocytoma
  • Dermoid cyst, Chordoma, Colloid cyst, Fibrous dyplasia, Sarcoidosis, Histiocytosis X, Tuberculous granuloma, Hemangloendothelioma



Disease/Condition Clinical presentation Demographics/History Diagnosis Other notes
Retinoblastoma[2][3]
Coats'disease[4][5]
  • Sporadic in 100% of the cases
  • Almost always unilateral
  • More common among boys
  • The median age of diagnosis 5 to 9 years
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)[5]
Astrocytic hamartoma[6]
Retinopathy of prematurity (ROP)[6]
  • Short axial length of eyes
Ocular toxocariasis [6]
  • Presence of retinal and/or vitreous traction in approximately all of the cases
Familial Exudative Vitreoretinopathy (FEVR)[7]
Norrie’s Disease[6][8]

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Coloboma[6]
MRI of the orbit showing Coats disease - Case courtesy of Dr Michael Sargent, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/6089
MRI of the orbit showing retinal detachment - Case courtesy of A.Prof Frank Gaillard, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/3134
MRI of the orbit showing retinoblastoma - Case courtesy of https://radiopaedia.org/. From the case https://radiopaedia.org/cases/11877
CT head showing hyperthyroid-induced orbitopathy - Case courtesy of A.Prof Frank Gaillard, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/4854

References

  1. Optic nerve glioma. Radiopedia(2015) http://radiopaedia.org/articles/optic-nerve-glioma Accessed on October 2 2015
  2. Butros LJ, Abramson DH, Dunkel IJ (March 2002). "Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences". Pediatrics. 109 (3): E45. PMID 11875173.
  3. Sachdeva R, Schoenfield L, Marcotty A, Singh AD (June 2011). "Retinoblastoma with autoinfarction presenting as orbital cellulitis". J AAPOS. 15 (3): 302–4. doi:10.1016/j.jaapos.2011.02.013. PMID 21680213.
  4. Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG (December 2011). "Retinoblastoma with Coats' response". Ophthalmic Surg Lasers Imaging. 42 Online: e139–43. doi:10.3928/15428877-20111208-04. PMID 22165951.
  5. 5.0 5.1 Gupta N, Beri S, D'souza P (June 2009). "Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease". J Pediatr Ophthalmol Strabismus. doi:10.3928/01913913-20090616-04. PMID 19645389.
  6. 6.0 6.1 6.2 6.3 6.4 Singh, Arun (2015). Clinical ophthalmic oncology : retinoblastoma. Heidelberg: Springer. ISBN 978-3-662-43451-2.
  7. Gerstenblith, Adam (2012). The Wills eye manual : office and emergency room diagnosis and treatment of eye disease. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. ISBN 978-1451109382.
  8. Howard GM, Ellsworth RM (October 1965). "Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma". Am. J. Ophthalmol. 60 (4): 610–8. PMID 5897773.

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