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Teaching video neuroimages: pulsatile proptosis.

Thanos D Papakostas1, Simmons Lessell

  • 1From the Department of Ophthalmology, Neuro-Ophthalmology Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston.

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Summary

A man with neurofibromatosis type 1 experienced pulsatile proptosis due to an osseous defect in his sphenoid bone. This case highlights a rare presentation of this genetic disorder.

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Area of Science:

  • Ophthalmology
  • Neurology
  • Genetics

Background:

  • Neurofibromatosis type 1 (NF1) is a genetic disorder that can affect multiple organ systems.
  • Ocular manifestations of NF1 include Lisch nodules and optic pathway gliomas.
  • Pulsatile proptosis is a rare but significant finding that requires prompt diagnosis.

Observation:

  • A 44-year-old male with NF1 presented with a 4 mm right exophthalmos and pulse-synchronous proptosis.
  • Ophthalmological examination revealed normal visual acuity and intraocular pressures, with Lisch nodules present bilaterally.
  • Cranial CT scan identified a large osseous defect of the greater wing of the right sphenoid bone.

Findings:

  • The osseous defect in the sphenoid bone is the likely cause of the pulsatile proptosis in this NF1 patient.
  • Absence of a bruit suggests that a carotid-cavernous fistula is less likely.
  • Differential diagnoses for pulsatile proptosis include sphenoid wing absence, carotid-cavernous fistula, orbital roof fractures, and arteriovenous malformations.

Implications:

  • This case underscores the importance of considering bony abnormalities in the differential diagnosis of pulsatile proptosis, especially in patients with NF1.
  • Early identification and management of such defects can prevent potential complications and preserve visual function.
  • Further research into the specific mechanisms linking NF1 to sphenoid wing defects may elucidate novel therapeutic targets.