Article
Pulsating exophthalmus in sphenoid wing aplasia – a distinct presentation of NF1
Pulsierender Exophthalmus infolge Keilbeinflügelaplasie – eine seltene Manifestation bei NF1
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Authors
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T. Schweitzer
- Department of Neurosurgery, Julius-Maximilians University of Wuerzburg
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K. Kniese
- Department of Neurosurgery, Klinikum Hannover Nordstadt
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H. Collmann
- Department of Neurosurgery, Julius-Maximilians University of Wuerzburg
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K. Roosen
- Department of Neurosurgery, Julius-Maximilians University of Wuerzburg
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C. Matthies
- Department of Neurosurgery, Julius-Maximilians University of Wuerzburg
| Published: | May 8, 2006 |
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Outline
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Objective: Pulsating exophthalmus is a rare clinical entity mostly associated with a vascular intracranial lesion. At presentation in young adults and with the coincidence of ptosis or seemingly deformed eye lids a rare characteristic of neurofibromatosis type 1 must be suspected, carefully diagnosed and prepared for surgical therapy.
Methods: Five patients (three males and two females) presented with a functional and a cosmetic problem: Deteriorating ptosis with visual deficits and increasing exophthalmus had been noticed since childhood, but became more problematic during puberty. Most patients showed a thickening of their eyelid only on the affected side, a functionally complete ptosis, a severe exophthalmus, a fixed eye globe with complete oculomotor palsy. MRI and CT demonstrated a brain prolapse with herniation of the fronto-temporal lobes into the orbit due to an absent greater sphenoid wing. The eyelid was infiltrated by neurofibromas. Further typical signs of NF1 were rather mild with some café-au-lait spots and scarce peripheral or cutaneous neurofibromas. For treatment, all the patients were offered decompression of the orbit by reconstruction of the sphenoid wing, while surgery of the eyelids was put second for plastic surgery.
Results: For reconstruction procedure of the sphenoid wing either autologous bone or methyl-metacrylate plasty or titanium mesh were applied. In one patient auto-destructive disappearance of the autologous bone implant occurred and necessitated further reconstruction with methyl-metacrylate. After reconstruction the exophthalmus and related symptoms such as eye globe pulsations, and headache disappeared and eye globe mobility improved greatly. While visual acuity remained unchanged after the procedure, functional ptosis recovered only partially. Additional tumour removal at the eye lid and plastic surgery improved the cosmetic outcome to a minor degree.
Conclusions: The disappearance of autologous bone implant provides a new aspect to the discussion on the origin of sphenoid wing aplasia as a possible primary congenital or secondary dysplastic lesion. Sphenoid wing reconstruction is an effective method to treat brain herniation and pulsating exophthalmus in NF1. While cosmetic appearance and functional results are improved, impaired vision persists in most patients due to deformed and tumorous eye lids and ptosis.
