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New research · Ophthalmology
Neuro-ophthalmology (Aeolus Press) · 12h
Case reportNeuro-ophthalmology (Aeolus Press) · 2026

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Muhammad A Khan, Danica Joseph, Chamil Dayajeewa … Kate Reid
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OphthalmologyCase report

Man with Alagille syndrome had markedly elevated intracranial pressure causing true papilledema

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

Muhammad A Khan … Kate Reid
Neuro-ophthalmology (Aeolus Press) · 2026
Background

Alagille syndrome (alagille syndrome) is a rare, multisystem, autosomal dominant disorder of variable penetrance, typically dominated by the consequences of bile duct paucity and congenital heart disease.

31
Results
31
cm H2O
spinal fluid pressure was very high, pointing to true brain-swelling optic damage
More results

Neuro-ophthalmic findings include optic disc swelling and cerebral vascular anomalies.

Here, we discuss the care of a lean young man with alagille syndrome and extreme optic disc swelling.

He had significant systemic co-morbidities, in the form of renal failure and anticoagulation after cardiac surgery.

More results

Cerebrospinal fluid shunting was deemed unwise, due to the high revision rate which so often follows.

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Conclusion

Screening for cerebral aneurysm is another important principle in the care of patients with alagille syndrome.

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