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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.

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Results

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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.

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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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Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

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

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