Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report

Alagille syndrome (ALGS) is a rare, multisystem, autosomal dominant disorder of variable penetrance, typically dominated by the consequences of bile duct paucity and congenital heart disease. Neuro-ophthalmic findings include optic disc swelling and cerebral vascular anomalies. Here, we discuss the care of a lean young man with ALGS and extreme optic disc swelling. He had significant systemic co-morbidities, in the form of renal failure and anticoagulation after cardiac surgery. His disc swelling proved to be due to a combination of pseudopapilledema from ALGS glial proliferation with possible drusen, and true papilledema, with cerebrospinal fluid (CSF) opening pressure of 31 cm H2O at lumbar puncture. Despite renally adjusted acetazolamide and topiramate, field loss beyond blind spot enlargement emerged. CSF shunting was deemed unwise, due to the high revision rate which so often follows. Bilateral optic nerve sheath fenestration was therefore undertaken, and succeeded in reversing the new field loss. Disc swelling did not decline dramatically, due to the ALGS pseudopapilledema as well as the presumed chronicity of the patient's papilledema. Since pseudopapilledema and papilledema can co-exist in ALGS, it is important to adequately distinguish them, ensuring that the emerging visual threat from true papilledema is not overlooked. Systemic comorbidities of the syndrome will need thoughtful care from a co-ordinated multidisciplinary team when treating the papilledema. Screening for cerebral aneurysm is another important principle in the care of patients with ALGS.