Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients with Alagille syndrome
(2020) Journal of Pediatric Gastroenterology and Nutrition — Vol. 71, n° 5, p. 655-662 (2020)
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- Authors
Demaret, Tanguy 
Sokal, Etienne
- Abstract
- (en) AIMS AND BACKGROUND: Ophthalmic abnormalities are amongst the 5 major criteria required for a diagnosis of Alagille syndrome (ALGS), of which embryotoxon, pseudopapilledema, and hypopigmented retinopathy are the most common. Papilledema with or without intracranial hypertension (ICHT) is rarely described. We report 9 pediatric cases of ALGS with bilateral papilledema, 5 of which were diagnosed with ICHT. METHODS: The ophthalmic data from 85 patients with clinically and/or genetically (n = 37) proven ALGS were reviewed. The study inclusion criteria were a positive diagnosis of ALGS and availability of ophthalmic follow-up data. Ophthalmic data from 40 patients after liver transplantation (LT) for other indications were also analyzed. RESULTS: Nine (13.0%) of the 69 patients meeting the inclusion criteria had papilledema. The neurological and neuroimaging results in all 9 patients were normal. These 9 patients were categorized into 4 groups: a nontransplant group (n = 1), a group with pretransplant papilledema persistent after LT (n = 2), a group with papilledema occurring after LT with spontaneous resolution (n = 1), and a group with papilledema and signs of ICHT after LT (n = 5). The patients with ICHT were treated with steroids alone (n = 1) or with acetazolamide (n = 4). A ventriculoperitoneal shunt was placed in 2 of the 5 cases because of progressive visual loss. Pseudopapilledema was present in 10 additional patients (14.5%, 10/69). One (2.5%) of the 40 patients without ALGS developed papilledema after LT. CONCLUSIONS: True ICHT may be underdiagnosed in patients with ALGS. Our findings underscore the need for close ophthalmic follow-up before and after LT in these patients.
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Citations
Rock, N., Demaret, T., Stephenne, X., Scheers, I., Smets, F., McLin, V. A., Boschi, A., & Sokal, E. (2020). Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients with Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition, 71(5), 655-662. https://doi.org/10.1097/mpg.0000000000002883 (Original work published 2020)