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Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome.
- Source :
-
Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2020 Nov; Vol. 71 (5), pp. 655-662. - Publication Year :
- 2020
-
Abstract
- 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.<br />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.<br />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.<br />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.
Details
- Language :
- English
- ISSN :
- 1536-4801
- Volume :
- 71
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of pediatric gastroenterology and nutrition
- Publication Type :
- Academic Journal
- Accession number :
- 33093373
- Full Text :
- https://doi.org/10.1097/MPG.0000000000002883