Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome.
J Pediatr Gastroenterol Nutr
; 71(5): 655-662, 2020 11.
Article
in En
| MEDLINE
| ID: mdl-33093373
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.METHODS:
The ophthalmic data from 85 patients with clinically and/or genetically (nâ=â37) 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 (nâ=â1), a group with pretransplant papilledema persistent after LT (nâ=â2), a group with papilledema occurring after LT with spontaneous resolution (nâ=â1), and a group with papilledema and signs of ICHT after LT (nâ=â5). The patients with ICHT were treated with steroids alone (nâ=â1) or with acetazolamide (nâ=â4). 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Eye Diseases, Hereditary
/
Optic Nerve Diseases
/
Papilledema
/
Alagille Syndrome
/
Intracranial Hypertension
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limits:
Child
/
Humans
Language:
En
Journal:
J Pediatr Gastroenterol Nutr
Year:
2020
Document type:
Article
Affiliation country:
Bélgica