Back to Search
Start Over
Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome
- Source :
- Journal of Pediatric Gastroenterology and Nutrition, Vol. 71, No 5 (2020) pp. 655-662
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- Aims and background Ophthalmic abnormalities are amongst the five major criteria required for a diagnosis of Alagille syndrome (ALGS), of which embryotoxon, pseudo-papilledema, and hypopigmented retinopathy are the most common. Papilledema with or without intracranial hypertension (ICHT) is rarely described. We report nine pediatric cases of ALGS with bilateral papilledema, five 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 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 nine patients were normal. These nine patients were categorized into four groups: (1) a non-transplant group (n = 1), (2) a group with pretransplant papilledema persistent after liver transplantation (LT) (n = 2), (3) a group with papilledema occurring after LT with spontaneous resolution (n = 2), and (4) 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 two of the five 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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Eye Diseases
Hereditary/complications/diagnosis
medicine.medical_treatment
Liver transplantation
03 medical and health sciences
0302 clinical medicine
Papilledema/etiology
030225 pediatrics
Optic Nerve Diseases
Alagille syndrome
medicine
Humans
Child
Papilledema
Pseudopapilledema
ddc:618
business.industry
Gastroenterology
Eye Diseases, Hereditary
medicine.disease
eye diseases
Large cohort
Alagille Syndrome
Alagille Syndrome/complications/diagnosis
Intracranial Hypertension/complications/diagnosis
Pediatrics, Perinatology and Child Health
030211 gastroenterology & hepatology
Intracranial Hypertension
medicine.symptom
Bilateral papilledema
business
Acetazolamide
Retinopathy
medicine.drug
Subjects
Details
- ISSN :
- 15364801 and 02772116
- Volume :
- 71
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Gastroenterology & Nutrition
- Accession number :
- edsair.doi.dedup.....7fb03e4eb391b0fe4872df48c99852d7