Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome

Rock, Nathalie;Demaret, T;Stephenne, Xavier;Scheers, Isabelle;Sokal, Etienne;et.al.
(2019) 52nd Annual Meeting of the European Society for Paediatric Gastroenterology Hepatology and Nutrition, ESPGHAN 2019 — Location: United Kingdom, Glasgow (5.June.2019)

Files

Embase7.pdf
  • Open Access
  • Adobe PDF
  • 233.65 KB
Download

Details

Authors
Show more
Abstract
Objectives and Study: Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille syndrome (AS), of which embryotoxon, pseudo-papilledema (PPO), and pigmentary retinopathy are the most common. Papilledema (PO), with or without intracranial hypertension (ICHT)/pseudotumor cerebri syndrome (PTCS), are rarely described. We here report 9 cases of bilateral PO in an AS cohort, 5 of whom were diagnosed with PTCS that occurred after liver transplantation. Methods: We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n = 48) and/or genetically (n = 37) proven AS, who were followed in 2 referral hospitals (UCL St Luc Brussels, n = 75; HUG Geneva, n = 10). Patients who received liver transplantation (LT) (n = 40) were compared with pediatric patients (n = 40) with LT for indications other than AS. Results: Sixty-nine patients fulfilled the inclusion criteria; the PO incidence in this cohort was 13% (9/69, 13%). Forty of these patients (40/69, 58%) underwent LT, of whom 2 developed true PO before LT and 6 developed PO after LT (6/40, 15%). One non-LT child (1/28, 3%) had PO, but had a normal neurological examination and rapid resolution. PO resolved spontaneously or remained stable without complications in 4 patients (2 with pre-transplant onset) (4/69, 6%). The remaining 5 patients had a normal neurological examination and cerebral magnetic resonance imaging findings (5/69, 7%). Probable PTCS was diagnosed in 1 patient and definite PCTS was diagnosed in 4 patients. PTCS was treated with steroids alone in 1 patient, and in combination with acetazolamide in 2 patients. In 2 of these 3 patients, ventriculo-peritoneal derivation was ultimately required for severe progressive visual loss. PPO was present in 10 other (10/69, 10%). One patient in the non-AS cohort had PO, yielding an incidence of 2.5% (1/40). Conclusions: True PTCS may be underdiagnosed in AS, but should be considered as a feature of this syndrome. Our findings supports the necessity of close follow-up of ophthalmologic complications before and/or after LT, because of the risk of severe and irreversible loss of vision.
Affiliations

Citations

  • APA
  • Chicago
  • FWB

Rock, N., Demaret, T., Stephenne, X., Scheers, I., Smets, F., McLin, V., Boschi, A., & Sokal, E. (2019). Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition, 68(1), 1-1243. https://doi.org/10.1097/mpg.0000000000002403 (Original work published 2019)