학술논문
Alagille syndrome: clinical and ocular pathognomonic features.
Document Type
Academic Journal
Author
El-Koofy NM; Department of Pediatrics, Cairo University, Cairo, Egypt. elkoufynehal@yahoo.com; El-Mahdy R; Fahmy ME; El-Hennawy A; Farag MY; El-Karaksy HM
Source
Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9110772 Publication Model: Print Cited Medium: Internet ISSN: 1724-6016 (Electronic) Linking ISSN: 11206721 NLM ISO Abbreviation: Eur J Ophthalmol Subsets: MEDLINE
Subject
Language
English
Abstract
Purpose: This study was carried out to determine the frequency of clinical diagnostic criteria in patients with Alagille syndrome (AGS) in comparison to a group of children with cholestasis and histologically proven neonatal hepatitis (NH). The type and frequency of ocular manifestations are highlighted.
Methods: According to histologic findings on liver biopsy, the 32 patients included in the study were classified into 2 groups: group 1 had paucity of interlobular bile ducts (PILBD) (n=13) and at least 3 of 5 characteristics of AGS and group 2 had NH on liver biopsy (n=19).
Results: The mean age of patients with AGS was higher than in group 2 (3.9 vs 1.6 years) (p<0.05). Pruritus was a significant symptom in the AGS group (p<0.05). Characteristic facies was detected in 61.5% of the AGS group. None of our patients with AGS had vertebral anomalies. Although cardiac murmurs were heard in 5 patients with AGS, cardiac anomalies were detected in only 3 by echocardiography: pulmonary stenosis in 2 patients and patent foramen ovale in 1. Posterior embryotoxon (PE) was detected in 69.2% of patients with AGS as compared to 10.5% of the NH group. Optic nerve drusen was detected in 91% of patients with AGS as compared to 5.3% of patients with NH.
Conclusions: Optic nerve drusen was the most common finding in AGS, followed by PE and facial features. Ocular ultrasound needs to be performed in all cholestatic infants with PILBD.
Methods: According to histologic findings on liver biopsy, the 32 patients included in the study were classified into 2 groups: group 1 had paucity of interlobular bile ducts (PILBD) (n=13) and at least 3 of 5 characteristics of AGS and group 2 had NH on liver biopsy (n=19).
Results: The mean age of patients with AGS was higher than in group 2 (3.9 vs 1.6 years) (p<0.05). Pruritus was a significant symptom in the AGS group (p<0.05). Characteristic facies was detected in 61.5% of the AGS group. None of our patients with AGS had vertebral anomalies. Although cardiac murmurs were heard in 5 patients with AGS, cardiac anomalies were detected in only 3 by echocardiography: pulmonary stenosis in 2 patients and patent foramen ovale in 1. Posterior embryotoxon (PE) was detected in 69.2% of patients with AGS as compared to 10.5% of the NH group. Optic nerve drusen was detected in 91% of patients with AGS as compared to 5.3% of patients with NH.
Conclusions: Optic nerve drusen was the most common finding in AGS, followed by PE and facial features. Ocular ultrasound needs to be performed in all cholestatic infants with PILBD.