Alagille syndrome: clinical and ocular pathognomonic features.
OBJECTIVE
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.
El-Koofy
Nehal M
NM
Department of Pediatrics, Cairo University, Cairo, Egypt. elkoufynehal@yahoo.com
El-Mahdy
Randa
R
Fahmy
Mona E
ME
El-Hennawy
Ahmed
A
Farag
Mohamed Y
MY
El-Karaksy
Hanaa M
HM
D000293:Adolescent; D016738:Alagille Syndrome / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis*; D005260:Female; D006505:Hepatitis / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008111:Liver Function Tests; D008297:Male; D015594:Optic Disk Drusen / Q000175:diagnosis*