[source]
pmid = PMID:30046498
title = A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
[diagnosis]
disease_id = OMIM:118450
disease_label = Alagille syndrome 1
[text]
The proband is a 2-year and 7-month-old Mexican mestizo male (Figure 1(a), individual III.2).
He was referred at 5 months of age due to cholestatic syndrome characterized by jaundice and pale stools,
which began as of the third week of life. He is the only child of a young, apparently healthy, and unrelated couple.
The pregnancy lasted 39 weeks and was complicated by maternal cholelithiasis at the fourth month.
Antibiotics were indicated for repetitive urinary infections as of the fifth month.
Delivery was carried out by cesarean section due to fetal distress.
The newborn’s weight was 2200 g (P<5), height was 48 cm (P<5), and Apgar score was 8/9.

The cognitive development of the patient is normal. At nine months of age, his weight was 6 kg (P<5),
height was 64 cm (P<5), and head circumference was 44.5 cm (P25-50). He manifested generalized jaundice,
dry skin, and an anterior fontanelle that had not yet closed. He had sparse eyebrows, a broad forehead,
deep-set eyes, a triangular face, prominent ears, a heart murmur, hepatomegaly, and hypotrophic limbs (Figures 1(b) and 1(c)).
His liver function tests were abnormal (Figure 1(d)) and an abdominal ultrasound analysis demonstrated
generalized thickening of the biliary tract. The X-ray analysis showed a butterfly-like image in several dorsal
vertebrae (Figure 1(e)). Right and left pulmonary hypoplasia were diagnosed by echocardiogram analysis.
A magnetic resonance image analysis at the age of 1 year and 2 months displayed
widening of the subarachnoid space and bilateral subarachnoid cysts in the temporal fossa.
The optic nerve in both eyes was normal. At 2 years and 2 months of age, he developed xanthomata
in both elbows and in his knuckles, and at 2 years and 4 months of age, posterior embryotoxon was diagnosed.
A hepatic biopsy detected intracytoplasmic cholestasis and the absence of interlobular conducts.