Researchers from Pakistan presented the case of a girl, aged 8 years who was diagnosed with Alagille syndrome (ALGS) based on the 5 classical clinical criteria for the diagnosis of the disease.

“The involvement of multisystem has made it necessary for all clinicians to be aware of this rare disease as this can help in timely referral of this grave disease to a tertiary care center for multidisciplinary approach involving hepatologists, ophthalmologists and surgeons with expertise in hepatobiliary diseases,” wrote the authors of the study published in the International Journal of Clinical Studies and Medical Case Reports.

The case presented here was that of a baby girl who had jaundice at birth that resolved within a week. However, jaundice recurred when she was 40 days old. She also had clay-colored stools. Jaundice in the neonatal period and pale stools that are the result of cholestasis are one of 5 classic phenotypic features of ALGS.

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The patient also had characteristic facial features associated with ALGS including a triangular face and a broad forehead, a pointed chin, and an elongated nose.

The authors also reported posterior embryotoxon, another one of the 5 classical features of ALGS, and finally, 2-dimensional echocardiography revealed peripheral pulmonary artery stenosis.

The patient, therefore, fulfilled 4 of the 5 major features of ALGS and was managed as such. She was treated with ursodeoxycholic acid, multivitamins, and folic acid, which markedly improved her symptoms. “She took proper treatment and is being followed up for 11 years,” the researchers reported.

ALGS is caused by the disruption of the Notch signaling pathway due to mutations in either the JAG1 (seen in around 90% of cases) or NOTCH2 genes. The disease is thought to affect around 1 in every 100,000 live births.


Ismail H, Soomro GB, Khan RTY, et al. Alagille syndrome – A rare clinical entity in an eight-year-old girl presenting in hepatobiliary clinic in Pakistan. IJCMCR. 2022;19(1):001. doi:10.46998/IJCMCR.2022.19.000452