Work

Neonatal Cholestasis with Congenital Portosystemic Shunt and ABCB4 mutation

Year: 2024

Type: article

Abstract: A 15-day-old female presented with jaundice and clay-coloured stools for one week.She was detected to have multiple muscular ventricular septal defects (VSDs) on echocardiography (2D ECHO).Liver biopsy revealed ductopenia.Whole exome sequencing was suggestive of mutation in the ABCB4 (-) gene in exon 4 with variant c.193A>G, progressive familial intrahepatic cholestasis -3 (PFIC 3) of uncertain significance.The child was given fat soluble vitamin supplements, ursedeoxycholic acid (UDCA).Her jaundice resolved at 5.5 months of age.However at 11, 15 and 22 months, ultrasound (USG) with doppler thin right portal vein and an intrahepatic shunt between the right portal vein and inferior vena cava (IVC).Repeat 2D ECHO at 15 months was normal.The patient is currently asymptomatic and on regular follow-up.

Source: Pediatric Oncall

DOI: 10.7199/ped.oncall.2025.68

Authors: Suhani Jain, Ira Shah

Institution: Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals

Language: English

Topic: Pediatric Hepatobiliary Diseases and Treatments

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403699508