Annals of Pediatric Gastroenterology and Hepatology ISPGHAN

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VOLUME 6 , ISSUE 1 ( January-March, 2024 ) > List of Articles


A Rare Cause of Neonatal Liver Failure

Snigdha Singh, Aathira Ravindranath, Rajkumar P Wadhwa, Benaganahalli S Sandeep, Kalavathi L Narendra

Keywords : Case report, Liver failure, Liver transplantation, Niemann–Pick type C, Neonate, Storage disorder

Citation Information : Singh S, Ravindranath A, Wadhwa RP, Sandeep BS, Narendra KL. A Rare Cause of Neonatal Liver Failure. Ann Pediatr Gastroenterol Hepatol 2024; 6 (1):1-2.

DOI: 10.5005/jp-journals-11009-0151

License: CC BY-NC 4.0

Published Online: 10-04-2024

Copyright Statement:  Copyright © 2024; The Author(s).


A 1-month-old infant presented with complaints of jaundice and poor oral intake for 14 days. Liver function tests were significantly deranged, and the prothrombin time-international normalized ratio (PT-INR) was high. Ultrasonography showed hepatomegaly with periportal cuffing and massive splenomegaly suggestive of an infiltrative disorder. Bone marrow aspiration and biopsy showed lipid-laden macrophages, which helped in making a diagnosis of Niemann–Pick disease. Whole exome sequencing results further confirmed the diagnosis of Niemann–Pick disease type C (NPC). NPC is a rare cause of neonatal liver failure, and since there is no known treatment for the illness, investigations must be specifically tailored to produce a diagnosis in time, which can aid in the management and prenatal counseling.

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