Annals of Pediatric Gastroenterology and Hepatology ISPGHAN

Current Issue

Volume 6, Number 1, January-March 2024

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Message from Editorial Board

Moinak Sen Sarma

Message from Editorial Board

[Year:2024] [Month:January-March] [Volume:6] [Number:1] [Pages:1] [Pages No:vi - vi]

DOI: 10.5005/apgh-6-1-vi | Open Access |

CASE REPORT

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

A Rare Cause of Neonatal Liver Failure

[Year:2024] [Month:January-March] [Volume:6] [Number:1] [Pages:2] [Pages No:1 - 2]

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

DOI: 10.5005/jp-journals-11009-0151 | Open Access | How to cite |

Abstract

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.