A Rare Cause of Neonatal Liver Failure

REPORTsuggestive of infiltrative disorder.For ascertaining the etiology of liver failure, bone marrow aspiration and biopsy were done, which showed lipid-laden foamy macrophages suggestive of Niemann-Pick disease (Figs 2 to 4).Clinical exome sequencing was performed after parental consent, which revealed homozygous single base pair duplication in exon 4 of Niemann-Pick disease type C1 (NPC1) gene (chr18:g.23568853_23568854insT;Depth:86x) [pathogenic] that resulted in a frameshift and premature truncation of the protein 25 amino acids downstream to codon 145 (p.Gln145ThrfsTer25; ENST00000269228.10),thus confirming NPC. 1 The baby succumbed to progressive liver failure after 12 days.