DR. SUENERA,DR. NAVINUMAPATHY,DR.DEVANAND GULAB CHAUDHARY,DR.PRADEEP S,DR. NARAYANA REDDY
DOI: https://doi.org/We report a case of a 6-year-old girl with a novel homozygous SCYL1 frameshift mutation presenting with acute on chronic liver disease, coagulopathy, and features suggestive of progressive familial intrahepatic cholestasis (PFIC). Her presentation was complicated by fever, cholestatic jaundice, and bleeding, requiring PICU management. Genetic analysis confirmed a likely pathogenic SCYL1 variant and a homozygous LPAR6 mutation explaining associated hair abnormalities. This case highlights the evolving spectrum of SCAR21 and reinforces the need for genetic testing in pediatric liver failure.
