FOCAD Gene Defect Resulting in Rapidly Progressing Neonatal Liver Cirrhosis Requiring Transplant.

Abstract

In children, cirrhosis is rare and most commonly associated with biliary atresia and other metabolic or genetic conditions. We report a rare case of a preterm infant who developed severe liver cirrhosis in the first few months of life, requiring liver transplant at three months of age. She presented with persistent hypoalbuminaemia, peripheral oedema, ascites, metabolic bone disease with fractures, coagulopathies, and anaemia. She subsequently developed multiorgan failure and disseminated intravascular coagulation (DIC). Extensive investigation found FOCAD gene defect, compound heterozygous for c.4435del p.Lys1475Asnfs* and exon 6-7 deletion. In conclusion, we hope to contribute to the awareness and growing understanding of FOCAD deficiency in children. This case highlights the importance of early diagnosis and consideration of screening for FOCAD deficiency in cases where the cause for cirrhosis is unknown. More research will be needed to better elucidate the full spectrum of the condition, as well as to establish potential prognostic markers and therapeutic targets.