ArticleWorld journal of clinical pediatrics2026
Recurrent acute liver failure in infancy - a novel
Article in World journal of clinical pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundRecurrent acute liver failure (ALF) in children is rare and diagnostically challenging. Despite rigorous investigations, a significant proportion of patients remain without a definitive diagnosis. Recently across the literature, biallelic pathogenic variants in the CASE SUMMARY: We report a 19-month-old girl of Middle Eastern ethnicity, presenting with recurrent episodes of febrile illness, ALF, and low-GGT cholestasis initially misattributed to viral hepatitis. Clinical evaluation revealed subtle neurological abnormalities, including tremors and fine motor delay. The highlight of her presentation was pancytopenia, which expanded the known phenotypic spectrum. Extensive metabolic, infectious, and autoimmune investigations were inconclusive. Whole exome sequencing identified a homozygous likely pathogenic
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