ArticleCureus2026
Neonatal Hydrops and Biliary Atresia as an Early Presentation of Mevalonate Kinase Deficiency: A Case Report.
Article in Cureus, 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder with a broad clinical spectrum. Neonatal presentation is uncommon and may mimic severe infection, leading to diagnostic delay. We report a preterm female infant who presented with non-immune hydrops fetalis and persistent systemic inflammation from the first week of life, despite repeated negative blood and CSF cultures and multiple courses of broad-spectrum antibiotics. The infant subsequently developed progressive cholestasis with pale stools, and biliary atresia was confirmed by hepatobiliary imaging and intraoperative cholangiography, followed by portoenterostomy. Extensive metabolic, immunologic, and infectious evaluations were unrevealing. Whole-exome sequencing identified compound heterozygous pathogenic variants in the
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