A preterm infant with neonatal-onset mevalonate kinase deficiency presenting with hydrops fetalis and biliary atresia died at 3.5 months despite anakinra and corticosteroid therapy.
Case Report (n=1)
No
This case highlights a rare neonatal presentation of mevalonate kinase deficiency with non-immune hydrops fetalis and biliary atresia, emphasizing the need for early genetic testing in unexplained systemic inflammation.
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 MVK gene, confirming the diagnosis of MKD. Perinatal-onset MKD is exceptionally rare and often presents with non-specific systemic inflammation that can mimic neonatal sepsis, resulting in delayed diagnosis and significant diagnostic and therapeutic challenges. The infant was treated with supportive care, corticosteroids, and the IL-1 receptor antagonist anakinra, but the clinical course was complicated by progressive multiorgan failure, and she died at 3.5 months of age. This case highlights the diagnostic challenges of neonatal-onset MKD and suggests a possible association between MKD, hydrops fetalis, and biliary atresia that requires further investigation. Early consideration of autoinflammatory disorders and timely genetic testing may facilitate diagnosis and guide management in neonates with unexplained systemic inflammation.
Almomani et al. (Thu,) conducted a case report in Mevalonate Kinase Deficiency (n=1). Anakinra and corticosteroids was evaluated on Clinical response and survival. A preterm infant with neonatal-onset mevalonate kinase deficiency presenting with hydrops fetalis and biliary atresia died at 3.5 months despite anakinra and corticosteroid therapy.