Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency – a case report

Abstract Background Mevalonate kinase deficiency is an inherited autoinflammatory disorder that can present with a wide clinical spectrum, ranging from mild forms with recurrent episodes of fever, lymphadenopathy, splenomegaly and skin rash to the much rarer severe form, which is characterized by ad...

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Bibliographic Details
Main Authors: Henrike Hoermann, Julia Franzel, Juliane Tautz, Prasad T. Oommen, Elke Lainka, Ertan Mayatepek, Thomas Hoehn
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Maternal Health, Neonatology and Perinatology
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Online Access:https://doi.org/10.1186/s40748-025-00207-w
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