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

This case shows that intestinal obstruction with dilated fetal bowel loops can be an initially leading clinical symptom of severe mevalonate kinase deficiency. Diagnostics should be considered at an early stage, especially in the presence of other anomalies such as hydrops fetalis, growth restriction, or microcephaly. Data on the neonatal course of severe mevalonate kinase deficiency are still scarce and further studies are needed, particularly on treatment in neonates and young infants.