Zeitschrift für Neonatalbiologie

Abstrakt

Mevalonic aciduria as a differential diagnosis of Blueberry Muffin Baby

Rafaela Wagner, Camila Vieira Bellettini, Márcia Bandeira, Eduardo Maranhão Gubert and Mara Lúcia Schmitz Ferreira Santos

Mevalonate kinase (MK) deficiency is an autosomal recessive inflammatory disorder caused by a mutation in the gene encoding MK, an essential enzyme in the biosynthesis of cholesterol and isoprenoids. The disease has a broad clinical spectrum depending on the residual enzyme activity, the most severe form is known as mevalonic aciduria (MA). The aim of this article is to report a clinical case of severe MA that initially manifested with a skin rash called blueberry muffin, which is most commonly associated with congenital infections or neonatal hematopoietic diseases. We report the case of a three-month-old boy from consanguineous parents who was referred to our department for evaluation of malnutrition, vomiting, fever, jaundice, and hepatosplenomegaly. At birth, he presented with a purplish rash suggestive of blueberry muffin baby syndrome. A thorough investigation revealed increased urinary excretion of mevalonic acid and a single homozygosity mutation in exon 10 of the MK gene, confirming the diagnosis of MA. Our clinical case represents the first report linking blueberry muffin rash and MA.