Journal of Neonatal Biology

Mara Lúcia Schmitz Ferreira Santos

Publications

• Case Report
  Mevalonic Aciduria as a Differential Diagnosis of Blueberry Muffin Baby
  Author(s): Rafaela Wagner, Camila Vieira Bellettini, Márcia Bandeira, Eduardo Maranhão Gubert and Mara Lúcia Schmitz Ferreira SantosRafaela Wagner, Camila Vieira Bellettini, Márcia Bandeira, Eduardo Maranhão Gubert and Mara Lúcia Schmitz Ferreira Santos
  
  Mevalonate kinase (MK) deficiency is an auto inflammatory autosomal recessive disorder caused by a mutation in the gene encoding MK, an essential enzyme in the biosynthesis of cholesterol and isoprenoids. The disease has a wide clinical spectrum according to enzyme residual 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, with an initial manifestation of a skin rash known as blueberry muffin, most commonly associated with congenital infections or neonatal hematopoietic diseases. We report the case of a three-month boy, born to consanguineous parents, that was referred to our service for assessment of malnutrition, vomiting, fever, jaundice and hepatosplenomegaly. At birth, he presented a purpuric rash suggestive of Blueberry Muffin Baby Syndrome. A thorough investigation revealed increased excretion .. View More»
  DOI: 10.4172/2167-0897.1000225

  Abstract PDF