Perinatal Onset Mevalonate Kinase Deficiency
Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Perinatal Onset Mevalonate Kinase Deficiency. Pediatric And Developmental Pathology 2011, 14: 301-306. PMID: 21425920, DOI: 10.2350/11-02-0985-oa.1.Peer-Reviewed Original ResearchConceptsMevalonate kinase deficiencyPeriodic fever syndromeNeonatal periodKinase deficiencyFever syndromeDysmorphic featuresCentral nervous system abnormalitiesIntrauterine viral infectionCholestatic liver diseaseIntrauterine growth restrictionImmediate neonatal periodNervous system abnormalitiesSevere multisystem disorderSepsis syndromeRenal failureCerebral ventriculomegalyLiver diseasePersistent diarrheaClinical findingsPoor prognosisAutopsy findingsGrowth restrictionRare conditionExtramedullary erythropoiesisPerinatal period