title: Different presentations of mevalonate kinase deficiency: a case series.
abstract: OBJECTIVE
  We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition.
  
  
  METHODS
  We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series.
  
  
  RESULTS
  We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised.
  
  
  CONCLUSIONS
  We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: De Pieri
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo; and Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Taddio
authors.affiliation: Operative Unit of Rheumatology, Department of Paediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Insalaco
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Egidio
authors.initials: E
authors.lastname: Barbi
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Loredana
authors.initials: L
authors.lastname: Lepore
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo; and Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Tommasini
mesh_terms: D000367:Age Factors; D001424:Bacterial Infections / Q000175:diagnosis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000175:diagnosis / Q000209:etiology; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D011237:Predictive Value of Tests; D012008:Recurrence; D012307:Risk Factors; D018805:Sepsis / Q000175:diagnosis / Q000209:etiology; D014657:Vasculitis / Q000175:diagnosis / Q000209:etiology; D055815:Young Adult