OBJECTIVES:
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.
