Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn
error of metabolism characterized by inflammatory dysregulation and, in most severe
cases, neurodevelopmental delay. The clinical phenotype of each patient depends on
the severity of the underlying enzymatic defect and on environmental factors. Due to its
complex pathogenesis, involving both metabolic and immune functions, the disease
shows different clinical pictures mimicking infectious, inflammatory, rheumatologic and
neurological disorders. In these cases the correct diagnosis may be delayed and the patient
may undergo useless investigation and treatment. In the present work five common
patterns of clinical presentation of the disease that can lead to a late or wrong diagnosis
are identified. Considering MKD as a novel “great mimicker” can foster awareness
of this disorder among paediatricians and physicians in different medical specialties.
Each case will enable to discuss possible diagnostic pitfalls and to propose practical
hints to improve the diagnosis.
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