[The interesting case from the pediatric polyclinic]

Area of Science:

• Genetics
• Pediatrics
• Immunology

Background:

• Periodic fever syndromes are a group of autoinflammatory disorders characterized by recurrent episodes of fever and inflammation.
• Familial Mediterranean Fever (FMF) is the most common periodic fever syndrome, prevalent in Mediterranean populations.
• Accurate diagnosis is crucial for effective management and to prevent long-term complications.

Observation:

• An eleven-year-old girl from Turkey presented with symptoms suggestive of a periodic fever syndrome.
• Clinical suspicion was confirmed by molecular analysis identifying a mutation in the MEFV gene.

Findings:

• The patient was diagnosed with Familial Mediterranean Fever (FMF).
• The MEFV gene mutation identified is known to cause FMF, which encodes the pyrin protein.
• This case underscores the genetic basis of FMF.

Implications:

• Early diagnosis of FMF through genetic testing in children is essential for timely intervention.
• Understanding the genetic underpinnings of periodic fever syndromes aids in differential diagnosis in pediatric cases.
• This case contributes to the understanding of FMF prevalence and genetic diagnosis in diverse populations.