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Published on: September 20, 2018
Familial Mediterranean Fever with Neonatal Onset: Case Report
Kübra Arslan1, Serdar Ümit Sarici1, Gonca Kolukisa1
1Department of Pediatrics, Ufuk University Faculty of Medicine, Ankara, Turkey.
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent fever and attacks of abdominal pain, chest pain, and joint pain. Attacks of recurrent fever and serositis are encountered clinically. Attacks may present either with only one symptom or many simultaneous symptoms. Although most of the patients are diagnosed clinically above the age of 2, those cases who are diagnosed before 2 years of age and with clinical course of isolated fever are believed to have a more serious course and tend to develop amyloidosis. In this article, a case who was admitted first on the 22nd day of life and later diagnosed to have FMF with recurrent attacks of isolated fever and no other focus is presented. We emphasize that FMF may present as early as in the first month of life, and it should be considered in cases presenting with fever of unknown origin and misdiagnosed to have late neonatal sepsis or occult bacteremia at this age group.
Insights
Familial Mediterranean fever (FMF) can manifest in newborns as isolated fever. Early diagnosis is crucial, as FMF in infants may indicate a severe course and risk of amyloidosis.
Area of Science:
- Pediatrics
- Genetics
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease.
- Characterized by recurrent fever, serositis (abdominal, chest, joint pain).
- Typically diagnosed after age 2, but early-onset cases exist.
Observation:
- Presents a case of FMF diagnosed in the first month of life (22 days old).
- The infant exhibited recurrent isolated fever without other symptoms.
- This presentation mimicked neonatal sepsis or occult bacteremia.
Findings:
- FMF can present with isolated fever in the neonatal period.
- Early-onset FMF (before age 2) is associated with a more severe disease course.
- Infants with early-onset FMF are at higher risk for developing amyloidosis.
Implications:
- Highlights the importance of considering FMF in febrile infants, even with isolated fever.
- Suggests FMF should be in the differential diagnosis for fever of unknown origin in neonates.
- Early identification and management of neonatal FMF can potentially prevent long-term complications like amyloidosis.
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