Abstract
BackgroundFamilial Mediterranean fever (FMF) is a disorder characterized by recurrent attacks of fever and serosal inflammation, particularly abdominal pain. Other disease processes, including medical and surgical emergencies, may mimic FMF, especially in atypical cases.Case Presentation We present a case of an adolescent male, referred to us with a diagnosis of colchicine resistant FMF, ultimately diagnosed with intestinal malrotation and recurrent volvulus.Conclusions In atypical presentations of FMF with potential “red flags”, a thorough patient history is extremely important and should result in prompt referral for the appropriate diagnostic tests.
Highlights
Familial Mediterranean fever (FMF) is a disorder characterized by recurrent attacks of fever and serosal inflammation, abdominal pain
We present a case of an adolescent male, referred to us with recurrent vomiting and abdominal pain, initially diagnosed with FMF that was resistant to colchicine, diagnosed with intestinal malrotation
Case presentation A 14 year old male of mixed Sephardic-Ashkenazi Jewish ancestry was referred to our Pediatric Rheumatology Clinic with “colchicine resistant FMF”
Summary
Familial Mediterranean fever (FMF) is a disorder characterized by recurrent attacks of fever and serosal inflammation, abdominal pain. We present a case of an adolescent male, referred to us with recurrent vomiting and abdominal pain, initially diagnosed with FMF that was resistant to colchicine, diagnosed with intestinal malrotation. His father was diagnosed with FMF, after years of recurrent fever, abdominal pain and vomiting, with compound heterozygous mutations on the MEFV gene (M694V/E148Q).
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