Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever
© Heshin-Bekenstein and Hashkes. 2015
Received: 14 October 2015
Accepted: 4 November 2015
Published: 10 November 2015
Familial 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.
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.
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.
Familial Mediterranean Fever (FMF), the most common monogenic autoinflammatory syndrome, is characterized by recurrent episodes of fever and serosal inflammation, including abdominal pain and vomiting. Intestinal malrotation which occurs as a result of an arrest of normal rotation of the embryonic gut, has a varied clinical presentation from infancy through adolescence and adulthood [1, 2]. 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, ultimately diagnosed with intestinal malrotation.
Discussion and conclusion
We present a patient with intestinal malrotation who was initially diagnosed with FMF and treated for 2 years with an adequate dose of colchicine with no response. Fortunately, he did not develop bowel damage after years of recurrent attacks of midgut volvulus.
Clinical diagnostic criteria for familial Mediterranean fever (FMF)
Tel-Hashomer Criteria (adapted from reference #3: Livneh A, et al. Arthritis Rheum 1997;40:1879–1885)
Typical attacks (≥3 of the same type, rectal temp ≥38 °C, attacks lasting 12 h to 3 days)
2.Pleuritis (unilateral) or pericarditis
3.Monoarthritis (hip, knee, ankle)
1. Incomplete attacks (typical attacks including one of the following sites: abdomen, chest or joint with 1 or 2 of the following exceptions: 1) Temperature < 38 °C, 2) attacks lasting 6–12 h or 3–7 days, 3) no signs of peritonitis during abdominal attacks, 4) localized abdominal pain, 5) arthritis in joints other than hip, knee or ankle)
2. Exertional leg pain
3. Favorable response to colchicine
1. Family history of FMF
2. Appropriate ethnic origin
3. Age <20 year at disease onset
4–7 are related to features of attacks:
4. Severe, requiring bed rest
5. Spontaneous remission
6. Symptom-free interval
7. Transient inflammatory response with one or more abnormal test result(s) for white blood cell count, erythrocyte sedimentation rate, serum amyloid A, and /or fibrinogen
8. Episodic proteinuria/hematuria
9. Unproductive laparotomy or removal of “white” appendix
10. Consanguinity of parents
An FMF diagnosis requires ≥1 major criteria, or ≥2 minor criteria, or 1 minor criteria plus ≥5 supportive criteria, or 1 minor criteria plus ≥4 of the first 5 supportive criteria.
1.Recurrent febrile attacks accompanied by peritonitis, synovitis or pleuritis.
2.Amyloidosis of the AA-type without predisposing disease.
3.Favorable response to continuous colchicine treatment.
4. Recurrent febrile attacks
5. Erysipelas-like erythema
6. FMF in a first degree relative
Definitive diagnosis: 2 major or 1 major and 2 minor.
Probable diagnosis: 1 major and 1 minor
Yalçinkaya Pediatric Criteria (adapted from reference #4: Yalçinkaya F, et al. Rheumatology (Oxford, England) 2009;48:395–8)
Axillary temperature of >38 °C, 6–72 h of duration, ≥3 attacks
6–72 h of duration, ≥3 attacks
6–72 h of duration, ≥3 attacks
6–72 h of duration, ≥3 attacks, oligoarthritis
Family history of FMF
Neonatal onset of FMF is uncommon [5–7]. About 31 % percent of patients with FMF present by age 2 years (mean 1.1 years) , 80 % by 10 years and 90 % by 20 years, but only about 5 % by 2 months of age. The most common presentation in the infants is just “fussiness”. In almost all others fever is part of the presentation [7, 8], thus isolated vomiting in patients under 1 year of age is very uncommon.
Bilious vomiting is not characteristic in FMF.
The lack of fever and other symptoms characteristic of FMF. These would be expected in a patient with severe FMF based on the frequency of attacks, age of onset and lack of response to colchicine [6, 9].
Normal acute phase reactants during attacks.
Clinical significance of the common mutations/variations found in the MEFV gene
Mutations associated with classic familial Mediterranean fever (FMF)
Mutations associated both with classic and atypical FMF
Mutations usually associated with atypical FMF
P369S/R408Q (often in cis)
Varients considered polymorphisms
Differential diagnosis of recurrent vomiting (often with abdominal pain) other than familial Mediterranean fever (FMF) in the pediatric population, by age
Anatomic obstruction a
>Anatomic Obstruction a
Dietary protein intolerance
Acute intermittent porphyriab
Malrotation is an incomplete rotation of the intestine during fetal development. The mesentery, including the superior mesenteric artery, is tethered by a narrow stalk, which can twist around itself, and produce life threatening midgut volvulus, with an acute presentation of small bowel obstruction. Traditionally, intestinal malrotation is considered primarily a disease of infancy with infrequent occurrence beyond the first year of life. However, recent studies demonstrate that the prevalence of malrotation in older children and adults appears to be higher than previously thought [1, 2]. Upper gastrointestinal series is the gold standard imaging test for diagnosis. Surgical intervention is recommended regardless of age, and presentation of volvulus requires an emergency procedure.
In summary, alterative diagnoses to FMF should be considered in cases of atypical attacks as in our patient, even if fulfilling diagnostic criteria and supported partially by a heterozygous mutation in the MEFV gene. In some cases, as we described, the correct diagnosis may represent a surgical or medical emergency requiring prompt treatment.
Written informed consent was obtained from the patient’s parents for publication of this Case Report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
We would like to thank Dr. Ruthi Cytter who helped in preparing the figure.
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