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1/52. reflex sympathetic dystrophy arising in a patient with familial mediterranean fever.

    A 14-year-old girl with familial mediterranean fever (FMF) had had acute attacks of fever, abdominal pain, and arthritis for 4 years. Her last arthritis attack was protracted, leading to reflex sympathetic dystrophy (RSD) in her right lower extremity. Physical therapy along with sympathetic ganglion block and corticosteroid therapy was used for the treatment. To our knowledge, this is the first reported case of RSD arising in a patient with FMF. Early recognition of RSD in FMF patients is important, and physical therapy should be applied along with medical treatment.
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2/52. Protracted familial mediterranean fever arthritis.

    familial mediterranean fever (FMF) is an inherited disorder characterized by recurrent attacks of fever and abdominal, chest, and articular pain. The articular attack of FMF is typically an acute, self-limited, large joint monoarthritis most often affecting the knee or hip. Rarely, a more protracted arthritis may occur. We describe two unusual cases of long-standing FMF arthritis with excellent response to synovectomy.
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keywords = chest
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3/52. polyarteritis nodosa involving the hepatobiliary system in an eight-year-old girl with a previous diagnosis of familial mediterranean fever.

    polyarteritis nodosa (PAN) is a vasculitis of small- and medium-sized muscular arteries with deposition of immune complex in the vessel wall. Although gastrointestinal involvement is common, the symptomatic involvement of the hepatobiliary system is rare. An eight-year old female patient with a previous diagnosis of familial mediterranean fever (FMF) was hospitalized for right upper quadrant pain and fever. The thickened gall bladder wall by ultrasonography, called for exploration. Histopathological evaluations of the liver biopsy and gall bladder revealed PAN. Corticosteroid therapy was initiated and the patient recovered fully. This case represents one of the rarest forms of PAN in childhood.
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ranking = 0.0003630151327223
keywords = upper
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4/52. familial mediterranean fever.

    familial mediterranean fever (FMF) is an inherited multisystem disease manifested by painful, febrile attacks affecting the chest, abdomen, joints, and skin. No simple studies confirm the presence of FMF, contributing to the difficulty in diagnosis. A 10-year-old boy initially presented with a diffuse rash and complaints of bilateral joint pain of the hips, knees, and ankles and pain of the right shoulder. The child responded to daily naproxen. One year later, he continued to complain of hip, knee, ankle, and bilateral wrist pain. He also reported mild to moderate recurrent abdominal discomfort. omeprazole provided intermittent relief. The patient continued to experience episodes of joint and abdominal pain. Two and a half years after he first presented, FMF was considered. In the second case, a 51-year-old man presented to the emergency department with complaints of fever, cough, and abdominal and joint pain. Fever, joint pain, and swelling decreased during the next few days. The patient was maintained on colchicine, with complete resolution of joint pain complaints during the next few days. colchicine, 1 to 2 mg per day taken continuously during flare and quiescent periods, is the treatment of choice for FMF. colchicine reduced the severity and frequency of attacks and may also delay or prevent secondary amyloidosis.
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ranking = 1.0048090280545
keywords = abdominal pain, chest
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5/52. Near fatal acute colchicine intoxication in a child. A case report.

    An 8-year-old child with familial mediterranean fever exhibited signs of colchicine intoxication while receiving prophylactic doses of the drug. She developed gastrointestinal, central nervous system, cardiovascular and haematological disturbances. Over 2 months she had been drinking high doses of natural grapefruit juice which, combined with long-term colchicine therapy and a viral upper respiratory tract infection, increased her susceptibility to the drug. CONCLUSION: To the best of our knowledge, this is the first time colchicine intoxication in this age group has been described in the English literature.
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6/52. Progressive bouts of acute abdomen: pet the peritoneum.

    The recent discovery of the mutated gene responsible for familial mediterranean fever (FMF) is supposed to facilitate its diagnosis which up till now is a clinical one because there are no specific laboratory tests. The sensitivity of genetic testing is limited because these tests search only for known mutations. In this case report we describe a patient with periodic abdominal pain in whom the diagnosis of FMF was wrongly discarded because of lack of a durable effect of colchicine and negative genetic testing. Diffuse peritoneal inflammation was nicely demonstrated by a FDG-PET (fluoro-deoxy-glucose positron-emission tomography) performed during a typical crisis. We discuss the possible diagnostic pitfalls and conclude that a crisis-PET might upgrade the level of diagnostic certainty in equivocal cases.
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7/52. Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid communication.

    BACKGROUND: The recent identification of genes responsible for syndromes of periodic fever with amyloidosis has opened the way to a molecular diagnosis of hereditary AA amyloidosis. methods: A Belgian woman presented for genetic counseling. Three first-degree relatives had a diagnosis of renal amyloidosis with a history of recurrent fever and inflammatory episodes. medical records and pathological specimens were obtained from all physicians who had been in charge of her three relatives. Immunohistochemical staining was performed on paraffin-embedded material. A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively. RESULTS: The family history was consistent with autosomal-dominant transmission of periodic fever with arthralgias, abdominal pain, and eventual AA amyloidosis involving the kidneys, digestive tract, and thyroid. Recurrent amyloidosis in kidney graft was demonstrated in one patient and was suspected in the other. A novel heterozygous mutation (C55S) in TNFRSF1A was identified in the affected patient available for genetic testing but not in the asymptomatic woman requiring counseling. No mutation was detected in MEFV. CONCLUSIONS: We report a novel mutation (C55S) in TNFRSF1A, resulting in autosomal-dominant periodic fever and AA amyloidosis. This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling.
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8/52. familial mediterranean fever in a Taiwanese patient.

    familial mediterranean fever is a rare disease characterized by cyclic attacks of fever, serositis and strong family background. Here we report a 22-year-old man who suffered from recurrent fever accompanied by chest and abdominal pain for more than 10 years. The attack frequency was about once per 2-3 weeks. Although he consulted many clinics and even received appendectomy at the age of 15, no definite diagnosis was given. During the admission, many laboratory examinations failed to show any abnormality except mild leukocytosis and elevated C-reaction protein. Image studies including chest X ray and abdominal CT scan showed negative result but, interestingly, gallium-67 scan showed a hot spot in right lower chest and right lower abdomen. After prophylaxis with colchicine 1.0 mg per day, he has enjoyed more than 2 years without the above symptoms.
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ranking = 1.0144270841634
keywords = abdominal pain, chest
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9/52. Recurrent urticaria as a rare manifestation of familial mediterranean fever.

    familial mediterranean fever (FMF) is a genetic disorder characterized by acute episodes of fever with some combination of severe abdominal pain, pleurisy, arthritis, and skin rash. The case of a patient with recurrent urticaria referred for study of drug allergy is presented. After allergy had been ruled out, the urticaria was attributed to previously undiagnosed symptoms of an underlying systemic disease: FME. urticaria is the least frequent cutaneous manifestation of this disease, and genetic analysis was required to confirm the diagnosis.
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10/52. Allogeneic bone marrow transplantation: cure for familial mediterranean fever.

    We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.
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keywords = abdominal pain
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