[Congenital factor X deficiency showing cross-reacting material negative (CRM-)].
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The case of a 52-year-old patient with systemic amylosis diagnosed upon examination of an osteomedullary biopsy specimen is reported. The most prominent clinical manifestation was a major hemorrhagic syndrome which was recognized as being a result of severe factor Stuart deficiency. The new classification of amyloses based on the latest biochemical and immunological findings is recalled. Current physiopathogenic speculations put emphasis on plasmocyte-macrophage cooperation. Lastly, factor Stuart deficiency, which is as classical as it is uncommon, could originate in the particular affinity of amyloid fibers for this factor and in a "mass effect" (quantity of amyloid substance directly exposed to blood flow), explaining why splenectomy is effective in some instances.
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A case of acute nonlymphocytic leukemia (ANLL) and selective acquired FX deficiency at presentation is reported. The deficiency was not corrected by the infusion of fresh frozen plasma, but the patient's plasma had no neutralizing activity in vitro. The cause of the deficiency is unknown.
The article presents the case of an 18-month-old boy with major scald burns complicated by acquired F-X deficiency. On the 15th day of hospitalization, the patient developed sepsis and fever. He also exhibited bruxism, especially during the febrile episodes, which his permanent teeth to luxate and become mobile. Pedodontists decided that all the child's teeth should be extracted to ensure proper development of the jaw with growth. Twelve hours later, he developed a leukemoid reaction, which was attributed to infection with another aerobic organism or development of anaerobic bacteremia after teeth extraction. Twenty-four hours after the extractions, the burn wounds began oozing and there was extensive gingival bleeding and epistaxis. Coagulation parameters were assessed immediately. Disseminated intravascular coagulation was detected initially and was successfully treated with fresh-frozen plasma transfusions, but bleeding from the burn wounds and nasal/oral mucous membranes continued. Further testing revealed the diagnosis of acquired isolated F-X deficiency linked with antiphospholipid antibodies. Treatment with plasmapheresis, steroids, and intravenous immunoglobulin was successful. Hypertrophic scar formation was the only issue during 7 months of follow-up.
Constitutional aplasia of the bone marrow is a general term which designates familial aplastic pancytopenias with recessive autosomal transmission. They are rare and often associated with malformations which are of great diagnostic value. The Fanconi syndrome is a well individualized form in which aplasia of the bone marrow is combined with various malformations which are of great diagnostic value. The Fanconi syndrome is a well individualized form in which aplasia of the bone marrow is combined with various malformations, particularly skeletal, cutaneous and renal. Cytogenic lymphocyte analysis shows an abnormal tendency to chromosomal breakage which is increased after incubation with alkylating agents. Bone marrow transplantation is the only available therapy for these constitutional aplasias.
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