The authors describe two cases of fatal disease with the picture of acute haemoblastosis in male siblings aged 6 and 18 months. By combined retrospective evaluation of the two cases the authors reach the conclusion that it is the first case of an X chromosome-linked lymphoproliferative syndrome (XLP) described in Czechoslovakia. The authors discuss laboratory and clinical findings (dynamic of specific antibodies against EBV, histopathological finding, clinical evaluation, hypergammaglobulinaemia IgM, paraprotein IgM, genetic examination) and evaluate the disease as the proliferative form of XLP in the clinical variant of fatal infectious mononucleosis.
View Article and Find Full Text PDFA six-month-old boy with partial trisomia 1q25-1q32. In the phenotype psychomotor retardation, progeric facial features and general dystrophy dominated. He failed to thrive partly because of milk intolerance due to hypolactasia.
View Article and Find Full Text PDFThe authors report a case involving a five-month old infant with protracted fever, lymphadenitis, exanthema, diarrhoea and sudden death. At post mortem, serological proof was discovered of a significant increase in antibodies against ornithosis. Autopsy revealed signs indicative of ornithosis and, simultaneously, of changes in the sense of multisystem vasculitis, predominantly in the region of the coronary bed as characteristic of Kawasaki's syndrome.
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