Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors.

A 13-year-old Greek girl with pyruvate kinase deficiency and moya moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene. She presented with neonatal onset of anemia, hemolytic and aplastic crises, especially during infections, stroke, and also progressive motor and mental deterioration.

Unsuspected extralymphocutaneous dissemination in febrile cat scratch disease.

Cat scratch disease (CSD) commonly manifests as regional self-limited lymphadenitis. However, dissemination of the infection to distant multiple sites may occur even in immunocompetent patients. We report a series of 11 children with fever and extralymphocutaneous manifestations of CSD, in order to highlight potential multiorgan involvement in patients with febrile CSD.

Polymorphonuclear elastase as a diagnostic marker of acute pyelonephritis in children.

Objective: Experimental evidence suggests that neutrophils and their metabolites play an important role in the pathogenesis of pyelonephritis. The aim of this study was to investigate the diagnostic value of polymorphonuclear elastase-a(1)-antitrypsin complex (E-a(1)-Pi) for the detection of acute pyelonephritis in children.

Methods: Eighty-three patients, 29 boys and 54 girls, 25 days to 14 years of age, with first-time symptomatic urinary tract infection were prospectively studied.