Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life.
View Article and Find Full Text PDFWe report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to examine the presence of Bordetella pertussis using loop-mediated isothermal amplification (LAMP) based on the insertion sequence IS481.
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