Objectives: To ascertain the prevalence of newborn encephalopathy in term live births, and also the underlying diagnoses, timing, and outcome at 2 years of surviving infants.
Design: Population based observational study.
Setting: North Pas-de-Calais area of France, January to December 2000.
Unlabelled: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis.
View Article and Find Full Text PDFUnlabelled: Congenital pulmonary lymphangiectasia is a rare cause of respiratory distress in the neonatal period. Cardiac arrest may be its first manifestation.
Case Report: We report the case of a full term newborn who suffered at 30 min of life a sudden cardiac arrest.