Magalie Barth

Introduction The phosphopantothenoylcysteine synthetase (PPCS) deficiency is a rare genetic autosomal disorder responsible of a defect in Coenzyme A (CoA) synthesis from vitamin B5 (pantothenate).1-3 Only few human cases have already been described and none severe form has been successfully treated. We report the case of an infant with an end-stage heart failure who spectacularly improved with treatment by pantethine.

Lydie Burglen Developmental Brain Disorders Laboratory, INSERM UMR 1163, Paris, France Competing interests The authors declare that no competing interests exist. Leila Qebibo Département de Génétique, Hôpitaux Universitaires Paris-Ouest, Paris, France Competing interests The authors declare that no competing interests exist. Magalie Barth Department of Genetics, Centre Hospitalier Universitaire d'Angers, Angers, France Competing interests The authors declare that no competing interests exist.

Hemolytic anemia (HA) of the newborn should be considered in cases of rapidly developing, severe, or persistent hyperbilirubinemia. Several causes of corpuscular hemolysis have been described, among which red blood cell enzyme defects are of particular concern. We report a rare case of red blood cell enzyme defect in a male infant, who presented during his first months of life with recurrent and isolated neonatal hemolysis. All main causes were ruled out.