Pearson syndrome in the neonatal period: two case reports and review of the literature.
Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.
Manea
Elena Maria
EM
AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.
Leverger
Guy
G
Bellmann
Francoise
F
Stanescu
Popp Alina
PA
Mircea
Adam
A
Lèbre
Anne-Sophie
AS
Rötig
Agnes
A
Munnich
Arnold
A
D000380:Agranulocytosis / Q000175:diagnosis* / Q000235:genetics; D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000235:genetics; D000748:Anemia, Macrocytic / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D010085:Oxidative Phosphorylation; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics
D004272:DNA, Mitochondrial