Pearson syndrome in the neonatal period: two case reports and review of the literature.

AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.
Journal of Pediatric Hematology/Oncology (Impact Factor: 0.96). 10/2009; 31(12):947-51. DOI: 10.1097/MPH.0b013e3181bbc4ef
Source: PubMed

ABSTRACT 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.