Pearson Syndrome in the Neonatal Period

ArticleinJournal of Pediatric Hematology/Oncology 31(12):947-51 · October 2009with26 Reads
Impact Factor: 0.90 · 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.

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