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CASE REPORTS
JOURNAL ARTICLE
REVIEW
Pearson syndrome in the neonatal period: two case reports and review of the literature.
Journal of Pediatric Hematology/oncology 2009 December
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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