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J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef.

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

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  • 1AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.


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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