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

Authors
  • Manea, Elena Maria
  • Leverger, Guy
  • Bellmann, Francoise
  • Stanescu, Popp Alina
  • Mircea, Adam
  • Lèbre, Anne-Sophie
  • Rötig, Agnes
  • Munnich, Arnold
Type
Published Article
Journal
Journal of Pediatric Hematology/Oncology
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Dec 01, 2009
Volume
31
Issue
12
Pages
947–951
Identifiers
DOI: 10.1097/MPH.0b013e3181bbc4ef
PMID: 19881395
Source
Medline
License
Unknown

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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