| Title | Pearson Syndrome in the Neonatal Period: Two Case Reports and Review of the Literature. | | Author(s) | Manea EM, Leverger G, Bellmann F, Stanescu PA, Mircea A, Lèbre AS, Rötig A, Munnich A | | Institution | *AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie; double daggerAP-HP, Hopital Necker - Enfants-Malades, Department of Medical Genetics, Paris, France; and daggerAlfred Rusescu Institute, Department of Pediatrics, Bucarest, Romania, Paris, France. | | Source | J Pediatr Hematol Oncol 2009 Oct 29. | | 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. | | Language | ENG | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 19881395 |
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