Pearson syndrome in the neonatal period: two case reports and review of the literature
| Autor: | Adam Mircea, Anne-Sophie Lebre, Francoise Bellmann, Elena Maria Manea, Agnès Rötig, Guy Leverger, Popp Alina Stanescu, Arnold Munnich |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Mitochondrial Diseases Period (gene) Mitochondrial DNA deletions Physiology macromolecular substances Disease Neonatal onset Oxidative phosphorylation DNA Mitochondrial Oxidative Phosphorylation Medicine Humans Anemia Macrocytic Pearson syndrome business.industry Infant Newborn Anemia Aplastic Hematology Syndrome medicine.disease Mitochondrial cytopathy Thrombocytopenia Oncology Child Preschool Pediatrics Perinatology and Child Health business Gene Deletion Agranulocytosis |
| Zdroj: | Journal of pediatric hematology/oncology. 31(12) |
| ISSN: | 1536-3678 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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