Fulltext

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Morel, Anne-Sophie ; Joris, Nadia ; Meuli, Reto ; Jacquemont, Sébastien ; Ballhausen, Diana ; Bonafé, Luisa ; Fattet, Sarah ; Tolsa, Jean-François

In: European Journal of Pediatrics, 2009, vol. 168, no. 3, p. 311-315

Aggiungi alla tua lista
    Titre
    • Early neurological impairment and severe anemia in a newborn with Pearson syndrome
    Auteur
    • Morel, Anne-Sophie. Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland
    • Joris, Nadia. Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland
    • Meuli, Reto. Department of Radiology, University Hospital and University of Lausanne, 1011, Lausanne, Switzerland
    • Jacquemont, Sébastien. Division of Genetics, Department of Gynecology and Obstetrics, University Hospital and University of Lausanne, 1011, Lausanne, Switzerland
    • Ballhausen, Diana. Division of Molecular Pediatrics, Department of Pediatrics, University Hospital and University of Lausanne, 1011, Lausanne, Switzerland
    • Bonafé, Luisa. Division of Molecular Pediatrics, Department of Pediatrics, University Hospital and University of Lausanne, 1011, Lausanne, Switzerland
    • Fattet, Sarah. Division of Onco-Hematology, Department of Pediatrics, University Hospital and University of Lausanne, 1011, Lausanne, Switzerland
    • Tolsa, Jean-François. Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • European Journal of Pediatrics, 2009, vol. 168, no. 3, p. 311-315. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:319438
    Summary
    Background: Pearson marrow-pancreas syndrome (PS) is usually a fatal mitochondrial disease, mostly diagnosed during infancy or postmortem. PS is caused by the deletions or duplications of mitochondrial DNA (mtDNA). The tissue distribution and relative proportions of expressed abnormal mtDNA determine the phenotype and the clinical course. Materials and methods: We describe the case of a term baby boy who was diagnosed with PS early in the neonatal period due to severe aregenerative anemia and persistent lactic acidosis. Results: His neurological examination was abnormal since birth. Brain magnetic resonance imaging (MRI) at term was abnormal, indicating that mitochondrial encephalopathy in PS can be already manifested in the neonatal period. To our knowledge, neonatal encephalopathy in PS has not been previously described. Conclusion: PS is a rare condition diagnosed in the newborn. It should be suspected in the presence of severe anemia and persistent lactic acidosis, and may manifest with early encephalopathy