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Erschienen in:

01.03.2009 | Original Paper

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

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

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2009

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Abstract

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.

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Titel: Early neurological impairment and severe anemia in a newborn with Pearson syndrome
verfasst von: Anne-Sophie Morel
Nadia Joris
Reto Meuli
Sébastien Jacquemont
Diana Ballhausen
Luisa Bonafé
Sarah Fattet
Jean-François Tolsa
Publikationsdatum: 01.03.2009
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2009
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0756-4

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