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

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Serval ID
serval:BIB_5E94FBE02B39
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Early neurological impairment and severe anemia in a newborn with Pearson syndrome
Journal
European Journal of Pediatrics
Author(s)
Morel A. S., Joris N., Meuli R., Jacquemont S., Ballhausen D., Bonafe L., Fattet S., Tolsa J. F.
ISSN
1432-1076
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
168
Number
3
Pages
311-5
Notes
Morel, Anne-Sophie
Joris, Nadia
Meuli, Reto
Jacquemont, Sebastien
Ballhausen, Diana
Bonafe, Luisa
Fattet, Sarah
Tolsa, Jean-Francois
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.
Pubmed
Web of science
Open Access
Yes
Create date
06/02/2009 11:28
Last modification date
01/10/2019 6:18
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