Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef.

Pearson syndrome in the neonatal period: two case reports and review of the literature.

Author information

  • 1AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.

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.

PMID:
19881395
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Lippincott Williams & Wilkins
    Loading ...
    Write to the Help Desk