1.
J Pediatr Hematol Oncol
; 31(12): 947-51, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19881395
RESUMO
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.