#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Mitochondrial Cardiomyopathy - Case Report


Authors: I. Šteiner;  J. Zeman;  J. Špaček;  H. Hansíková;  L. Wenchich
Published in: Čes.-slov. Patol., , 2002, No. 1, p. 41-45
Category:

Overview

A male infant developed progressive neuromuscular disease, hypertrophic cardiomyopathy andbrain atrophy since the birth. Increased level of lactate with increased lactate/pyruvate ratiosuggested a disturbance in the mitochondrial energy metabolism. The activities of respiratorychain complexes III, IV and II + III, of pyruvate dehydrogenase complex and of citrate synthase inisolated muscle mitochondria were low in comparison with controls, with parallel decrease in thecontent of protein amount of respiratory chain complexes III and IV. No large scale deletions ofmitochondrial DNA (mtDNA) and mtDNA point mutations A3243G, A8344G or T8993G indicatingsyndromes MELAS, MERRF or NARP were detected. The boy died at the age of 7 weeks. Theautopsy revealed typical changes of mitochondrial cardiomyopathy-marked myocardial hypertrophy with muscle pallor, histological finding of diffuse fine granularity of the cytoplasm in theperinuclear regions, and ultrastructural findings of mitochondrial hyperplasia, enlargement (megamitochondria) and abnormal shape.

Key words:
mitochondrial metabolism - mitochondrial cardiomyopathy - congenital diseases

Full text is not available online.
If interested in a scan of this journal, contact NTO ČLS JEP.

Labels
Anatomical pathology Forensic medical examiner Toxicology
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#