[Complex I (NADH coenzyme-Q-reductase) deficiency, MELAS syndrome and hypertrophic cardiomyopathy]

Neurologia. 1991 May;6(5):185-7.
[Article in Spanish]

Abstract

A 24-year-old male had a deficiency of the complex I (NADH coenzyme-Q-reductase) of the mitochondrial respiratory chain, which clinically presented as a mitochondrial encephalomyopathy, with lactic acidosis and stroke-like episodes (MELAS syndrome). The encephalopathic episodes were preceded by migraine and were characterized by focal deficit signs, motor partial seizures and hypodense areas in the CT scan. An echocardiographic diagnosis of hypertrophic cardiomyopathy without intracavitary thrombi was made. It is suggested that hypertrophic cardiomyopathy is caused by the mitochondrial abnormalities that have been reported in the myocardium, and that migraine and cerebral infarctions are associated with abnormalities in the mitochondria from the endothelium and smooth muscle fibres of the cerebral small arteries and arterioles.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Lactic / enzymology
  • Adult
  • Brain Diseases / enzymology*
  • Cardiomyopathy, Hypertrophic / enzymology*
  • Cerebrovascular Disorders / etiology
  • Deficiency Diseases / complications
  • Deficiency Diseases / diagnosis
  • Humans
  • Male
  • Mitochondria, Muscle / enzymology
  • Muscular Diseases / enzymology*
  • Muscular Diseases / pathology
  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases / deficiency*
  • Syndrome

Substances

  • NAD(P)H Dehydrogenase (Quinone)
  • Quinone Reductases