Diagnosis of occult muscular dystrophy: importance of the "chance" finding of elevated serum aminotransferase activities

J Pediatr. 1993 Feb;122(2):254-6. doi: 10.1016/s0022-3476(06)80126-5.

Abstract

We report our experience with four children, including one girl, in whom the eventual diagnosis of muscular dystrophy was made because of persistent, unexplained elevated serum aminotransferase values. Measurement of serum creatine kinase activity and careful physical examination are the most useful and cost-effective means of correctly identifying these patients.

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / blood*
  • Aspartate Aminotransferases / blood*
  • Child
  • Child, Preschool
  • Creatine Kinase / blood
  • Dystrophin / analysis
  • Female
  • Fructose-Bisphosphate Aldolase / blood
  • Humans
  • Infant
  • L-Lactate Dehydrogenase / blood
  • Male
  • Muscles / chemistry
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / enzymology
  • Turner Syndrome / genetics

Substances

  • Dystrophin
  • L-Lactate Dehydrogenase
  • Aspartate Aminotransferases
  • Alanine Transaminase
  • Creatine Kinase
  • Fructose-Bisphosphate Aldolase