Cardiomyopathy in a child with neutropenia and motor delay

Curr Opin Pediatr. 2008 Oct;20(5):605-7. doi: 10.1097/MOP.0b013e32830a990a.

Abstract

A 17-month boy with history of neutropenia and gross motor regression was found to have cardiomyopathy upon admission. He was diagnosed with Barth syndrome: dilated cardiomyopathy, neutropenia, skeletal myopathy, decreased stature, and 3-methylglutaconic aciduria, confirmed by tafazzin gene deletion. This diagnosis should be considered in boys with unexplained neutropenia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Ataxia / diagnosis
  • Ataxia / genetics
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics
  • Chromosomes, Human, X*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Follow-Up Studies
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Predisposition to Disease
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Male
  • Musculoskeletal Diseases / diagnosis
  • Musculoskeletal Diseases / genetics
  • Neutropenia / diagnosis
  • Neutropenia / genetics
  • Pedigree
  • Syndrome