Cardiomyopathy in a child with neutropenia and motor delay.
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.
McCanta
Anthony C
AC
Pediatric Cardiology, The Children's Hospital Denver, Denver, Colorado 80045-7106, USA. mccanta.anthony@tchden.org
Chang
Anthony C
AC
Weiner
Keith
K
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics; D041321:Chromosomes, Human, X; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000235:genetics; D009503:Neutropenia / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D013577:Syndrome