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Cardiomyopathy in a child with neutropenia and motor delay
Anthony C McCanta1, Anthony C Chang, Keith Weiner
1Pediatric Cardiology, The Children's Hospital Denver, Denver, Colorado 80045-7106, USA. mccanta.anthony@tchden.org
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.
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