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