Barth syndrome X-linked cardiomyopathy with neutropenia
DOI:
https://doi.org/10.13112/pc.735Ključne riječi:
BARTH SYNDROME, CARDIOMYOPATHIES, NEUTROPENIA, INFANTSažetak
We report on a child with Barth syndrome. The child had a positive family history (X-linked disease) with characteristic clinical symptoms (severe dilated cardiomyopathy, generalized myopathy with hypotonia) and typical biochemical findings, cyclic neutropenia and elevated urinary level of 3-methylglutaconic acid. Molecular analyses identified mutation in the second exon of TAZ gene, p.Arg94His (c.281G>A) mutation. The child is alive and requires cardiac medications: diuretics, ACE inhibitors, digoxin, β-blockers and anticoagulants.
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