Paediatria Croatica, Vol. 56 No. 3, 2012.
Case report
BARTH SYNDROME – X-LINKED CARDIOMYOPATHY WITH NEUTROPENIA
Ivan Malčić
; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Marija Vidaković
; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Daniel Dilber
; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Hrvoje Kniewald
; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Dorotea Bartoniček
; Klinički bolnički centar Zagreb, Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Zagreb
Abstract
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.
Keywords
Descriptors: BARTH SYNDROME; CARDIOMYOPATHIES; NEUTROPENIA; INFANT
Hrčak ID:
89718
URI
Publication date:
17.10.2012.
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