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Barth syndrome – case history


Authors: S. Tárnoková 1;  C. Šebová 1;  K. Brennerová 2;  J. Perečková 1;  P. Kunovský 3;  R. Riedel 4;  M. Ďuranová 5;  V. Bzdúch 2
Authors‘ workplace: Centrum dedičných metabolických porúch Oddelenia laboratórnej medicíny, Národný ústav detských chorôb, Bratislava 1;  Detská klinika LFUK a Národneho ústavu detských chorôb, Bratislava 2;  Oddelenie JIS, Detské kardiocentrum, Národný ústav srdcových a cievnych chorôb, Bratislava 3;  Detská klinika anesteziológie a intenzívnej medicíny, Národný ústav detských chorôb, Bratislava 4;  Laboratórium lekárskej genetiky, Alphamedical s. r. o., Bratislava 5
Published in: Čes-slov Pediat 2018; 73 (6): 384-388.
Category:

Overview

Barth syndrome is a rare mitochondrial disorder linked to chromosome X. It is characterized by a wide range of clinical signs and laboratory findings, most typically heart disease, myopathy, neutropenia, growth failure and 3-methylglutaconic aciduria. It is considered to be a underdiagnosed disease with the risk of sudden death in childhood.

We report the first patient in Slovakia with proven Barth syndrome manifested by cardiac decompensation with the finding of left ventricular noncompaction cardiomyopathy and hepatic dysfunction with severe coagulopathy in the 3rd week of life. Based on the metabolic examination, clinical signs and a positive family history of two boys who died in infancy due to cardiac disorder, the diagnosis of Barth syndrome was genetically confirmed in the 7th week of life.

KEY WORDS

Barth syndrome, left ventricular noncompaction, 3-methylglutaconic aciduria, neutropenia, mitochondrial disorder


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