Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome.

ABSTRACT:

Background

Barth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria. This variable phenotype is caused by pathogenic hemizygous variants of the TAFAZZIN gene on the X chromosome, which impair metabolism of the mitochondrial phospholipid cardiolipin. Although most patients are usually diagnosed in the first years of life, the extremely variable clinical picture and the wide range of clinical presentations may both delay diagnosis. This is the case reported here of a man affected with severe neutropenia, who was not diagnosed with Barth syndrome until adulthood.

Case presentation

We describe herein a family case, specifically two Caucasian male cousins sharing the same mutati

SUBMITTER: Tovaglieri N 

PROVIDER: S-EPMC10467424 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature