Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
BackgroundBarth 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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/full |
| _version_ | 1828717628275818496 |
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| author | Nicola Tovaglieri Silvia Russo Emanuele Micaglio Angela Corcelli Simona Lobasso |
| author_facet | Nicola Tovaglieri Silvia Russo Emanuele Micaglio Angela Corcelli Simona Lobasso |
| author_sort | Nicola Tovaglieri |
| collection | DOAJ |
| description | BackgroundBarth 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 presentationWe describe herein a family case, specifically two Caucasian male cousins sharing the same mutation in the TAFAZZIN gene with a wide phenotypic variability: an infant who was early diagnosed with Barth syndrome due to heart failure, and his maternal cousin with milder and extremely different clinical features who has received the same diagnosis only at 33 years of age.ConclusionsOur report supports the underestimation of the prevalence of Barth syndrome, which should be always considered in the differential diagnosis of male patients with recurrent neutropenia with or without signs and symptoms of cardiomyopathy. |
| first_indexed | 2024-03-12T14:30:10Z |
| format | Article |
| id | doaj.art-3bdd3fe150f840d8b8f215eb54c7b32c |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-12T14:30:10Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-3bdd3fe150f840d8b8f215eb54c7b32c2023-08-17T13:09:26ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-08-011110.3389/fped.2023.12507721250772Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndromeNicola Tovaglieri0Silvia Russo1Emanuele Micaglio2Angela Corcelli3Simona Lobasso4Department of Pediatrics, Niguarda Hospital, Milan, ItalyDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, ItalyDepartment of Arrhythmology and Clinical Electrophysiology, Institute of Molecular and Translational Cardiology (IMTC), IRCCS Policlinic San Donato, Milan, ItalyDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, ItalyDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, ItalyBackgroundBarth 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 presentationWe describe herein a family case, specifically two Caucasian male cousins sharing the same mutation in the TAFAZZIN gene with a wide phenotypic variability: an infant who was early diagnosed with Barth syndrome due to heart failure, and his maternal cousin with milder and extremely different clinical features who has received the same diagnosis only at 33 years of age.ConclusionsOur report supports the underestimation of the prevalence of Barth syndrome, which should be always considered in the differential diagnosis of male patients with recurrent neutropenia with or without signs and symptoms of cardiomyopathy.https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/fullrare X-linked diseaseTAFAZZINcardiolipin remodelingcardiomyopathyneutropenia |
| spellingShingle | Nicola Tovaglieri Silvia Russo Emanuele Micaglio Angela Corcelli Simona Lobasso Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome Frontiers in Pediatrics rare X-linked disease TAFAZZIN cardiolipin remodeling cardiomyopathy neutropenia |
| title | Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome |
| title_full | Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome |
| title_fullStr | Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome |
| title_full_unstemmed | Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome |
| title_short | Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome |
| title_sort | case report variability in clinical features as a potential pitfall for the diagnosis of barth syndrome |
| topic | rare X-linked disease TAFAZZIN cardiolipin remodeling cardiomyopathy neutropenia |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1250772/full |
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