Case Reports
doi: 10.1097/MOP.0b013e32830a990a.
Cardiomyopathy in a child with neutropenia and motor delay
Affiliations
- PMID: 18781126
- DOI: 10.1097/MOP.0b013e32830a990a
Item in Clipboard
Case Reports
Cardiomyopathy in a child with neutropenia and motor delay
Curr Opin Pediatr.
2008 Oct.
Abstract
A 17-month boy with history of neutropenia and gross motor regression was found to have cardiomyopathy upon admission. He was diagnosed with Barth syndrome: dilated cardiomyopathy, neutropenia, skeletal myopathy, decreased stature, and 3-methylglutaconic aciduria, confirmed by tafazzin gene deletion. This diagnosis should be considered in boys with unexplained neutropenia.
Similar articles
-
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.J Med Genet. 2006 May;43(5):385-93. doi: 10.1136/jmg.2005.036657. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055927 Free PMC article.
-
Barth syndrome: clinical observations and genetic linkage studies.Am J Med Genet. 1994 Apr 15;50(3):255-64. doi: 10.1002/ajmg.1320500309. Am J Med Genet. 1994. PMID: 8042670
-
Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.Congenit Heart Dis. 2008 Nov-Dec;3(6):443-8. doi: 10.1111/j.1747-0803.2008.00226.x. Congenit Heart Dis. 2008. PMID: 19037987
-
[Barth syndrome (X linked cardioskeletal myopathy and neutropenia)].Nihon Rinsho. 2002 Apr;60 Suppl 4:389-91. Nihon Rinsho. 2002. PMID: 12013894 Review. Japanese. No abstract available.
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.J Pediatr. 1999 Sep;135(3):273-6. doi: 10.1016/s0022-3476(99)70118-6. J Pediatr. 1999. PMID: 10484787 Review. No abstract available.
Cited by
-
Cardiomyopathy in a male patient with neutropenia and growth delay.Ital J Pediatr. 2014 May 12;40:45. doi: 10.1186/1824-7288-40-45. Ital J Pediatr. 2014. PMID: 24887148 Free PMC article.
-
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach.J Multidiscip Healthc. 2015 Jul 29;8:345-58. doi: 10.2147/JMDH.S54802. eCollection 2015. J Multidiscip Healthc. 2015. PMID: 26251611 Free PMC article. Review.
-
Neutropenia in Barth syndrome: characteristics, risks, and management.Curr Opin Hematol. 2019 Jan;26(1):6-15. doi: 10.1097/MOH.0000000000000472. Curr Opin Hematol. 2019. PMID: 30451719 Free PMC article. Clinical Trial.
-
TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.Gene. 2020 Feb 5;726:144148. doi: 10.1016/j.gene.2019.144148. Epub 2019 Oct 21. Gene. 2020. PMID: 31647997 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
