Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome

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• 作者：Amal Al Teneiji ; MD^a ; Komudi Siriwardena ; MD^b ; Kristen George ; NP^c ; Seema Mital ; MD^c ; Saadet Mercimek-Mahmutoglu ; MD ; PhD^a ; ^d ; ^{saadet.mahmutoglu@sickkids.ca" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ataxia ; dilated cardiomyopathy ; DNAJC19 gene ; cerebellar atrophy ; 3-methylglutaconic acid
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：62
• 期：Complete
• 页码：58-61
• 全文大小：668 K

文摘

The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of progressive cerebellar atrophy.

Patient Description and Results

We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy. During follow-up, her cardiac phenotype improved but she exhibited progressive cerebellar atrophy and developed bilateral increased T2 signal intensities in the thalami, parietal lobes, and pons on magnetic resonance imaging. Dilated cardiomyopathy and 3-methylglutaconic aciduria in her urine organic acid analysis also improved.

Conclusions

This child with dilated cardiomyopathy with ataxia syndrome developed progressive cerebellar atrophy, a novel feature of this syndrome. In individuals with global developmental delay, hypotonia, ataxia, the dilated cardiomyopathy with ataxia syndrome should be considered even in the differential diagnosis in the absence of cardiomyopathy or 3-methylglutaconic aciduria.