Al Teneiji Amal, Siriwardena Komudi, George Kristen, Mital Seema, Mercimek-Mahmutoglu Saadet
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
Department of Medical Genetics, University of Alberta, Edmonton, Canada.
Pediatr Neurol. 2016 Sep;62:58-61. doi: 10.1016/j.pediatrneurol.2016.03.020. Epub 2016 Jun 4.
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.
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.
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.
扩张型心肌病伴共济失调综合征是一种由DNAJC19基因突变引起的罕见常染色体隐性多系统疾病。我们报告了一名新患者，其DNAJC19基因存在新的致病变异，并伴有进行性小脑萎缩这一新的神经影像学表现。
我们描述了一名患有扩张型心肌病伴共济失调综合征的新患者，表现为全面发育迟缓、肌张力减退、共济失调和扩张型心肌病。在随访过程中，她的心脏表型有所改善，但出现了进行性小脑萎缩，磁共振成像显示丘脑、顶叶和脑桥双侧T2信号强度增加。她尿液有机酸分析中的扩张型心肌病和3-甲基戊二酸尿症也有所改善。
这名患有扩张型心肌病伴共济失调综合征的儿童出现了进行性小脑萎缩，这是该综合征的一个新特征。对于全面发育迟缓、肌张力减退、共济失调的个体，即使在没有心肌病或3-甲基戊二酸尿症的鉴别诊断中，也应考虑扩张型心肌病伴共济失调综合征。
