1. Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
- Author
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Papadopoulou-Legbelou, Kyriaki, Ntoumpara, Maria, Kavga, Maria, Kotanidou, Eleni P., Papoulidis, Ioannis, Galli-Tsinopoulou, Assimina, and Fotoulaki, Maria
- Subjects
DILATED cardiomyopathy ,GROWTH disorders ,RECESSIVE genes ,ATAXIA ,SYNDROMES ,VITAMIN D - Abstract
Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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