Journal
NEUROPEDIATRICS
Volume 54, Issue 4, Pages 279-286Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/a-1871-3692
Keywords
child; homozygous; recessive; desminopathy; cardiac; MRI
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Familial primary desminopathies usually have autosomal dominant inheritance and present with symptoms such as progressive muscle weakness and atrophy, cardiomyopathy, and cardiac arrhythmias. This study reports a rare case of two siblings with desminopathy in childhood, caused by homozygous nonsense variations in the DES gene, showing autosomal recessive inheritance. These variants are expected to result in the complete absence of desmin production. It is recommended to perform regular cardiac assessments in asymptomatic patients, including cardiac ultrasound, 24-hour Holter monitoring, and cardiac MRI.
Familial primary desminopathies are usually autosomal dominantly inherited and present at the age of 20 to 40 years with progressive muscle weakness and atrophy, cardiomyopathy, and cardiac arrhythmias. Cardiac features may precede the muscular weakness. Here, we report the rare case of two siblings presenting with a desminopathy at pediatric age, due to homozygous nonsense variations (c.700G > T [p.Glu234Ter]) in DES, representing an autosomal recessive inheritance pattern. The homozygous state of these variants is expected to result in the complete absence of desmin production. Rare autosomal recessive DES variants are associated with an earlier clinical presentation (from childhood to early adulthood) and faster evolution compared with more common autosomal dominant variants. A normal resting electrocardiography (ECG) and cardiac ultrasound can be a pitfall, as seen in our patient who has extensive fibrotic scarring on cardiac magnetic resonance imaging (MRI). We recommend yearly cardiac ultrasound, yearly 24-hour Holter monitoring and 2 yearly cardiac MRI from the age of 10 years in all asymptomatic patients. Heterozygous patients usually have no or only mild complaints but, though not yet reported in autosomal recessive desminopathies, muscular complaints are possible, as seen in the father of our patients. The prognosis for these patients with desminopathy presenting in childhood is unpredictable but anticipated as poor.
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