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.

家族性原发性肌纤维病通常为常染色体显性遗传，发病年龄为 20 至 40 岁，伴有进行性肌肉无力和萎缩、心肌病和心律失常。心脏特征可能先于肌肉无力出现。在这里，我们报告了两个兄弟姐妹在儿科时期出现骨线病的罕见病例，这是由于 DES 中的纯合无义变异 (c.700G > T [p.Glu234Ter])，代表常染色体隐性遗传模式。这些变体的纯合状态预计将导致结蛋白完全不产生。与更常见的常染色体显性变异相比，罕见的常染色体隐性 DES 变异与更早的临床表现（从儿童期到成年早期）和更快的进化相关。正常的静息心电图 (ECG) 和心脏超声检查可能是一个陷阱，正如我们的患者在心脏磁共振成像 (MRI) 上看到的那样，该患者有广泛的纤维化疤痕。我们建议所有无症状患者从 10 岁起每年进行心脏超声检查、每年 24 小时动态心电图监测和每年 2 次心脏 MRI 检查。杂合子患者通常没有或只有轻微的不适，但尽管尚未在常染色体隐性遗传性肌纤维病中报告，但有可能出现肌肉不适，正如我们患者的父亲所见。这些儿童时期患有骨纤维病的患者的预后是不可预测的，但预计很差。