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Abstract：
A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 ( BSCL2) , which is related to a spectrum of neurological phenotypes. In the current study, we presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report described the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.
摘要：
Silver综合征是一种罕见的常染色体显性遗传性痉挛性轻瘫，其中下肢痉挛伴有手部小肌肉的肌萎缩。致病基因是Berardinelli-Seip先天性脂肪营养不良2（BSCL2），这与一系列神经表型有关。在目前的研究中,我们介绍了一名14岁男性，患有缓慢进行性的痉挛性轻瘫伴尿失禁，后来表现出鱼间和背侧骨间肌肉萎缩和无力。磁共振成像（MRI）显示call体峡部的离散萎缩，并且扩展的下一代测序小组确定了BSCL2基因中的从头杂合突变，c.269>Tp.（S90L）。BSCL2基因突变的各种临床表达和不完全外显率使这些病例的遗传病因的建立变得复杂。因此,如果最初的表现是儿童期尿路受累引起的痉挛性轻瘫，则应将银综合征包括在鉴别诊断中。即使有MRI非典型发现。该报告描述了首例伊比利亚银综合征病例，该病例从头携带c.269C>Tp。（S90L）BSCL2基因突变。
