Abstract：
BACKGROUND: Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the corpus callosum. SMA and callosal hypoplasia are relatively rare, and there is limited information sharing the diagnosis and treatment for SMA patients with callosal hypoplasia.
METHODS: A boy with callosal hypoplasia, small penis, and small testes had been perceived with motor regression at 5 months. He was referred to the rehabilitation department and neurology department at 7 months. Physical examination showed absent deep tendon reflexes, proximal weakness and significant hypotonia. He was recommended to perform trio whole-exome sequencing (WES) and array comparative genomic hybridization (aCGH) for his complicated conditions. The subsequent nerve conduction study revealed some characteristics of motor neuron diseases. We identified a homozygous deletion in exon 7 of the SMN1 gene by multiplex ligation-dependent probe amplification and failed to find further pathogenic variations responsible for multiple malformations by trio WES and aCGH. He was diagnosed as SMA. Despite some concerns, he received the therapy of nusinersen for nearly 2 years. He gained the milestone of sitting without support, which he had never accomplished, after the seventh injection, and he continued to improve. During follow-up, there were no adverse events reported and no signs of hydrocephalus.
CONCLUSIONS: Some extra features which could not belong to neuromuscular manifestation made the diagnosis and treatment of SMA more complicated.
METHODS: A boy with callosal hypoplasia, small penis, and small testes had been perceived with motor regression at 5 months. He was referred to the rehabilitation department and neurology department at 7 months. Physical examination showed absent deep tendon reflexes, proximal weakness and significant hypotonia. He was recommended to perform trio whole-exome sequencing (WES) and array comparative genomic hybridization (aCGH) for his complicated conditions. The subsequent nerve conduction study revealed some characteristics of motor neuron diseases. We identified a homozygous deletion in exon 7 of the SMN1 gene by multiplex ligation-dependent probe amplification and failed to find further pathogenic variations responsible for multiple malformations by trio WES and aCGH. He was diagnosed as SMA. Despite some concerns, he received the therapy of nusinersen for nearly 2 years. He gained the milestone of sitting without support, which he had never accomplished, after the seventh injection, and he continued to improve. During follow-up, there were no adverse events reported and no signs of hydrocephalus.
CONCLUSIONS: Some extra features which could not belong to neuromuscular manifestation made the diagnosis and treatment of SMA more complicated.
摘要：
背景：脊髓性肌萎缩（SMA）是一种严重的神经肌肉疾病，由于存活运动神经元1（SMN1）基因的缺陷。call体发育不全是call体发育不足或变薄。SMA和call骨发育不全相对罕见，关于SMA患者的诊断和治疗信息有限。
方法：一名患有call骨发育不全的男孩，小阴茎,并且在5个月时感觉到小睾丸有运动消退。他在7个月时被转诊到康复科和神经科。体格检查显示缺乏深肌腱反射，近端无力和明显的低张力。对于他的复杂情况，建议他进行三重全外显子组测序（WES）和阵列比较基因组杂交（aCGH）。随后的神经传导研究揭示了运动神经元疾病的一些特征。我们通过多重连接依赖性探针扩增鉴定了SMN1基因外显子7的纯合缺失，但未能发现三重奏WES和aCGH导致多种畸形的进一步致病变异。他被诊断为SMA。尽管有些担忧,他接受了nusinersen的治疗近2年。他获得了无支撑坐的里程碑，这是他从未完成的，在第七次注射后，他继续进步。随访期间,没有不良事件的报告,也没有脑积水的征象.
结论：一些不属于神经肌肉表现的额外特征使SMA的诊断和治疗更加复杂。
方法：一名患有call骨发育不全的男孩，
结论：一些不属于神经肌肉表现的额外特征使SMA的诊断和治疗更加复杂。
