PDF(Pubmed)
Abstract：
BACKGROUND: Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function. But if only 1 disease is treated while neglecting the other, the treatment effect will be compromised. Here, for the first time, we report a case from China diagnosed with both these diseases and treated properly.
METHODS: A boy was admitted to the Children\'s Hospital Affiliated to Shandong University (Jinan, China) due to \"limb weakness for 19 months\" when he was 22 months old. Considering that the child\'s motor function development is delayed, we made a comprehensive examinations including inherited metabolic diseases and found a significantly increase of phenylalanine concentration in the blood which indicating PKU. Combined with his typical clinical manifestations of SMA, target capture sequencing followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) technologies were used for genetic confirmation.
METHODS: SMA and PKU was confirmed.
METHODS: The child was treated with risdiplam and low phenylalanine formula immediately when he was diagnosed with both SMA and PKU.
RESULTS: The child showed remarkable improvement in motor function and significant decrease of blood phenylalanine concentration after treatment.
CONCLUSIONS: To our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.
METHODS: A boy was admitted to the Children\'s Hospital Affiliated to Shandong University (Jinan, China) due to \"limb weakness for 19 months\" when he was 22 months old. Considering that the child\'s motor function development is delayed, we made a comprehensive examinations including inherited metabolic diseases and found a significantly increase of phenylalanine concentration in the blood which indicating PKU. Combined with his typical clinical manifestations of SMA, target capture sequencing followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) technologies were used for genetic confirmation.
METHODS: SMA and PKU was confirmed.
METHODS: The child was treated with risdiplam and low phenylalanine formula immediately when he was diagnosed with both SMA and PKU.
RESULTS: The child showed remarkable improvement in motor function and significant decrease of blood phenylalanine concentration after treatment.
CONCLUSIONS: To our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.
摘要：
背景：脊髓性肌萎缩（SMA）和苯丙酮尿症（PKU）均由双等位基因致病性突变引起。然而,没有关于同时患有两种疾病的病例的报道。SMA主要影响运动功能，而PKU可能对智力和运动功能都有影响。但是如果只治疗一种疾病而忽略另一种疾病，治疗效果会受到影响。这里,第一次,我们报告了一例来自中国的病例，诊断为这两种疾病，并得到了适当的治疗。
方法：山东大学附属儿童医院（济南，中国）在他22个月大的时候，由于“19个月的肢体无力”。考虑到孩子的运动功能发育延迟，我们进行了包括遗传代谢疾病在内的全面检查，发现血液中苯丙氨酸浓度显着增加，这表明PKU。结合他典型的SMA临床表现，使用靶捕获测序和Sanger测序以及多重连接依赖性探针扩增(MLPA)技术进行遗传确认。
方法：确定了SMA和PKU。
方法：当诊断为SMA和PKU时，立即使用利司普坦和低苯丙氨酸配方进行治疗。
结果：患儿治疗后运动功能明显改善，血苯丙氨酸浓度明显降低。
结论：据我们所知，这是第一例SMA合并PKU的报告病例。此病例扩展了我们对同步SMA和PKU诊断的理解，并强调了全面检查和利用各种基因检测方法对遗传疾病进行准确诊断的重要性，这可能有助于避免某些具有隐匿临床症状的遗传性疾病引起的进行性损害。
方法：山东大学附属儿童医院（济南，中国）在他22个月大的时候，由于“19个月的肢体无力”。考虑到孩子的运动功能发育延迟，我们进行了包括遗传代谢疾病在内的全面检查，发现血液中苯丙氨酸浓度显着增加，这表明PKU。结合他典型的SMA临床表现，使用靶捕获测序和Sanger测序以及多重连接依赖性探针扩增(MLPA)技术进行遗传确认。
方法：确定了SMA和PKU。
方法：当诊断为SMA和PKU时，立即使用利司普坦和低苯丙氨酸配方进行治疗。
结果：患儿治疗后运动功能明显改善，血苯丙氨酸浓度明显降低。
结论：据我们所知，这是第一例SMA合并PKU的报告病例。此病例扩展了我们对同步SMA和PKU诊断的理解，并强调了全面检查和利用各种基因检测方法对遗传疾病进行准确诊断的重要性，这可能有助于避免某些具有隐匿临床症状的遗传性疾病引起的进行性损害。
