Figueiredo Ana Sofia, Da Silva Cardoso Juliana, Santos Manuela, Garrido Cristina
Pediatrics, Hospital de São Pedro, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Paediatric Neurology, Centro Materno Infantil do Norte, Unidade Local de Saúde de Santo António, Porto, PRT.
Cureus. 2024 Dec 2;16(12):e74966. doi: 10.7759/cureus.74966. eCollection 2024 Dec.
We present a novel case of a school-aged boy with scoliosis and progressive muscle weakness, featuring new onset hypotonia and respiratory distress. Genetic analysis revealed two heterozygous variants in the MEGF10 gene: one known pathogenic variant and one novel missense variant. This case illustrates the heterogeneous phenotype of early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), according to the mutations associated, and underscores the importance of early genetic testing. Among the few cases described in the literature, few report symptom onset and diagnoses after the first years of life, unlike the case reported here. Additionally, this report alerts for the suspicion of myopathy in children with severe scoliosis and recurrent respiratory infections and revises the current knowledge of EMARDD, emphasizing the necessity for comprehensive and timely treatment approaches.
我们报告了一例新的病例，一名学龄男孩患有脊柱侧弯和进行性肌肉无力，表现为新发的肌张力减退和呼吸窘迫。基因分析显示MEGF10基因存在两个杂合变异：一个是已知的致病变异，另一个是新的错义变异。根据相关突变情况，该病例说明了早发性肌病、无反射、呼吸窘迫和吞咽困难（EMARDD）的异质性表型，并强调了早期基因检测的重要性。在文献中描述的少数病例中，很少有报告在生命的头几年之后出现症状和诊断的情况，与本文报告的病例不同。此外，本报告提醒人们要怀疑患有严重脊柱侧弯和反复呼吸道感染的儿童存在肌病，并修订了目前关于EMARDD的知识，强调了全面及时治疗方法的必要性。
