Robb S A, McShane M A, Wilson J, Payan J
Department of Neurology, Hospital for Sick Children, London, England.
Neuropediatrics. 1991 Feb;22(1):45-6. doi: 10.1055/s-2008-1071415.
We describe two sisters who each presented in infancy with acute, severe, generalised weakness and are-flexia in association with an intercurrent infection. The clinical picture resembled acute polyneuritis, but EMG findings and the later clinical features were consistent with a diagnosis of spinal muscular atrophy. Although symptoms in SMA may be exacerbated by infection, immunisation or trauma, this unusual presentation of the condition in siblings suggests that this may constitute a genetically distinct subgroup of the disorder.
我们描述了两姐妹，她们在婴儿期均因并发感染而出现急性、严重、全身性肌无力和反射消失。临床表现类似于急性多发性神经炎，但肌电图检查结果及后期临床特征与脊髓性肌萎缩症的诊断相符。虽然脊髓性肌萎缩症的症状可能因感染、免疫接种或外伤而加重，但这种疾病在姐妹俩中的不寻常表现提示这可能构成该疾病一个基因上独特的亚组。
