Vajsar J, Balslev T, Ray P N, Siegel-Bartelt J, Jay V
Division of Neurology, The Hospital for Sick Children and University of Toronto, Ontario, Canada.
Neurology. 1998 Sep;51(3):873-5. doi: 10.1212/wnl.51.3.873.
A 5-week-old boy became rigid and developed cardiac arrest after receiving succinylcholine. He was resuscitated and ventilated but died at 5 months. Muscle biopsy demonstrated no neurogenic features and numerous cytoplasmic bodies, suggesting the possibility of congenital myopathy with cytoplasmic bodies. However, molecular analysis revealed a homozygous deletion of exons 7 and 8 of the survival motor neuron (SMN) gene, suggesting that the patient had Werdnig-Hoffmann disease. We recommend that every patient with congenital cytoplasmic body myopathy be tested for SMN gene deletion.
一名5周大的男婴在接受琥珀酰胆碱后出现身体僵硬并发生心脏骤停。他经复苏和通气治疗，但在5个月时死亡。肌肉活检未显示神经源性特征，却发现大量胞质体，提示可能为伴有胞质体的先天性肌病。然而，分子分析显示存活运动神经元（SMN）基因外显子7和8纯合缺失，提示该患者患有韦尼克-霍夫曼病。我们建议对每例先天性胞质体肌病患者进行SMN基因缺失检测。
