Fernández-Torre José L, Teja José L, Castellanos Alvaro, Figols Javier, Obeso Tomás, Arteaga Rosa
Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla (IFIMAV), Avenida Valdecilla, s/n, 39008 Santander, Cantabria, Spain.
Brain Dev. 2008 Oct;30(9):599-602. doi: 10.1016/j.braindev.2008.02.005. Epub 2008 Apr 1.
We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene).
我们报告了一例患有I型脊髓性肌萎缩症（SMA I型或韦尼克-霍夫曼病）的新生儿病例，该患儿最初被误诊为危重病性神经病。肌电图（EMG）显示神经源性和肌病性表现的随意和运动单位电位均有中度丧失。神经传导研究显示存在严重的感觉运动轴索性神经病。最后，股四头肌活检结果与I型SMA的诊断相符。基因研究证实端粒存活运动神经元基因（SMN1基因）的外显子7和8纯合缺失。
