Kyllerman M
Neuropadiatrie. 1977 Feb;8(1):53-6. doi: 10.1055/s-0028-1091504.
A case of infantile spinal muscular atrophy (Werdnig-Hoffmann's disease) with complete proximal pareses obvious at birth giving rise to neonatal asphyxia is reported. Reduction of fetal movements was noted from the 32nd week of pregnancy. The infant was extremely floppy at birth and spontaneous movements were restricted to hands, feet and face. Fibrillations of the tongue, diaphragmatic hemiparesis and dysphagia were observed. Unassisted ventilation was not compatible with survival and the infant succumbed to the disease in the neonatal period. Muscle biopsy and autopsy confirmed the clinical diagnosis. Infantile spinal muscular atrophy causing neonatal asphyxia seems to be unusual and not earlier described. Constant muscular hypotonus in an asphyctic newborn should raise suspicion of a neuromuscular disorder.
报告了一例婴儿型脊髓性肌萎缩症（韦尼克-霍夫曼病），出生时即有明显的完全性近端麻痹，导致新生儿窒息。怀孕32周时发现胎动减少。婴儿出生时极度松软，自主运动仅限于手、脚和面部。观察到舌肌纤维颤动、膈肌偏瘫和吞咽困难。无辅助通气无法维持生命，婴儿在新生儿期死于该病。肌肉活检和尸检证实了临床诊断。婴儿型脊髓性肌萎缩症导致新生儿窒息似乎并不常见，此前也未见报道。窒息新生儿持续存在的肌肉张力减退应引起对神经肌肉疾病的怀疑。
