Leistikow E A, Jones N E, Josephson K D, de Sierra T M, Costakos D T, Sprague D, Gorch D H, Asonye U O
Neonatal-Perinatal Medicine Division of the Pediatrix Medical Group, Gulf Coast Medical Center, Panama City, Florida 32406-5309, USA.
Pediatr Pulmonol. 1999 Aug;28(2):149-53. doi: 10.1002/(sici)1099-0496(199908)28:2<149::aid-ppul12>3.0.co;2-w.
Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy. Deletions in the survival motor neuron gene are believed responsible for autosomal-recessive SMA. SMA affects about 1 in 10,000 births. Symptomatic newborns have severe hypotonia, may have respiratory distress, may be unable to feed, and rapidly progress to death early in infancy. This paper describes another early pulmonary manifestation of SMA, i.e., migrating or rotating atelectasis, in 2 patients with infantile SMA. Migrating or rotating atelectasis may suggest the diagnosis of SMA.
脊髓性肌萎缩症（SMA）或韦尼克 - 霍夫曼病是第二常见的神经肌肉疾病，25%的病例在婴儿期出现。生存运动神经元基因的缺失被认为是常染色体隐性脊髓性肌萎缩症的病因。脊髓性肌萎缩症在每10000例出生中约有1例受影响。有症状的新生儿有严重的肌张力减退，可能有呼吸窘迫，可能无法进食，并在婴儿早期迅速进展至死亡。本文描述了2例婴儿型脊髓性肌萎缩症患者中脊髓性肌萎缩症的另一种早期肺部表现，即迁移性或旋转性肺不张。迁移性或旋转性肺不张可能提示脊髓性肌萎缩症的诊断。
