Lo W D, Barohn R J, Bobulski R J, Kean J, Mendell J R
Department of Pediatrics, Ohio State University, Columbus.
Arch Neurol. 1990 Mar;47(3):273-6. doi: 10.1001/archneur.1990.00530030039013.
Four infants presented with severe hypotonia, weakness, and hypoventilation or apnea at birth. Their clinical presentations and courses resembled those of the x-linked recessive form of centronuclear myopathy. Histologic examination of their muscle biopsy specimens showed patterns ranging between centronuclear myopathy and type-1 hypotrophy without central nuclei. Regardless of their gender or the appearance of their biopsy specimens, the children all had a poor outcome. The clinical and biopsy findings in these infants suggest that centronuclear myopathy and type-1 hypotrophy without central nuclei do not represent distinct nosologic entities. It seems more likely that the histologic changes represent abnormalities in fiber size distribution and development, which are nonspecific and which reflect a primary defect at one or more sites in the neuraxis.
四名婴儿出生时出现严重的肌张力减退、肌无力以及通气不足或呼吸暂停。他们的临床表现和病程与X连锁隐性核中央性肌病相似。对他们的肌肉活检标本进行组织学检查，结果显示出介于核中央性肌病和无中央核的1型肌萎缩之间的模式。无论这些孩子的性别如何，也不管其活检标本的外观怎样，他们的预后都很差。这些婴儿的临床和活检结果表明，核中央性肌病和无中央核的1型肌萎缩并不代表不同的疾病实体。组织学变化似乎更有可能代表纤维大小分布和发育的异常，这些异常是非特异性的，反映了神经轴一个或多个部位的原发性缺陷。
