Neuen-Jacob E, Voit T, Turski J, Lenard H G, Wechsler W
Department of Neuropathology, University of Düsseldorf, FRG.
Clin Neuropathol. 1987 Nov-Dec;6(6):236-40.
We report a case of neonatal myotonic dystrophy in a premature infant of 34 weeks gestation. The striking pathological feature in muscle biopsy was severe generalized fiber hypotrophy. Histochemical stains for myofibrillar ATPase revealed a uniform fiber type of intermediate staining characteristics (Type II C). Oxidative preparations showed a light peripheral sarcoplasmic halo without enzymatic activity in most fibers. Ultrastructurally, fiber periphery consisted of a sarcoplasmic rim devoid of myofibrils and mitochondria and rich in glycogen granules and some vesicles. Satellite cells were numerous. Pathologic findings characteristic of the adult form of the disease were lacking. These morphological features were interpreted as a marked delay in fetal muscle maturation. The purpose in this paper is to present the unique pattern of myopathologic findings.
我们报告一例孕34周早产新生儿的强直性肌营养不良病例。肌肉活检中显著的病理特征是严重的全身性纤维萎缩。肌原纤维ATP酶的组织化学染色显示纤维类型均一，具有中间染色特征（II C型）。氧化制剂显示大多数纤维的外周肌浆有淡色晕，且无酶活性。超微结构上，纤维外周由肌浆边缘组成，缺乏肌原纤维和线粒体，富含糖原颗粒和一些小泡。卫星细胞数量众多。缺乏该疾病成人形式的特征性病理表现。这些形态学特征被解释为胎儿肌肉成熟的明显延迟。本文旨在呈现肌病病理表现的独特模式。
