Nagai T, Tuchiya Y, Maruyama A, Sakuta R, Nonaka I
Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Pediatr Neurol. 1993 May-Jun;9(3):239-42. doi: 10.1016/0887-8994(93)90094-s.
A 9-year-old boy with severe growth retardation, mild mental retardation, and hypospadia had a high serum CK level without muscle weakness and atrophy. Muscle biopsy revealed a moderate variation in fiber size with a few necrotic and scattered regenerating fibers. Although muscle membranes were clearly stained by immunostaining with antibody to dystrophin, N-terminal region (2-5E2), fibers in groups revealed striking, intense staining with the other antibody, C-terminal region (4C5), suggesting some aberration of the dystrophin gene near the C-terminal area. His unique clinical features, as well as myopathy, are reported, although further study is necessary to clarify the relationship between the anomalous conditions and dystrophin abnormalities.
一名9岁男孩有严重生长发育迟缓、轻度智力障碍和尿道下裂，血清肌酸激酶（CK）水平升高，但无肌肉无力和萎缩。肌肉活检显示肌纤维大小有中度差异，有一些坏死和散在的再生纤维。尽管用抗肌营养不良蛋白N端区域（2 - 5E2）抗体进行免疫染色时肌膜染色清晰，但成群的纤维在用另一种抗体抗肌营养不良蛋白C端区域（4C5）染色时显示出显著的强染色，提示肌营养不良蛋白基因在C端区域附近存在一些异常。本文报告了他独特的临床特征以及肌病，不过需要进一步研究以阐明这些异常情况与肌营养不良蛋白异常之间的关系。
