Rufo Campos M, Chinchón Lara I, Arias León E, Martínez López A, Gómez de Terreros I
Sección de Neuropediatría, Hospital Infantil Universitario Virgen del Rocío, Sevilla.
Neurologia. 1993 Mar;8(3):105-9.
Forty-three cases of infantile spinal muscular atrophy diagnosed in our department between 1977 to 1991 are presented. Following clinical-pathologic evaluation, 27 cases were included in type I, 7 in type II and 9 cases in type III. The most frequent pathologic finding was the presence of large groups of atrophic fibers and hypertrophy of isolated fibers in muscle biopsy. Enzyme study showed higher mean levels of CPK and aldolase in type I with respect to the other two. Likewise, a significant statistical difference was found in the age of onset of the different groups. Finally, the clinical classification of spinal muscular atrophies in infancy is discussed.
本文报告了1977年至1991年间在我科诊断的43例婴儿脊髓性肌萎缩症病例。经过临床病理评估，I型27例，II型7例，III型9例。肌肉活检最常见的病理表现是出现大量萎缩纤维群和孤立纤维肥大。酶学研究显示，I型肌酸磷酸激酶（CPK）和醛缩酶的平均水平高于其他两型。同样，不同组的发病年龄存在显著统计学差异。最后，讨论了婴儿期脊髓性肌萎缩症的临床分类。
