摘要
本组病例均在1岁内起病,表现为进行性对称性肢体弛缓性无力.肌电图呈神经原性损害.血清肌酶正常。骨骼肌活检呈神经原性大群束性肌萎缩,组化染色以同型肌群化为主要特征。上述结果提示病变位于脊髓前角;骨骼肌呈失神经支配—再支配—再失支配的病理过程;肌内活检对本病的诊断和鉴别诊断具有重要意义。
17 cases of infantile spinal muscular atrophy have been reviewed.All cases showed severe progressive hypotonia and paralysis with onset in infancy.Electromyogram suggested the evidences of motor neurone involvement.The serum enzyme levels were consistently normal.The basic lesions of muscle biopsy in 13 cases showed neurogenic fascicular muscular atrophy which was characterized by the presence of type grouping of the damaged fibers through histochemistry staining.It is concluded that the pathological changes must be located in spinal anterior horn neuron and the pathologic process of the skeletal muscle involvement in such a disease develops from denervation to renervation and then backs to denervation again.Muscle biopsy has an important value on the diagnosis and differential diagnosis of this disease.
关键词
神经肌肉病
肌萎缩
临床
病理学
neuromuscular diseases
muscle atrophy
biopsy pathology
