Porro G, Carboni P, Spagnoli L G, Palmieri G
I Cattedra di Neuropsichiatria Infantile, Università La Sapienza, Roma.
Riv Neurol. 1987 Jul-Aug;57(4):251-60.
Forty children with hypotonia and non progressive cerebral impairment were observed. In all cases muscle morpho-histometric and ultrastructural studies were performed, in 13 cases muscular acetylcholinesterase study was carried out. The Authors pointed out the high frequency (92% of cases) of muscle abnormalities: histochemical alteration of fibre type distribution (type 1 or type 2 fibres prevalence, type 2C persistence), diameter change (hypertrophy or hypotrophy of the fibres). In 37.5% of the cases, randomly distributed, were also present myofibrillar degeneration, Z band streaming, desalignment or marked destructuration of the sarcomeres. The muscular acetylcholinesterase study showed the same anomalous pattern of molecular forms (11 out of 13 cases), with increase of light (6S, 4S) and disappearance of heavy (16S) and medium forms (13S, 10S), without significant change of enzymatic activity. The possible alterated influence of CNS on muscle fibre differentiation and growth because of abnormal neural control is discussed. This hypothesis even if could be related with abnormal fibre typing and diameter, do not seem to explain the ultrastructural and biochemical abnormalities observed.
观察了40例肌张力减退且非进行性脑损伤的儿童。对所有病例均进行了肌肉形态组织计量学和超微结构研究，对13例进行了肌肉乙酰胆碱酯酶研究。作者指出肌肉异常的高发生率（92%的病例）：纤维类型分布的组织化学改变（1型或2型纤维优势、2C型持续存在）、直径变化（纤维肥大或萎缩）。在37.5%随机分布的病例中还存在肌原纤维变性、Z带流、肌节排列紊乱或明显破坏。肌肉乙酰胆碱酯酶研究显示分子形式有相同的异常模式（13例中的11例），即轻形式（6S、4S）增加，重形式（16S）和中形式（13S、10S）消失，酶活性无显著变化。讨论了由于异常神经控制中枢神经系统对肌纤维分化和生长可能产生的改变影响。该假说即使可能与纤维类型和直径异常有关，似乎也无法解释所观察到的超微结构和生化异常。
