Hageman G, Willemse J, van Ketel B A, Verdonck A F
Neuropediatrics. 1987 Feb;18(1):22-33. doi: 10.1055/s-2008-1052430.
A comprehensive prospective clinical study is presented of 75 cases of fetal hypokinesia and congenital contractures of various causes, with neuropathological investigation in 23 cases. With the data of medical history, neurological examination, laboratory tests and neuropathology an exact or probable nosological or syndromal diagnosis could be made in 61 cases. These cases were categorized by localisation of causal pathology in the subsequent levels of the developing motor system. In 14 of 61 cases developmental brain disorders (f.i. hydrocephalus, hydranencephaly, microcephaly) were the cause of fetal hypokinesia, often with perinatal death, whereas in 7 cases both cerebral and/or spinal cord lesions were found. Besides cerebral involvement was frequently present in cases with congenital contractures of other origin, concomitant or due to perinatal complications. In a large number of cases clinical evidence of spinal cord lesions, especially anterior horn cell degeneration was present. Myopathic disorders occurred in only four cases, whereas congenital myasthenia and congenital neuropathy were present in one case each. In cases without muscle weakness miscellaneous disorders including congenital skin anomalies and probably primary connective tissue disorders were encountered. The etiologic role of intrauterine viral infection is discussed.
本文对75例各种病因导致的胎儿运动减少和先天性挛缩进行了全面的前瞻性临床研究，其中23例进行了神经病理学检查。根据病史、神经系统检查、实验室检查和神经病理学数据，61例可做出确切或可能的病因学或综合征诊断。这些病例根据发育中的运动系统后续水平的病因病理定位进行分类。61例中有14例发育性脑疾病（如脑积水、无脑积水、小头畸形）是胎儿运动减少的原因，常伴有围产期死亡，而7例同时发现脑和/或脊髓病变。此外，在其他原因引起的先天性挛缩病例中，常伴有或由于围产期并发症而出现脑部受累。在大量病例中，存在脊髓病变的临床证据，尤其是前角细胞变性。肌病仅发生4例，先天性肌无力和先天性神经病各1例。在无肌无力的病例中，遇到了包括先天性皮肤异常和可能的原发性结缔组织疾病在内的各种疾病。讨论了宫内病毒感染的病因学作用。
