Böhles H, Wenzel D, Shin Y S
Eur J Pediatr. 1986 Oct;145(5):413-7. doi: 10.1007/BF00439251.
Progressive cerebellar and extrapyramidal motor disturbances are described in two 16-year-old female twins with classical galctosaemia. The neurological disturbances, characterized by hyper- and dysmetric movements and bilateral intention tremor with choreatic, atactic and even ballistic motor storms, appeared at 12 years of age. Computerized tomography demonstrates cerebral atrophy in cerebellar, brain stem and basal ganglia structures. The central conduction times, determined by somatosensible evoked potentials, are grossly prolonged; the peripheral nerve conduction velocities are normal. The neurological sequelae described are considered a distinct entity in the course of galactosaemia.
两名患有典型半乳糖血症的16岁女性双胞胎出现了进行性小脑和锥体外系运动障碍。神经功能障碍表现为运动过度和运动失调，伴有舞蹈样、共济失调甚至投掷样运动风暴的双侧意向性震颤，于12岁时出现。计算机断层扫描显示小脑、脑干和基底节结构存在脑萎缩。体感诱发电位测定的中枢传导时间明显延长；周围神经传导速度正常。所描述的神经后遗症被认为是半乳糖血症病程中的一种独特病症。
