Nevo Y, Pestronk A, Lopate G, Carroll S L
Department of Neurology, Barnes and St. Louis Children's Hospital, Washington University School of Medicine, USA.
Pediatr Neurol. 1996 Oct;15(3):237-9. doi: 10.1016/s0887-8994(96)00164-6.
A 4-year-old child with metachromatic leukodystrophy was initially diagnosed with chronic immune demyelinating polyneuropathy and treated with immunosuppressive therapy. Physical examination revealed diffuse, distal > proximal weakness and areflexia. Electro-diagnostic studies revealed nerve conduction velocities that were slowed to variable degrees in different nerves. In the 18 months after institution of immunomodulating therapy, she had functionally significant improvement and a quantitative increase in her strength. Treatment was discontinued at age 6 years when the patient developed urinary incontinence, followed by loss of motor and cognitive skills. We conclude that immunomodulation early in the course of metachromatic leukodystrophy presenting as a neuropathy may result in temporary functional improvement. Whether the immunomodulation altered the disease progression or had direct effects on the function of the dysmyelinated axons is not known.
一名患有异染性脑白质营养不良的4岁儿童最初被诊断为慢性免疫性脱髓鞘性多发性神经病，并接受了免疫抑制治疗。体格检查发现弥漫性、远端>近端肌无力和腱反射消失。电诊断研究显示不同神经的神经传导速度有不同程度减慢。在开始免疫调节治疗后的18个月里，她在功能上有显著改善，力量也有定量增加。患者6岁时出现尿失禁，随后运动和认知技能丧失，治疗中断。我们得出结论，在表现为神经病的异染性脑白质营养不良病程早期进行免疫调节可能会导致暂时的功能改善。免疫调节是否改变了疾病进程或对脱髓鞘轴突的功能有直接影响尚不清楚。
