PDF(Pubmed)
Abstract：
Leukoencephalopathy (LE), characterized by structural changes affecting cerebral white matter, presents a complex clinical picture with diverse etiologies. This case report details the presentation, clinical findings, and physiotherapy management of a 32-year-old female with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy and a history of diabetes and hypertension. She suddenly stopped her medications, which led to the worsening of her condition. She presented with symptoms of headache, slurred speech, visual disturbances, cognitive impairment, and impaired balance and coordination, due to which her activities of daily living were affected. The symptoms highlighted the challenges and multidisciplinary approach required for its management. The patient exhibited neurological deficits, cognitive decline, and abnormal reflexes, with magnetic resonance imaging (MRI) revealing white matter abnormalities. Outcome measures demonstrated significant improvements in cognitive and functional abilities, emphasizing the effectiveness of tailored rehabilitation in managing the complexities of colony-stimulating factor 1 receptor-related leukoencephalopathy. A six-week physiotherapy rehabilitation program addressed various domains, including strength training, task-specific exercises, errorless learning, facial muscle retraining, balance exercises, visual restoration therapy, and mobility training. All these interventions effectively improved her functional capacity and made the patient independent in performing activities of daily living.
摘要：
白质脑病(LE),以影响脑白质的结构变化为特征，提出了一个复杂的临床表现与不同的病因。此案例报告详细介绍了演示文稿，临床发现，1名32岁女性患有集落刺激因子1受体（CSF1R）相关性白质脑病，有糖尿病和高血压病史。她突然停药了,这导致了她病情恶化.她出现了头痛的症状,含糊不清的讲话，视觉障碍,认知障碍，平衡和协调受损，因此，她的日常生活活动受到影响。症状突出了其管理所需的挑战和多学科方法。病人表现出神经功能缺损,认知能力下降,和异常的反射,磁共振成像（MRI）显示白质异常。结果指标表明，认知和功能能力显着改善，强调量身定制的康复治疗在控制集落刺激因子1受体相关白质脑病复杂性方面的有效性。为期六周的物理治疗康复计划涉及各个领域，包括力量训练,特定任务的练习，无差错的学习，面部肌肉再训练，平衡练习，视觉恢复治疗，和流动性培训。所有这些干预措施都有效地改善了她的功能能力，并使患者独立进行日常生活活动。
