Zahid Anza, Wszolek Zbigniew K, Alchaki Abdul R
Stanley Appel Department of Neurology, Houston Methodist Hospital, Houston, TX, United States.
Department of Neurology, Mayo Clinic, Orlando, FL, United States.
Oxf Med Case Reports. 2025 May 28;2025(5):omaf038. doi: 10.1093/omcr/omaf038. eCollection 2025 May.
Colony stimulating factor-1 receptor encodes for a tyrosine kinase receptor expressed on microglia. related disorder is a devastating autosomal dominant leukoencephalopathy caused by with variable penetrance in adults. It remains significantly underdiagnosed or misdiagnosed. We report a case of a 43-year-old woman with an insidious onset of neurocognitive decline, alien limb phenomenon, and personality changes over 1 year. In this report we will discuss the clinical approach, differential diagnosis, investigation, and available treatment options for related disorder.
集落刺激因子-1受体编码一种在小胶质细胞上表达的酪氨酸激酶受体。相关疾病是一种由[具体原因未提及]引起的毁灭性常染色体显性白质脑病,在成年人中具有可变的外显率。它仍然严重诊断不足或误诊。我们报告了一例43岁女性病例,其在1年多时间里隐匿起病,出现神经认知功能下降、异己肢体现象和人格改变。在本报告中,我们将讨论相关疾病的临床处理方法、鉴别诊断、检查及可用的治疗选择。