A 43-year-old female with personality changes and alien limb.

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL

Oxford Medical Case Reports Pub Date : 2025-05-28 eCollection Date: 2025-05-01 DOI:10.1093/omcr/omaf038

Anza Zahid, Zbigniew K Wszolek, Abdul R Alchaki

引用次数: 0

Abstract

Colony stimulating factor-1 receptor (CSF1R) encodes for a tyrosine kinase receptor expressed on microglia. CSF1R related disorder is a devastating autosomal dominant leukoencephalopathy caused by CSF1R 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 CSF1R related disorder.

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一名43岁女性，性格改变，四肢畸形。

集落刺激因子-1受体（CSF1R）编码在小胶质细胞上表达的酪氨酸激酶受体。CSF1R相关疾病是一种由CSF1R引起的常染色体显性白质脑病，在成人中具有不同的外显率。它仍然被严重低估或误诊。我们报告一个43岁女性的病例，她在一年多的时间里出现了神经认知能力下降、异肢现象和人格改变。在本报告中，我们将讨论CSF1R相关疾病的临床方法、鉴别诊断、调查和可用的治疗方案。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.