以小脑为主要表现的Erdheim-Chester病1例报告并文献复习。

IF 0.4 Q3 MEDICINE, GENERAL & INTERNAL

Oxford Medical Case Reports Pub Date : 2025-09-28 eCollection Date: 2025-09-01 DOI:10.1093/omcr/omaf161

Sajjad Ghanim Al-Badri, Aditya Duhan, Rania H Al-Taie, Muntadher Yousif Hasan Al Gehadi, Abdullah Afridi

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引用次数: 0

摘要

埃尔德海姆-切斯特病（ECD）是一种罕见的疾病，其特征是脂质组织细胞全身浸润，通常是由BRAFV600E突变引起的。我们提出的情况下，中年男性进行性小脑功能障碍和梗阻性脑积水。MRI显示双侧小脑肿块伴第四脑室消失。组织病理证实CD68、CD163阳性，CD1a阴性。最初的治疗包括外脑室引流，系统评估和分子检测指导进一步治疗，强调多模式诊断和量身定制治疗对改善结果的重要性。

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Erdheim-Chester disease with predominant cerebellar manifestations: a case report with literature review.

Erdheim-Chester disease (ECD) is a rare disorder marked by systemic infiltration of lipid-laden histiocytes, often due to BRAFV600E mutations. We present the case of a middle-aged male with progressive cerebellar dysfunction and obstructive hydrocephalus. MRI revealed a non-enhancing bilateral cerebellar mass with effacement of the fourth ventricle. The diagnosis was confirmed by histopathology showing CD68 and CD163 positivity and CD1a negativity. Initial management included an external ventricular drain, with systemic evaluation and molecular testing to guide further treatment, emphasizing the importance of multimodal diagnostics and tailored therapy in improving outcomes.

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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.