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以双侧视神经病变和感音神经性听力损失为首发临床表现的慢性髓性白血病:一例报告

Chronic Myeloid Leukemia Presenting With Bilateral Optic Neuropathy and Sensorineural Hearing Loss as the First Clinical Presentation: A Case Report.

作者信息

Ejaz Sameen, Nawaz Rabia, Tariq Fakeha, Nawaz Ahmad, Bano Safia, Aslam Ayesha, Khan Fawad, Ahmed Zeeshan, Rashid Aaqib, Saqib Sana

机构信息

Department of Neurology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan.

Department of Pathology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan.

出版信息

Case Rep Neurol Med. 2025 Jan 3;2025:9371576. doi: 10.1155/crnm/9371576. eCollection 2025.

DOI:10.1155/crnm/9371576
PMID:39802596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11724030/
Abstract

Chronic myeloid leukemia (CML) is a myeloproliferative disorder that commonly manifests in chronic, accelerated, or blast phase. Typically observed in individuals aged 60-65 years, CML is infrequently diagnosed in adolescents. The usual presentation in late adulthood involves nonspecific symptoms such as fever, fatigue, and weight loss, with rare reports of initial neurological involvement. A 17-year-old male presented with bilateral vision loss and profound hearing loss, alongside a medical history marked by fever, night sweats, and weight loss. A positive tuberculosis contact raised suspicions of tuberculous meningitis, while cervical and inguinal lymphadenopathy suggested the possibility of neurosarcoidosis. Despite clinical signs pointing toward a neurological cause, elevated white blood cell (WBC) count, a bone marrow biopsy, and the identification of BCR-ABL translocation through chromosomal analysis surprisingly revealed a diagnosis of CML in the chronic phase. This case underscores the importance of considering hematological malignancy as a differential in cases of multiple cranial neuropathies, especially if supported by systemic symptoms. Understanding the diverse presentations of CML is essential for clinicians to provide timely and appropriate interventions particularly in young patients where it could mimic other neurological disorders leading to diagnostic challenges and delay in treatment initiation.

摘要

慢性髓系白血病(CML)是一种骨髓增殖性疾病,通常表现为慢性期、加速期或急变期。CML通常在60 - 65岁的个体中观察到,在青少年中很少被诊断出来。成年晚期的常见表现包括发热、疲劳和体重减轻等非特异性症状,最初出现神经系统受累的报告罕见。一名17岁男性出现双侧视力丧失和严重听力丧失,同时有发热、盗汗和体重减轻的病史。有结核病接触史增加了结核性脑膜炎的怀疑,而颈部和腹股沟淋巴结肿大提示神经结节病的可能性。尽管临床体征指向神经系统病因,但白细胞(WBC)计数升高、骨髓活检以及通过染色体分析鉴定出BCR-ABL易位,令人惊讶地揭示为慢性期CML诊断。该病例强调了在多发性颅神经病变病例中考虑血液系统恶性肿瘤作为鉴别诊断的重要性,特别是如果有全身症状支持时。了解CML的多种表现对于临床医生及时提供适当干预至关重要,尤其是在年轻患者中,因为它可能模仿其他神经系统疾病,导致诊断挑战和治疗开始延迟。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/ab3eabd7427c/CRINM2025-9371576.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/e88ebf282b05/CRINM2025-9371576.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/10f7caefe175/CRINM2025-9371576.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/ab3eabd7427c/CRINM2025-9371576.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/e88ebf282b05/CRINM2025-9371576.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/10f7caefe175/CRINM2025-9371576.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf73/11724030/ab3eabd7427c/CRINM2025-9371576.003.jpg

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本文引用的文献

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Int Med Case Rep J. 2022 Jul 12;15:367-371. doi: 10.2147/IMCRJ.S371745. eCollection 2022.
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慢性髓性白血病:过去、现在和未来的典范疾病。
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