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单侧眼球突出作为一名年轻成年人急性髓系白血病的首发表现

Unilateral Proptosis as the Initial Manifestation of Acute Myeloid Leukemia in a Young Adult.

作者信息

Nath Upamanyu, Gupta Juhi, Chakraborti Chandana

机构信息

Ophthalmology, Nilratan Sircar Medical College and Hospital, Kolkata, IND.

Ophthalmology, Medical College and Hospital, Kolkata, Kolkata, IND.

出版信息

Cureus. 2024 Nov 3;16(11):e72927. doi: 10.7759/cureus.72927. eCollection 2024 Nov.

Abstract

A 22-year-old male presented with progressive unilateral proptosis, conjunctival chemosis, and vision loss in the right eye over the course of one month, without associated systemic symptoms such as fever, fatigue, or infections. Initial imaging, including CT and MRI, suggested benign orbital conditions like cavernous hemangioma or orbital pseudotumor. Despite the absence of systemic signs, hematological investigations revealed anemia, thrombocytopenia, and leukocytosis. A peripheral blood smear raised suspicion of a hematologic malignancy, which was confirmed by bone marrow biopsy, diagnosing acute myeloid leukemia (AML) with the t(8;21) translocation, a favorable cytogenetic subtype associated with AML with maturation. The patient was promptly started on induction chemotherapy with cytarabine and daunorubicin, resulting in a significant reduction of proptosis, improved extraocular movement, and partial restoration of vision. This case illustrates the unusual presentation of AML with initial ocular involvement, a rare but critical manifestation, and emphasizes the importance of considering hematological malignancies in young patients presenting with unexplained proptosis. Multidisciplinary collaboration led to a timely diagnosis and effective treatment. Early recognition and prompt initiation of chemotherapy are essential for both systemic remission and ocular recovery in such atypical cases.

摘要

一名22岁男性在一个月内出现进行性单侧眼球突出、结膜水肿和右眼视力丧失,无发热、疲劳或感染等相关全身症状。包括CT和MRI在内的初始影像学检查提示为海绵状血管瘤或眼眶假瘤等良性眼眶疾病。尽管没有全身症状,但血液学检查显示贫血、血小板减少和白细胞增多。外周血涂片检查引发了对血液系统恶性肿瘤的怀疑,骨髓活检证实了这一怀疑,诊断为伴有t(8;21)易位的急性髓系白血病(AML),这是一种与成熟型AML相关的有利细胞遗传学亚型。患者立即开始接受阿糖胞苷和柔红霉素诱导化疗,眼球突出明显减轻,眼球运动改善,视力部分恢复。该病例说明了AML以眼部最初受累的不寻常表现,这是一种罕见但关键的表现,并强调了在出现不明原因眼球突出的年轻患者中考虑血液系统恶性肿瘤的重要性。多学科协作实现了及时诊断和有效治疗。对于此类非典型病例,早期识别并及时开始化疗对于全身缓解和眼部恢复都至关重要。

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