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以硬膜外肿块为表现的脊柱尤因肉瘤:一种罕见实体的罕见表现。

Spinal Ewing's Sarcoma Presenting as an Epidural Collection: A Rare Presentation of a Rare Entity.

作者信息

Ganapathy Sibhi, Subramaniam Venugopal, Baliga Vidya

机构信息

Department of Neurosurgery, Manipal Hospital Whitefield, Bengaluru, Karnataka, India.

Department of Pathology, Manipal Hospital Whitefield, Bengaluru, Karnataka, India.

出版信息

Asian J Neurosurg. 2020 May 29;15(2):445-448. doi: 10.4103/ajns.AJNS_371_19. eCollection 2020 Apr-Jun.

Abstract

Rare entities are difficult to predict. They are considered last rightly, to expedite treatment and alleviate symptoms quickly. Rare presentations of rare diseases form a particularly difficult section of diagnoses that are not only impossible to predict but difficult to recognize, diagnose, and treat. Often the dilemma is to, investigate thoroughly saving time but financially burdening the patient and hospital, or, to investigate in gradual increments taking more time and effort, especially in rare cases where prolonged hospitalization and suffering occurs before the diagnosis is reached. This approach, however, wastes critically important time, which, especially in neurological compression, may often lead to irreversible deficits. This dilemma is admirably demonstrated in this case report of spinal Ewing's sarcoma. A young female presented to us with recurrent high cervical epidural collections presenting as compressive myelopathy. She underwent repeated decompressions, and the collection was misdiagnosed as tuberculosis, which was treated without empirical evidence, leading to significant irreversible disability. Finally, when she came to us, the histopathological assessment was done to reveal the diagnosis. Ewing's sarcomas, and indeed the whole gamut of small-round-cell malignancies, are great imitators. They are known to exist in the skull base mimicking schwannomas, chordomas, germinomas, pituitary adenomas, and even epidermoids and occasionally extend to the vertebral bodies and the cranio-vertebral Junction (CVJ) leading to instability and neurological compression. Here, they mimic vertebral tumors, discitis, infective abscesses, and even myeloma. Predictably, such an entity is diagnosed last, and diagnosed late, leading to bad consequences for the patient. Such was the fate of our patient. The report emphasizes the diagnostic dilemma and presents the need to use protocols for diagnosis and treatment, even in rare cases, to effect the best possible outcomes for patients. The use of a thorough diagnostic and management algorhythm prevents deeper and sinister disease processes from being missed.

摘要

罕见病症难以预测。它们理应被放在最后考虑,以便迅速进行治疗并快速缓解症状。罕见疾病的罕见表现构成了诊断中特别困难的一部分,这些表现不仅无法预测,而且难以识别、诊断和治疗。通常的困境在于,是进行全面检查以节省时间,但会给患者和医院带来经济负担,还是逐步进行检查,这需要更多时间和精力,尤其是在罕见病例中,在确诊之前会出现长时间的住院和痛苦。然而,这种方法会浪费极其重要的时间,尤其是在神经受压的情况下,这往往会导致不可逆转的缺陷。脊柱尤因肉瘤的这个病例报告就很好地说明了这种困境。一名年轻女性因反复出现高位颈段硬膜外积液并表现为压迫性脊髓病前来就诊。她接受了多次减压手术,积液被误诊为结核病,在没有实证依据的情况下进行了治疗,导致了严重的不可逆转的残疾。最后,当她来找我们时,进行了组织病理学评估才得以确诊。尤因肉瘤,实际上整个小圆细胞恶性肿瘤范畴,都是极具伪装性的。已知它们存在于颅底,可模仿神经鞘瘤、脊索瘤、生殖细胞瘤、垂体腺瘤,甚至表皮样囊肿,偶尔还会延伸至椎体和颅颈交界区(CVJ),导致不稳定和神经受压。在这里,它们可模仿椎体肿瘤、椎间盘炎、感染性脓肿,甚至骨髓瘤。可以预见,这样的病症最后才会被诊断出来,而且诊断得很晚,给患者带来不良后果。我们的患者就是如此。该报告强调了诊断困境,并提出即使在罕见病例中也需要使用诊断和治疗方案,以实现对患者尽可能好的治疗效果。使用全面的诊断和管理算法可防止遗漏更严重和隐匿的疾病进程。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c3b/7335116/30b6583be90a/AJNS-15-445-g001.jpg

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