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一名患有May-Hegglin异常的患者出现自发性和复发性硬膜下血肿。

Spontaneous and recurrent subdural haematoma in a patient with May-Hegglin anomaly.

作者信息

Doherty John Anthony, Millward Christopher Paul, Sarsam Zaid

机构信息

Department of Neurosurgery, The Walton Centre NHS Foundation Trust, Liverpool, UK.

Department of Neurosurgery, The Walton Centre NHS Foundation Trust, Liverpool, UK

出版信息

BMJ Case Rep. 2021 May 7;14(5):e243134. doi: 10.1136/bcr-2021-243134.

Abstract

Both acute and chronic subdural haematomas typically occur following trauma. Non-traumatic causes are less common, but aetiologies include arteriovenous malformation, intracranial aneurysm rupture, tumour-associated haemorrhage and coagulopathies. May-Hegglin anomaly is an example of a coagulopathy, which is caused by a mutation in the gene encoding non-muscle myosin heavy chain 9 (MYH9) and therefore falls into a group of diseases referred to as MYH9-related diseases (MYH9-RD). The symptomology of MYH9-RD is often mild, and patients tend to experience epistaxis, gingival bleeding and bruising. Life-threatening haemorrhage rarely occurs. In this short report, we describe a patient with known May-Hegglin anomaly who presented with a potentially life-threatening, spontaneous subdural haematoma requiring surgery on two occasions. This is only the second such report in the literature, and the first of spontaneous and recurrent haemorrhage in association with May-Hegglin anomaly.

摘要

急性和慢性硬膜下血肿通常都发生于外伤后。非创伤性病因较为少见,其病因包括动静脉畸形、颅内动脉瘤破裂、肿瘤相关性出血和凝血障碍。May-Hegglin异常是一种凝血障碍的例子,它由编码非肌肉肌球蛋白重链9(MYH9)的基因突变引起,因此属于一组被称为MYH9相关疾病(MYH9-RD)的疾病。MYH9-RD的症状通常较轻,患者往往会出现鼻出血、牙龈出血和瘀伤。危及生命的出血很少发生。在本简短报告中,我们描述了一名已知患有May-Hegglin异常的患者,该患者出现了可能危及生命的自发性硬膜下血肿,需要进行两次手术。这是文献中第二篇此类报告,也是第一篇关于与May-Hegglin异常相关的自发性和复发性出血的报告。

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