期刊
BMJ CASE REPORTS
卷 14, 期 5, 页码 -出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/bcr-2021-243134
关键词
haematology (incl blood transfusion); neurosurgery
This report describes a patient with May-Hegglin anomaly who presented with a rare spontaneous subdural haematoma requiring surgery on two occasions. Symptoms of MYH9-RD are typically mild, with life-threatening haemorrhage being rare.
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.
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