Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage
| Autor: | Filipe André Gonzalez, Rita Varudo, Inês Pimenta, Filipa Castelao |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
0301 basic medicine medicine.medical_specialty Case Report 030105 genetics & heredity law.invention 03 medical and health sciences 0302 clinical medicine law medicine.artery Intensive care medicine Humans Medical history Genetic Testing medicine.diagnostic_test business.industry Abdominal aorta Interventional radiology General Medicine Subarachnoid Hemorrhage medicine.disease Intensive care unit Surgery Intensive Care Units Dissection Collagen Type III Ehlers–Danlos syndrome Mutation Ehlers-Danlos Syndrome Female 030211 gastroenterology & hepatology Neurosurgery business |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| Popis: | Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur. |
| Databáze: | OpenAIRE |
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