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Hemorrhagic Infarct as a Rare Presentation of Vascular Ehlers-Danlos Syndrome in a 40-Year-Old Female: A Case Report
Wahab Moustafa1, Taranpreet Singh2, Arzoo Siddiqi3
1Neurosurgery, SRH Wald-Klinikum Gera, Gera, DEU.
Abstract:
This case report presents a 40-year-old female with vascular Ehlers-Danlos Syndrome (vEDS) who presented with acute right-sided weakness and altered consciousness due to a rare hemorrhagic infarct in the left middle cerebral artery (MCA) territory. Initial examination revealed severe neurological impairment and subtle signs of connective tissue disorder, including skin hyperextensibility and joint hypermobility. Imaging confirmed a hemorrhagic infarct, while laboratory findings showed leukocytosis, anemia, and hypokalemia. Given her family history and clinical features, genetic testing confirmed a COL3A1 mutation diagnostic of vEDS. Management included blood pressure control, potassium replacement, and intracranial pressure reduction, followed by a long-term care plan. This case emphasizes the importance of considering vEDS in atypical vascular presentations and highlights the value of genetic testing in diagnosing this high-risk condition.
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