Background/Introduction
Patients with connective tissue disorders are at higher risk of cerebrovascular diseases, including aneurysm, dissection and acute ischaemic stroke. This predisposition is thought to be due to weakening of the vessel walls through genetic mutations affecting collagen and proteoglycans forming the extracellular matrix. Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder affecting six Transforming Growth Factor Beta (TGFβ) signalling genes, presenting with vascular abnormalities including; aortic aneurysm, pseudoaneurysm, and generalised arterial tortuosity (1,2,3).
Results/ presentation
We report a case of a 58-year-old woman who was referred by her general practitioner for Neurologist review, with a history of falls, peripheral neuropathy, and intermittent dizziness. Initial complete neurological examination demonstrated only waddling gait. She was diagnosed with vertebral artery compression syndrome following Magnetic Resonance Imaging (MRI) of the brain and spine demonstrating codominant, ectatic and tortuous vertebral arteries, with right vertebral artery ectasia causing medullary compression. During the work up, the patient’s 18-year-old son presented acutely with stroke secondary to bilateral carotid artery dissection. This led to genetic testing of both patients which confirmed a mutation in the SMAD3 gene consistent with a diagnosis of LDS type 3.
Conclusion
This case highlights that genetic testing should be considered in patients with atypical intracranial vascular imaging features such as tortuous arteries and atraumatic bilateral dissections. It also highlights the importance of capturing a broad family history given the phenotypic heterogeneity in genetic disease.