Proximal paraparesis due to aortic dissection extending into bilateral carotid arteries in a patient with Loeys-Dietz syndrome

The authors report a 66 year-old female with past medical history relevant for thoracic abdominal aneurysm who presented with a complaint of chest pain radiating into her neck. The physical examination was significant for the distinctive facial features of wide spaced eyes and V-shaped uvula. Thoracic CT scan revealed a type I aortic dissection which warranted immediate surgical repair. On post-op day one she was noted to be confused and was found to have acute bilateral lower extremity paraparesis with proximal predominance. Furthermore, her left radial artery line had no pulse waves and no brachial, radial, or ulnar pulses could be detected with Doppler ultrasound. Emergent head CT scan revealed bilateral postcentral gyri infarctions and the thoracic CT scan demonstrated extension of the dissection into the aortic branches, including the left brachial and the bilateral carotid arteries. Consequently, surgical brachial artery repair ensued. In the interim, a repeated head CT scan demonstrated new ischemic infarcts involving the bilateral frontal lobes. Anticoagulation was not indicated due to the high risk of bleeding at surgical site. Genetic testing confirmed the presence of a mutation in the TGFBR2 gene at exon 5. Loeys-Dietz syndrome is an autosomal dominant disease caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-β (TGF-β) receptor. Loeys-Dietz syndrome manifests with aggressive vascular pathology. This case underscores the importance of recognition of this spectrum of clinical and pathologic manifestations to identify and manage Loeys-Dietz syndrome.