Abstract Details

Title Loeys-Dietz Syndrome and Ischemic Stroke

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 4-003

Objective To highlight Loeys-Dietz Syndrome as an under-recognized genetic cause of ischemic stroke.

Background Loeys-Dietz syndrome (LDS) is a spectrum of six autosomal dominant genetic disorders of the connective tissue, first reported in 2005, and characterized by multiple arterial tortuosity, aneurysms and dissections, as well as musculoskeletal, cutaneous, gynecological and craniofacial manifestations. LDS is caused by mutations in TGFβ signaling pathway-related genes.

Design/Methods A 48-year-old caucasian woman with history of intractable headaches, “popping sound” in her neck, and asthma presented with acute right hand numbness. Except for hand numbness, her neurological physical examination was otherwise unremarkable. Magnetic resonance imaging of brain showed an acute left middle cerebral-posterior cerebral artery borderzone punctate infarct. Cervical and intracranial vessel imaging revealed a large left cervical internal carotid artery (ICA) and bilateral vertebral pseudoaneurysms. She underwent stenting of the left ICA pseudoaneurysm.
Additional data gathering revealed she had a history of multiple right shoulder dislocations, mitral valve prolapse, and right hip instability. She had undergone several corrective spinal surgeries for kyphosis, removal of an arachnoid cyst, and a ventral hernia repair. The patient developed exertional chest pain few months later, and cardiac catheterization for that showed coronary artery vasospasm of unclear etiology. Based on the patient’s multisystemic involvement, a connective tissue disorder was suspected. After negative genetic testing for Marfan and Ehler-Danlos syndromes, Loeys-Dietz Syndrome (LDS) was suspected and genetic testing was performed.

Results A heterozygous pathologic variant of transforming growth factor β 2 ligand (TGFB2) was detected, which is associated with LDS Type 4.

Conclusions We report a case of LDS Type 4 with cervical arterial pseudoaneurysms and ischemic stroke. In stroke patients with cervical arterial tortuosity/pseudoaneurysm and/or recurrent dissections, genetic testing for LDS must be performed in addition to Marfan and Ehler-Danlos syndromes.

Authors/Disclosures
Michael Nahhas, MD (UTHealth Neurosciences Houston - Texas Medical Center) PRESENTER	Dr. Nahhas has nothing to disclose.
Disha Kohli, MD, MBBS (MUSC Neurology)	Dr. Kohli has nothing to disclose.
Chirantan Banerjee, MD, MPH (Medical University of South Carolina)	Dr. Banerjee has nothing to disclose.

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Abstract Details