A 47-Year-Old Man with Recurrent Unilateral Head and Neck Pain

This Case Records report details a 47-year-old man presenting with recurrent left-sided head and neck pain, linked to previous cerebellar and medullary infarcts. Over time, imaging revealed arterial dissections in the left vertebral and right renal arteries, along with a pseudoaneurysm and renal infarction. The patient's symptoms, joint history, and imaging findings prompted evaluation for connective tissue disorders. Genetic testing confirmed vascular Ehlers-Danlos syndrome (vEDS), caused by a COL3A1 nonsense mutation leading to truncated type III procollagen. Management included aggressive blood pressure control, imaging surveillance, and lifestyle modifications to reduce vascular risk. Family screening revealed similarly affected relatives, emphasizing the importance of early recognition and genetic counseling in vEDS.

This Case Records report details a 47-year-old man presenting with recurrent left-sided head and neck pain, linked to previous cerebellar and medullary infarcts. Over time, imaging revealed arterial dissections in the left vertebral and right renal arteries, along with a pseudoaneurysm and renal infarction. The patient's symptoms, joint history, and imaging findings prompted evaluation for connective tissue disorders. Genetic testing confirmed vascular Ehlers-Danlos syndrome (vEDS), caused by a COL3A1 nonsense mutation leading to truncated type III procollagen. Management included aggressive blood pressure control, imaging surveillance, and lifestyle modifications to reduce vascular risk. Family screening revealed similarly affected relatives, emphasizing the importance of early recognition and genetic counseling in vEDS.