(Kiosk 3) Basal Ganglia Hemorrhage in a Patient with Upshaw-schulman Syndrome: A Case Report

Case Diagnosis: A 27 year-old female patient with end-stage renal disease (ESRD) secondary to Upshaw–Schulman syndrome presenting with basal ganglia hemorrhage.

Case Description or Program Description: The patient presented to the Emergency Department (ED) with a severe, throbbing headache with photophobia and phonophobia. The patient's blood pressure in the ED was 250/155. The patient denied any blurred vision, slurred speech, or extremity weakness or numbness in the ED. The patient had a history of ESRD and Upshaw-Schulman syndrome, which is the recessively inherited form of thrombotic thrombocytopenic purpura (TTP), a rare and severe disease. TTP is associated with the pentad of microangiopathic hemolytic anemia, thrombocytopenia, neurological symptoms, renal insufficiency, and fever. CT imaging revealed right basal ganglia hemorrhage with local mass-effect, and the patient was admitted for medical management. The neurology team’s impression was that the patient’s hypertensive crisis led to her hemorrhagic stroke. After a 2-week hospital stay, the patient was discharged home.

Setting: Tertiary care hospital.

Assessment/Results: Upon discharge, the patient’s blood pressure was controlled and her neurological deficits were stable, although she continued to have left-sided hemiparesis.

Discussion (relevance): It has previously been reported in the literature that TTP can cause ischemic stroke and, less commonly, hemorrhagic stroke. To our knowledge, this is the first case reported of a patient with Upshaw-Schulman syndrome who developed a basal ganglia hemorrhage secondary to hypertensive crisis. Basal ganglia hemorrhage is a potentially life-threatening complication, and neurological rehabilitation requires a comprehensive and coordinated approach often involving physical, speech, and occupational therapy. In addition, patients with Upshaw-Shulman syndrome may face unique challenges during neurological rehabilitation, as they often suffer from weakness, shortness of breath, and confusion.

Conclusions: Patients with Upshaw-Schulman syndrome, a recessive form of TTP, potentially have an increased risk of basal ganglia hemorrhage, especially in the setting of ESRD and hypertensive crisis.