血栓症と循環のジャーナル: オープンアクセス

概要

A Young Male with Neurological Deficits: Diagnosis of Paroxysmal Nocturnal Hemoglobinuria

Tushar Menon, Ameera C Mistry, Ryan Mcauliffe, Shahin Bhagwagar

Paroxysmal Nocturnal Hemoglobinuria is a rare acquired disorder of the blood, characterized by the destruction of red blood cells, blood clots, and impaired bone marrow function. The resulting symptoms of PNH can vary widely, but may include fatigue, weakness, shortness of breath, abdominal pain, and an increased risk of both venous and arterial thrombosis, as well as other serious complications. The diagnosis of PNH is made through laboratory testing, including flow cytometry and genetic testing. Although there is no cure for PNH, proper diagnosis and treatment can help manage symptoms and improve quality of life for those living with the disease. Discussed here is a case of a 22 year-old male with PNH that presented with an arterial stroke and symptoms of acute right-sided hemiparesis. A Computed Tomography angiography of head and neck showed an occlusion of the left middle cerebral artery at the M1 segment. Anticoagulant therapies was initiated and following MRI and CT scan confirmed the obstruction; while a hypercoagulable work-up came back positive for a PNH diagnosis. Treatment with eculizumab and a meningococcal vaccination was administered. The patient regained motor function with physical and occupational therapy.