Case report: a case of paroxysmal nocturnal hemoglobinuria with ischemic stroke as the first symptom

Abstract

Abstract Background Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and acquired hemolytic disease caused by mutations in hematopoietic stem cell genes. The illness encompasses a cascade of clinical presentations marked by intravascular hemolysis, potential hematopoietic failure and thrombophilia. Here, we introduce a case of PNH in which ischemic stroke was the initial and noticeable complaint. Case presentation A 78-year-old female presented to our hospital with sudden headache, right visual field defect, and right upper limb weakness. The blood routine suggested pancytopenia. The coagulation function test showed elevated D-dimer. Brain magnetic resonance imaging (MRI) suggested hemorrhagic cerebral infarction in her left temporal parietal occipital lobe. Brain magnetic resonance venography (MRV) suggested right transverse sinus and superior sagittal sinus occlusion. Lumbar puncture showed intracranial pressure 200 mmH2O, while the cerebrospinal fluid presented normal cell counts, negative next-generation sequencing and relevant antibodies of autoimmune encephalitis. The patient relieved after receiving therapy for reducing intracranial pressure and stabilizing plaques. Incredibly, during the next 2 years, the patient suffered repeatedly fever, multi-site thrombosis, intestinal mucosal lesions and pancytopenia and she had 2 episodes of obscure dark tea urine. Peripheral blood high sensitivity detection of PNH clones showed positive results. Intravenous methylprednisolone and subcutaneous injection of low molecular weight heparin followed by rivaroxaban and methylprednisolone tablets were administered to the patient. Her physical condition reached basic stability without having a relapse during the 1-year follow-up. Conclusions PNH is a rare cause of ischemic stroke. The case is characterized by atypical initial symptoms, diverse clinical features and a prolonged course, which emphasizes the challenges of providing the detailed medical history and integrating the overall situation to make differential diagnosis.