Congenital Thrombotic Thrombocytopenic Purpura Presenting as Recurrent Ischemic Stroke in a Young Adult: A Genetically Confirmed Case.

Thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy that can present with neurological and renal involvement and may rarely manifest as acute ischemic stroke in young adults. We report the case of a 23-year-old male who presented with acute-onset right-sided hemiplegia and expressive aphasia, with a history of recurrent transient ischemic attacks and renal dysfunction. Laboratory evaluation revealed severe thrombocytopenia, microangiopathic hemolytic anemia with schistocytes, and markedly elevated renal parameters. Neuroimaging demonstrated an acute infarct predominantly involving the left parietal region with additional subacute infarcts, while intracranial vessels were normal. A PLASMIC (Platelet count, combined Hemolysis parameters, Absence of active cancer, no history of solid Organ or Stem cell transplant, MCV (mean corpuscular volume), INR (international normalized ratio), and Creatinine) score of 5 indicated an intermediate risk for severe ADAMTS13 deficiency. The patient was treated with high-dose corticosteroids during the acute phase along with supportive therapy. Genetic testing subsequently confirmed congenital TTP due to a homozygous ADAMTS13 mutation. This case highlights TTP as an important, though uncommon, cause of young stroke and underscores the need for early recognition to enable timely management and prevent recurrent thrombotic events.