Atypical hemolytic uremic syndrome (aHUS) is a rare disease, with scarce reports of neurologic manifestations in the acute setting. Ischemic cortical infarcts concurrently with aHUS presentation have not been described in adult patients.
A 46-year-old male presents with acutely declining mental status and progressive weakness, in the setting of longstanding hypertension and known type B aortic dissection. Urgent neuroimaging shows bilateral multifocal multiterritorial ischemic infarcts, concerning for an embolic source or hypercoagulable state. Systemic workup is notable for microangiopathic hemolytic anemia and acute kidney injury. Empiric plasmapheresis is initiated for presumed thrombotic thrombocytopenic purpura. Treatment with complement inhibitor is started and patient gradually recovers. Genetic testing confirms a pertinent pathogenic mutation, CFHR1 homozygous deletion.
Acute multifocal multiterritorial ischemic infarcts and systemic thrombotic microangiopathy may be a manifestation of aHUS, and with associated genetic mutation, even in adult population. Read the full article here.