Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Review of Literature

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is considered a common cause of hereditary stroke caused by mutation of the NOTCH3 gene. Evidence against the use of intravenous tissue plasminogen activator (IV tPA) has been suggested due to possibility of hemorrhage. We present a case of a patient with CADASIL who was successfully treated using IV tPA.

Methods: A case description of a female patient who presented with stroke-like symptoms was a previously known case of CADASIL. Review of literature was done using search terms such as CADASIL, NOTCH3, and intracranial hemorrhage or brain hemorrhage.

Results: A 35-year-old female patient presented to the emergency department with acute onset hemiparesis, hemiparesthesia, and motor aphasia with a National Institutes of Health Stroke Scale score of 8. The patient was a previously diagnosed case of CADASIL with a positive NOTCH3 mutation. Computed tomography scan showed no large vessel occlusion with no perfusion deficient. Patient was within window for IV tPA treatment which was administered, and she subsequently had marked improvement of all symptoms.

Conclusion: There is slight evidence against the use of IV tPA for CADASIL patients who present with stroke-like symptoms but nothing is concrete. It has also been suggested that some patients who are undiagnosed have been treated with IV tPA with favorable results but unfortunately are not reported. Further studies and or large clinical trials could be beneficial for those patients who may benefit from IV tPA and who have previously been diagnosed with CADASIL.

Keywords: CADASIL; Stroke; complications; genetic; tPA.