Khan Muhammad Taimoor, Murray Ann, Smith Matthew
Department of Neurology, West Virginia University, Morgantown, West Virginia.
Department of Neurology, West Virginia University, Morgantown, West Virginia.
J Stroke Cerebrovasc Dis. 2016 Apr;25(4):e53-7. doi: 10.1016/j.jstrokecerebrovasdis.2015.12.006. Epub 2016 Feb 5.
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.
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.
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.
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.
伴有皮质下梗死和白质脑病的大脑常染色体显性动脉病(CADASIL)被认为是由NOTCH3基因突变引起的遗传性中风的常见病因。由于存在出血可能性,有人提出反对使用静脉注射组织型纤溶酶原激活剂(IV tPA)。我们报告一例使用IV tPA成功治疗的CADASIL患者。
对一名出现中风样症状的女性患者进行病例描述,该患者既往已知患有CADASIL。使用CADASIL、NOTCH3以及颅内出血或脑出血等检索词进行文献回顾。
一名35岁女性患者因急性发作的偏瘫、偏身感觉障碍和运动性失语就诊于急诊科,美国国立卫生研究院卒中量表评分为8分。该患者既往诊断为CADASIL,NOTCH3基因突变阳性。计算机断层扫描显示无大血管闭塞且无灌注不足。患者处于IV tPA治疗时间窗内,接受了治疗,随后所有症状均有明显改善。
有少量证据反对对出现中风样症状的CADASIL患者使用IV tPA,但尚无确凿证据。也有人提出,一些未确诊的患者接受IV tPA治疗后效果良好,但遗憾的是未被报道。进一步的研究和/或大型临床试验可能对那些可能从IV tPA中获益且先前已被诊断为CADASIL的患者有益。