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不仅仅是腔隙性梗死和白质脑病:伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)中的出血性卒中

More than lacunes and leukoencephalopathy: A hemorrhagic stroke in CADASIL.

作者信息

Jabbari Chaimaa, Laridi Aya, Laasri Ihssane, Bennasser Abdallah, Ait Belhaj ElMahdi, Farouki Ayman El, El Fenni Jamal

机构信息

Department of Radiology, Mohammed V Military Instruction Hospital, Faculty of Medicine and Pharmacy of Rabat, Mohammed V University, Rabat, Morocco.

出版信息

Radiol Case Rep. 2025 Jul 9;20(9):4873-4876. doi: 10.1016/j.radcr.2025.06.037. eCollection 2025 Sep.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene. Its clinical presentation includes recurrent lacunar infarcts, transient ischemic attacks, cognitive decline, migraine, and psychiatric disorders. Neuroimaging typically reveals white matter changes, particularly in the basal ganglia, external capsules, and anterior temporal lobes. While CADASIL is primarily associated with ischemic events, hemorrhagic manifestations are rare. We present a case of a CADASIL patient who presented with left-sided hemiparesis. Imaging revealed a right paracentral intracerebral hemorrhage, an atypical finding in CADASIL. This case highlights the potential for hemorrhagic complications in CADASIL and emphasizes the importance of recognizing these rare presentations in clinical practice.

摘要

伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)是一种由NOTCH3基因突变引起的遗传性小血管疾病。其临床表现包括反复发作的腔隙性梗死、短暂性脑缺血发作、认知功能下降、偏头痛和精神障碍。神经影像学检查通常显示白质改变,尤其是在基底节、外囊和颞叶前部。虽然CADASIL主要与缺血性事件相关,但出血性表现很少见。我们报告一例CADASIL患者,该患者表现为左侧偏瘫。影像学检查发现右侧脑中央旁脑出血,这在CADASIL中是一个非典型表现。该病例突出了CADASIL出血性并发症的可能性,并强调了在临床实践中认识这些罕见表现的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5571/12274750/c92d19e3b530/gr1.jpg

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