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1型沃夫勒姆综合征以颅内出血和纵向广泛横贯性脊髓炎为表现的新病例:神经影像学和血管造影结果

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.

作者信息

Singh Ravi P, Jayanth S S, Seetam K T, Holla Vikram V, Arvinda H R, Netravathi M

机构信息

Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.

Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2025 Mar 1;28(2):264-267. doi: 10.4103/aian.aian_613_24. Epub 2024 Dec 4.

Abstract

Wolfram syndrome (WS), a rare genetic neurodegenerative condition, is primarily characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss, along with diverse systemic manifestations. Late-stage cases exhibit widespread brain atrophy. While bleeding tendencies are not commonly observed in Type 2 WS (WS2), there is a distinctive bleeding tendency that is exclusive to WS2, with no documented occurrences in Type 1 WS (WS1). Extensive documentation exists regarding various neurologic manifestations of this syndrome; however, as of now, there is no reported mention of intracranial hemorrhage, a rarity within this condition.

摘要

沃夫勒姆综合征(WS)是一种罕见的遗传性神经退行性疾病,主要特征为糖尿病、视神经萎缩、尿崩症和感音神经性听力损失,以及多种全身表现。晚期病例会出现广泛的脑萎缩。虽然2型沃夫勒姆综合征(WS2)通常没有出血倾向,但WS2有一种独特的出血倾向,1型沃夫勒姆综合征(WS1)中没有相关记录。关于该综合征的各种神经学表现已有大量文献记载;然而,截至目前,尚无关于颅内出血的报道,这种情况在该疾病中较为罕见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dcf0/12049225/405aa73147a7/AIAN-28-264-g001.jpg

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