Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.
Ravi P Singh, S S Jayanth, K T Seetam, Vikram V Holla, H R Arvinda, M Netravathi
{"title":"Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.","authors":"Ravi P Singh, S S Jayanth, K T Seetam, Vikram V Holla, H R Arvinda, M Netravathi","doi":"10.4103/aian.aian_613_24","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>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.</p>","PeriodicalId":8036,"journal":{"name":"Annals of Indian Academy of Neurology","volume":" ","pages":""},"PeriodicalIF":1.9000,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Indian Academy of Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/aian.aian_613_24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
