一名 16 岁男性早发型法尔氏病,伴有低血糖和头痛的非典型表现及致命结局:病例报告

Q4 Medicine Radiology Case Reports Pub Date : 2024-10-25 DOI:10.1016/j.radcr.2024.10.008
Deluwar Hussen MBBS , Zahin Shahriar MBBS , Afia Zahin MBBS , Zareen Tabassum MBBS , Afefa khanam Mohona MBBS , Kajal Sarker MBBS
{"title":"一名 16 岁男性早发型法尔氏病,伴有低血糖和头痛的非典型表现及致命结局:病例报告","authors":"Deluwar Hussen MBBS ,&nbsp;Zahin Shahriar MBBS ,&nbsp;Afia Zahin MBBS ,&nbsp;Zareen Tabassum MBBS ,&nbsp;Afefa khanam Mohona MBBS ,&nbsp;Kajal Sarker MBBS","doi":"10.1016/j.radcr.2024.10.008","DOIUrl":null,"url":null,"abstract":"<div><div>Fahr's disease, also known as primary familial brain calcification, is a progressive neurological disorder that follows an autosomal dominant inheritance pattern, characterized by calcifications primarily located within the basal ganglia of the brain. This condition typically affects middle-aged individuals, who present with a combination of neurological and psychiatric symptoms; however, this case report discusses a 16-year-old male patient. The patient initially exhibited general signs of infection, including fever and jaundice, before developing specific neurological symptoms, which progressed to systemic encephalopathy characterized by altered consciousness, seizures, and hypoglycemia, necessitating his admission to the ICU. Tragically, despite receiving intensive medical treatment, the patient succumbed to the disease, highlighting the challenges associated with diagnosing and managing Fahr's disease, particularly in younger patients.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early-onset Fahr's disease with atypical presentation of hypoglycemia and headache and fatal outcome in a 16-year-old male: A case report\",\"authors\":\"Deluwar Hussen MBBS ,&nbsp;Zahin Shahriar MBBS ,&nbsp;Afia Zahin MBBS ,&nbsp;Zareen Tabassum MBBS ,&nbsp;Afefa khanam Mohona MBBS ,&nbsp;Kajal Sarker MBBS\",\"doi\":\"10.1016/j.radcr.2024.10.008\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Fahr's disease, also known as primary familial brain calcification, is a progressive neurological disorder that follows an autosomal dominant inheritance pattern, characterized by calcifications primarily located within the basal ganglia of the brain. This condition typically affects middle-aged individuals, who present with a combination of neurological and psychiatric symptoms; however, this case report discusses a 16-year-old male patient. The patient initially exhibited general signs of infection, including fever and jaundice, before developing specific neurological symptoms, which progressed to systemic encephalopathy characterized by altered consciousness, seizures, and hypoglycemia, necessitating his admission to the ICU. Tragically, despite receiving intensive medical treatment, the patient succumbed to the disease, highlighting the challenges associated with diagnosing and managing Fahr's disease, particularly in younger patients.</div></div>\",\"PeriodicalId\":53472,\"journal\":{\"name\":\"Radiology Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1930043324011142\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1930043324011142","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

法尔氏病又称原发性家族性脑钙化,是一种进行性神经系统疾病,呈常染色体显性遗传模式,其特征是钙化主要位于大脑基底节。这种疾病通常会影响中年人,他们会出现神经和精神症状,但本病例报告讨论的是一名 16 岁的男性患者。患者最初表现出感染的一般症状,包括发烧和黄疸,随后出现特定的神经系统症状,并发展为以意识改变、癫痫发作和低血糖为特征的全身性脑病,不得不住进重症监护室。不幸的是,尽管患者接受了强化治疗,但最终还是不治身亡,这凸显了诊断和治疗法尔氏病所面临的挑战,尤其是对年轻患者而言。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Early-onset Fahr's disease with atypical presentation of hypoglycemia and headache and fatal outcome in a 16-year-old male: A case report
Fahr's disease, also known as primary familial brain calcification, is a progressive neurological disorder that follows an autosomal dominant inheritance pattern, characterized by calcifications primarily located within the basal ganglia of the brain. This condition typically affects middle-aged individuals, who present with a combination of neurological and psychiatric symptoms; however, this case report discusses a 16-year-old male patient. The patient initially exhibited general signs of infection, including fever and jaundice, before developing specific neurological symptoms, which progressed to systemic encephalopathy characterized by altered consciousness, seizures, and hypoglycemia, necessitating his admission to the ICU. Tragically, despite receiving intensive medical treatment, the patient succumbed to the disease, highlighting the challenges associated with diagnosing and managing Fahr's disease, particularly in younger patients.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
期刊最新文献
Asymptomatic pulmonary cusps aneurysm in newborn Benign paratesticular inflammatory pseudotumor: A rare case report A rare case report: Pott's Puffy tumor and Lemierre's syndrome with intracranial complications in an adult male Takayasu's arteritis causing coronary stenosis with myocardial ischemia, severe aortic regurgitation, and pericarditis Unveiling the anomaly: Scimitar syndrome in a middle-aged female patient
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1