{"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 , Zahin Shahriar MBBS , Afia Zahin MBBS , Zareen Tabassum MBBS , Afefa khanam Mohona MBBS , 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 , Zahin Shahriar MBBS , Afia Zahin MBBS , Zareen Tabassum MBBS , Afefa khanam Mohona MBBS , 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}
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.
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.