Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Acute Cerebellar Infarct in A Patient with Undiagnosed Fahr Syndrome: A Case Report.
Clin Pract Cases Emerg Med
November 2024
University of Louisville Health, Louisville, Kentucky.
Introduction: Fahr disease and Fahr syndrome represent clinical entities that result in diffuse intracranial brain calcification, either by way of genetic mutation in the case of the former or by secondary endocrine dysfunction in the latter.
Case Report: We present a case of a middle-aged male with undiagnosed Fahr syndrome, identified during evaluation for symptoms of an acute posterior circulation cerebrovascular accident.
Conclusion: Fahr syndrome is a clinical constellation of symptoms and radiographic findings often seen in late-stage hypoparathyroidism.
Epileptic seizure as the prominent symptom in Fahr syndrome, case report and literature review.
Seizure
December 2024
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China; Beijing Key Laboratory of Neuromodulation, Capital Medical University, Beijing, China; Center of Epilepsy, Beijing Institute for Brain Disorders, Capital Medical University, Ministry of Science and Technology, Beijing, China; Institute of sleep and consciousness disorders, Beijing Institute of Brain Disorders, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China; Hebei Hospital of Xuanwu Hospital, Capital Medical University, Shijiazhuang, China; Neuromedical Technology Innovation Center of Hebei Province, Shijiazhuang, China. Electronic address:
Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
Int J Mol Sci
October 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
View Article and Find Full Text PDFInter- and Intrarater Agreement of CT Brain Calcification Scoring in Primary Familial Brain Calcification.
AJNR Am J Neuroradiol
December 2024
Department of Radiology (W.P.T.M.M., M.J.C.B., S.V.d.L., D.R.R., S.M.U.V. P.A.d.J.), University Medical Center Utrecht, Utrecht, the Netherlands.
Background And Purpose: The total calcification score (TCS) is a visual rating scale to measure primary familial brain calcification (PFBC)-related calcification severity on CT. We investigated the inter- and intrarater agreement of a modified TCS.
Materials And Methods: Patients aged ≥18 years with PFBC or Fahr syndrome who visited the outpatient clinic of a Dutch academic hospital were included.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!