AI Article Synopsis
- Familial hemiplegic migraine (FHM) is a rare migraine variant that can be difficult to diagnose due to its diverse symptoms and lack of biological markers.
- The case of a 24-year-old male with recurrent episodes and a family history of similar symptoms highlights the importance of recognizing FHM in emergency settings.
- Accurate diagnosis requires understanding FHM’s clinical features, obtaining thorough family history, and considering it in the differential diagnosis for patients presenting with headache and weakness.
Article Abstract
Background: Familial hemiplegic migraine (FHM) is a rare type of migraine. Correct diagnosis is challenging for emergency physicians (EPs) due to its variable clinical picture, as well as its lack of diagnostic biological markers.
Objectives: To raise awareness among EPs regarding FHM's diverse clinical picture, and to highlight FHM's diagnostic criteria to facilitate an accurate and timely diagnosis of FHM in patients presenting to the emergency department (ED) with indicative symptomatology.
Case Report: A 24-year-old male student presented to the ED complaining of dizziness, general weakness, and blurred vision that had developed the previous night. The initial physical examination revealed drowsiness, slow speech production, and slight weakness with paresthesia in all limbs. Detailed communication with the patient's aunt revealed that he had experienced several similar attacks since the age of 12 years, and that there was also an extensive family history of the same symptoms. In addition, 2 h after arrival, the patient experienced severe throbbing headache, vomiting, severe dysphasia, and the weakness shifted to the right side. A computed tomography scan of the brain showed no anomalies. He was admitted with a tentative diagnosis of FHM.
Conclusion: A diagnosis of FHM should be considered if the patient's clinical features include headache and weakness, with a family history of similar symptomatology. However, atypical symptoms of FHM may present as recurrent episodes of unexplained encephalopathy. Crucial elements for making an accurate and timely diagnosis of FHM include a detailed knowledge of weakness-related diseases and an ability to consider FHM in the differential diagnosis, as well as obtaining a thorough family history with repeated neurologic assessments.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jemermed.2009.07.032 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating Founder Variant Carriers.
Circ Genom Precis Med
December 2024
Department of Cardiology (M.J., L.P.B., A.F.S., D.v.d.S., A.S.J.M.t.R.), University Medical Center Utrecht, Utrecht University, the Netherlands.
Background: founder variants cause hypertrophic cardiomyopathy leading to heart failure and malignant ventricular arrhythmias. Exercise is typically regarded as a risk factor for disease expression although evidence is conflicting. Stratifying by type of exercise may discriminate low- from high-risk activities in these patients.
View Article and Find Full Text PDFA structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Ca2.1 P/Q-type channel gating.
Mol Brain
November 2024
Michael Smith Laboratories, University of British Columbia, 2185 East Mall, Vancouver, BC, V6T 1Z4, Canada.
P/Q-type (Ca2.1) calcium channels mediate Ca influx essential for neuronal excitability and synaptic transmission. The CACNA1A gene, encoding the Ca2.
View Article and Find Full Text PDFCT/MRI LI-RADS 2024 Update: Treatment Response Assessment.
Radiology
November 2024
From the Department of Radiology, University of Michigan Health System, 1500 E Medical Center Dr, Ann Arbor, MI 48109-5030 (A.A., M.M.L.); Department of Radiology, Memorial Sloan Kettering Medical Center, New York, NY (V.C., R.D., H.Y.); Department of Radiology, Northwestern Medical Center, Chicago, Ill (F.H.M., R.J.L.); Department of Radiology, Duke University Medical Center, Durham, NC (M.B.); Department of Radiology, University of California San Diego, San Diego, Calif (C.S., C.Y.K.); Department of Radiology, University of Toronto, Toronto, Ontario, Canada (A.Z.K.); Department of Radiology, Massachusetts General Hospital, Boston, Mass (A.R.K., A.S.B.); Department of Radiology, Mount Sinai Medical Center, New York, NY (E.K.); Department of Radiology, Mayo Clinic Rochester, Rochester, Minn (D.O.); Department of Radiology, Weill Cornell Medical Center, New York, NY (R.A.C.); and Department of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, NC (L.M.B.).
With the rising incidence of hepatocellular carcinoma, there has been increasing use of local-regional therapy (LRT) to downstage or bridge to transplant, for definitive treatment, and for palliation. The CT/MRI Liver Imaging Reporting and Data System (LI-RADS) Treatment Response Assessment (TRA) algorithm provides guidance for step-by-step tumor assessment after LRT and standardized reporting. Current evidence suggests that the algorithm performs well in the assessment of tumor response to arterial embolic and loco-ablative therapies and fair when assessing response to radiation-based therapies, with limited data to validate the latter.
View Article and Find Full Text PDFDiagnostic Accuracy of CT for the Detection of Hepatic Steatosis: A Systematic Review and Meta-Analysis.
Radiology
November 2024
From the Department of Radiology, Northwestern University Feinberg School of Medicine, 676 N St. Clair St, Arkes Family Pavilion, Ste 800, Chicago, IL 60611 (M.H., D.A., S.T., F.H.M., A.A.B.); and Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tenn (A.D.S.).
Background CT plays an important role in the opportunistic identification of hepatic steatosis. CT performance for steatosis detection has been inconsistent across various studies, and no clear guidelines on optimum thresholds have been established. Purpose To conduct a systematic review and meta-analysis to assess CT diagnostic accuracy in hepatic steatosis detection and to determine reliable cutoffs for the commonly mentioned measures in the literature.
View Article and Find Full Text PDFExploring the diagnostic and immune infiltration roles of disulfidptosis related genes in pulmonary hypertension.
Respir Res
October 2024
Department of Cardiovascular Disease, the First Affiliated Hospital of Bengbu Medical University, Bengbu, 233000, China.
Article Synopsis
- Pulmonary hypertension (PH) is associated with increased pressures in the pulmonary arteries, affecting heart function, and this study investigates the role of disulfidptosis-related cell death genes (DiGs) in PH.
- Using machine learning techniques, researchers identified key DiGs linked to PH and found that the XGB model was the most accurate diagnostic tool, achieving an AUC of 0.958.
- The study also constructed a CeRNA network involving the identified genes and predicted that drugs like folic acid could be effective treatments, supported by both computational and experimental validation.
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!