Malignant hyperthermia (MH), characterized by severe myoclonus, pyrexia, tachycardia, hypertension, elevated muscle enzymes, and hypercapnia, often occurs in patients with congenital deformities or genetic disorders. Although the reported incidence rate is as low as 1:5000 to 1:100,000, patients with MH exhibit rapid aggravation and an elevated mortality rate. Thus, MH is associated with substantial perioperative risk. Successful treatment of patients with MH largely depends on early diagnosis and timely effective treatment. This clinical report provides a detailed description of a patient with newly diagnosed MH who developed a rapid rise in body temperature, end-tidal carbon dioxide, and heart rate during maxillary osteotomy. After successful rescue, the patient recovered smoothly during the postoperative period, indicating the importance of intraoperative monitoring, early diagnosis, effective treatment, and postoperative monitoring. This case is expected to serve as a reference for future interventions and healthcare practices in managing other patients with MH.
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http://dx.doi.org/10.1177/03000605241261962 | DOI Listing |
Clin Case Rep
January 2025
Craig R Dufresne Fairfax Virginia USA.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
View Article and Find Full Text PDFJ Acad Consult Liaison Psychiatry
January 2025
Department of Psychiatry and Behavioral Neurosciences, University of South Florida, Tampa, FL, USA, 33613; Department of Psychiatry, University of Florida College of Medicine, Gainesville, FL, 32608.
Background: Neuroleptic malignant syndrome (NMS) is a rare yet potentially fatal iatrogenic syndrome that can manifest with life-threatening symptoms. Theorized to be caused by the dopamine-blocking effects of certain medications, such as antipsychotics, or the withdrawal of dopaminergic agents, NMS is characterized by hyperthermia, autonomic instability, altered mental status, and muscular rigidity. Most treated cases resolve within weeks; however, in some cases, residual catatonic symptoms can persist for months after the resolution of acute hyperthermic and hypermetabolic symptoms.
View Article and Find Full Text PDFCatatonia is one of the most severe psychiatric syndromes, and clinical symptoms and etiology are very heterogeneous. When accompanied by autonomic instability and hyperthermia it’s termed malignant catatonia, which left untreated is associated with significant morbidity and mortality. First-line treatment is high dose benzodiazepines, followed by electroconvulsive therapy (ECT), in case of non-response.
View Article and Find Full Text PDFAnn Gen Psychiatry
January 2025
Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.
Background: Foreign language syndrome is a rare neuropsychiatric phenomenon typically following general anesthesia. To date, foreign language syndrome has not been associated with neuroleptic malignant syndrome (NMS) in the literature. This case aims to broaden the clinical understanding of NMS by presenting an atypical manifestation of foreign language syndrome and emphasizing the need for prompt recognition of such presentations for accurate diagnosis and management.
View Article and Find Full Text PDFPharmacogenet Genomics
February 2025
Department of Anesthesiology, Vanderbilt University Medical Center.
Objectives: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype.
Methods: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data available in our biobank. We classified all variants in the cohort using a Bayesian framework of the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines for variant classification and updated the posterior probabilities from this model with the new information from our biobank cohort.
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