A large-white pig that had not been genetically selected to develop malignant hyperthermia (MH) during anesthesia nevertheless suffered an episode of severe MH after repeated exposure to increasing concentrations of desflurane. MH is a hypermetabolic alteration that may develop in susceptible patients who have inhaled certain drugs or agents that act as triggers. Early identification and appropriate treatment are essential to reduce the likelihood of death associated with this severe alteration. We report a case of late-developing MH triggered by low concentrations of inhaled desflurane.
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Congenital disorders of glycosylation are rare and present a challenge in management due to interactions with intraoperative medications. We present safe and successful anesthetic management of a pediatric patient with an ALG-13 gene mutation.
View Article and Find Full Text PDFAnesthesiology
February 2025
The North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States, Sherburne, New York (M.G.L.).
A A Pract
January 2025
From the Department of Anesthesiology, New York Presbyterian Hospital, Weill Cornell Medical Center, New York, NY.
Malignant hyperthermia (MH) is a rare genetic disorder triggered by inhalational anesthetics or depolarizing neuromuscular blocking agents that carries significant mortality if not promptly treated. The following case presents a healthy 39-year-old man who developed MH several hours into an anesthetic exposure. Rapid intraoperative stabilization tactics that paralleled intensive care unit (ICU) level care allowed for continuation of operative management as opposed to case termination given the patient was at high risk for permanent nerve palsy if the case were to be aborted during dissection.
View Article and Find Full Text PDFClin 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.
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