Dyskinesia hyperpyrexia syndrome is a rare medical emergency in Parkinson's disease. It is characterized by continuous dyskinesia associated with hyperthermia, rhabdomyolysis, and alteration of the mental state. We present the case of a 74-year-old woman who presented with recurrent dyskinesia hyperpyrexia syndrome. Although some provocation factors and clinical manifestations seem to be shared with parkinsonism hyperpyrexia syndrome, a clear distinction in management should be considered.
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http://dx.doi.org/10.14802/jmd.17022 | DOI Listing |
J Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
View Article and Find Full Text PDFJ Feline Med Surg
January 2025
Department of Veterinary Medical Science, University of Bologna, Ozzano dell'Emilia, Italy.
Objectives: The aim of the study was to evaluate the association between triage body temperature (BT) and outcome in cats presenting to the emergency department (ED).
Methods: A retrospective observational study was conducted on cats presented to the ED. BT, clinical diagnosis and outcome were recorded.
Auton Neurosci
February 2025
Department of Medicine, Jinnah Sindh Medical University, Rafiqi H J Shaheed Road, Karachi, Pakistan. Electronic address:
Paroxysmal Sympathetic Hyperactivity (PSH) is a challenging and often underrecognized syndrome, commonly arising after a traumatic brain injury (TBI). Characterized by episodic bursts of heightened sympathetic activity, PSH presents with a distinct constellation of symptoms including hypertension, tachycardia, hyperthermia, and diaphoresis. While the exact pathophysiology remains elusive, current evidence suggests that the syndrome results from an imbalance between excitatory and inhibitory neuronal pathways within the central nervous system, leading to dysregulated autonomic responses.
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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