Etomidate is commonly used for procedural sedation in the emergency department due to its rapid onset, short duration of action, and favorable hemodynamic profile. Adverse effects are generally limited to pain at the injection site, myoclonus, nausea, and transient adrenal suppression. Paradoxical agitation following etomidate administration is rarely described. We report a case of severe, transient agitation following low-dose etomidate used for procedural sedation to facilitate electrical cardioversion in a healthy young adult presenting with new-onset atrial fibrillation.

Although Lansoprazole, a proton pump inhibitor, is quite safe, there have been occasional reports of associated neurological dysfunction. We present a middle-aged man who developed bilateral asterixis within few hours of the first dose of lansoprazole. Interestingly, the jerks disappeared rapidly after discontinuation of lansoprazole.

Epileptic encephalopathies are characterized by altered mental status, primarily driven by aggressive and abnormal epileptiform activities in the brain. These conditions often present with intractable seizures associated with progressive neurocognitive decline or stagnation. Mutations in the KCNQ2 gene represent one of the most common genetic causes of neonatal epileptic encephalopathies. This case report describes a rare presentation of a KCNQ2 gain-of-function mutation associated with respiratory dysfunction and non-epileptic myoclonus. This case report describes a rare presentation of a KCNQ2 gain-of-function mutation associated with respiratory dysfunction and non-epileptic myoclonus, with the patient exhibiting an uncommon phenotype of central hypopnea and non-epileptic, stimulus-sensitive myoclonus.

A 70-year-old woman presented with slowly progressive mobility difficulty and involuntary jerking movements, which had started at age 55 years. On examination, she had generalised action-induced myoclonus and gait ataxia. Extensive investigation over 10 years had not given a diagnosis. Genetic testing was re-visited and she was found to carry a likely pathogenic variant and a variant of unknown significance in the neuraminidase gene. Dermal fibroblast culture identified significantly reduced neuraminidase activity in keeping with a diagnosis of late-onset sialidosis. Taking into account biochemical evidence and the clinical phenotype, the identified variants have been reclassified as pathogenic and likely pathogenic. This case shows the value in revisiting genetic testing in unresolved cases and the need to be aware of the presentation of inherited rare metabolic disorders in later life.