RESIDENT: A Rare Case of Malignant Catatonia in a Patient with 16p11.2 Microduplication (UofC)
Presenting Author(s): Dr. Omid JavizianCo-Author(s): Dr. Rita Watterson
Date and time: 22 Mar 2025 from 14:45 to 15:00
Location: Hawthorn C
Abstract
Background
Catatonia is a complex neuropsychiatric disorder characterized by motor, affective, and complex-behaviour abnormalities associated with excess morbidity. Malignant catatonia may be conceptualized on the continuum of catatonia, at the end of the spectrum, associated with more pronounced motor and neurovegetative symptoms as well as life-threatening autonomic instability. Malignant catatonia is associated with a 50% mortality rate if not treated promptly. The 16p11.2 microduplication, a rare genetic copy number variant is associated with variable clinical features including, neurodevelopmental, schizophrenia, and seizure disorders as well as physical characteristics. Review of the literature found one individual with this microduplication specifically noted to have catatonia.
Case Presentation
We describe a case of a 52-year-old Chinese female with a longstanding history of schizophrenia and numerous previous episodes of catatonia who developed malignant catatonia in the context of a lorazepam taper. Laboratory investigations ruled out organic or infectious causes. Genetic testing revealed a 16p11.2 microduplication. Treatment with lorazepam and electroconvulsive therapy resulted in resolution of catatonic symptoms over several weeks.
Discussion
We aim to add to the body of literature covering treatment recommendations in malignant catatonia, which consist of case-series and case-reports in the absence of randomized-controlled trials. We provide the first case-report highlighting the treatment of malignant catatonia in an individual with 16p11.2 microduplication. The identification of this genetic variant may provide further insights into the pathophysiology of catatonia and schizophrenia through shared biological mechanism(s). Further research into rare genetic variants may aid in identifying neuropsychiatric vulnerability and improve outcomes in complex clinical scenarios.
Learning Objectives
1. What is catatonia/malignant catatonia;
2. Differential etiological considerations for catatonia/malignant catatonia;
3. Approach to treatment for catatonia/malignant catatonia; and
4. Brief overview of medical genetics and increasing use in psychiatry.
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