CASE REPORT article
Front. Psychiatry
Sec. Adolescent and Young Adult Psychiatry
Volume 16 - 2025 | doi: 10.3389/fpsyt.2025.1657837
Treatment-Refractory Catatonia in an Adolescent with a de novo SIK1 Candidate Variant: A Case Report of a Multidisciplinary Diagnostic Odyssey
Provisionally accepted
- 1Keck School of Medicine, University of Southern California, Los Angeles, United States
- 2Children's Hospital Los Angeles, Los Angeles, United States
- 3University of California Irvine, Irvine, United States
- 4University of Southern California Keck School of Medicine, Los Angeles, United States
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We report the case of an adolescent patient who developed severe, treatment-refractory catatonia with progressive neurological decline over five years following a brief, self-limited acute psychotic episode following a prodromal period emerging at age 11 with disorganized behavior and restricted, stereotyped interests. Her atypical presentation marked by prolonged mutism, function loss, and retrograde amnesia, unresponsive to standard therapies, showed dramatic improvement with a combination of memantine, oxcarbazepine, and electroconvulsive therapy (ECT). Trio-clinical exome sequencing revealed a de novo likely pathogenic variant in the SIK1 gene, highlighting the utility of genomic diagnostics in complex neuropsychiatric presentations and emphasizing the ongoing need for multidisciplinary collaboration and advocacy in patient care.
Keywords: Catatonia, Treatment-refractory, Electroconvulsive therapy (ECT), genetic work-up, SIK1 Candidate Variant, case report
Received: 01 Jul 2025; Accepted: 29 Aug 2025.
Copyright: © 2025 Hodara, Seegan, Ji and Van Speybroeck. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Emmanuelle Hodara, Keck School of Medicine, University of Southern California, Los Angeles, United States
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