Case Reports
KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation
Authors:
- Bennett Lavenstein
- Patrick McGurrin
- Sanaz Attaripour
- Felipe Vial
- Mark HallettEmail Mark Hallett
Abstract
Background: Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation.
Case Report: A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstrated muscle activity indicative of myoclonus dystonia, an observation that was not appreciated clinically. Genetic testing revealed an abnormality in the KCNN 2 gene, not present in the parents, known to cause dystonia, as the etiology.
Discussion: The value of utilizing noninvasive, electrophysiological recording in pediatric movement disorders expands the precision of diagnosis, potentially informing treatment when correlated with clinical and genetic findings.
Keywords:
- Year: 2022
- Volume: 12
- Page/Article: 2
- DOI: 10.5334/tohm.668
- Submitted on 4 Oct 2021
- Accepted on 13 Jan 2022
- Published on 24 Jan 2022
- Peer Reviewed