Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E

Tremor and Other Hyperkinetic Movements

article

Cliona Buckley¹  Jennifer Williams¹  Tudor Munteanu¹  Mary King²  Su Mi Park³  Andrea L. Meredith³  Timothy Lynch¹ 

[1] Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital;Temple Street Children’s University Hospital, University College Dublin;Department of Physiology, University of Maryland School of Medicine;Department of Health Affairs, University College Dublin

关键词: Movement disorders;    Genetics;    Dystonia;    Neurological Emergency;    Seizure;    Dyskinesia;    PNKD3;    BK channel;    K Ca 1.1;    calcium-activated potassium channel;   

DOI  :  10.5334/tohm.549

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, writhing of arms, oculogyric crisis and visual and auditory hallucinations. She developed respiratory failure and was ventilated. No cause was found so whole exome sequencing was performed and this revealed a novel, non-synonymous heterozygous variant in exon 11 of the KCNMA1 gene, K457E (c 1369A>G) in the patient but not her parents. This variant has not been previously reported in gnomAD or ClinVar. The finding of a de novo variant in a potassium channel gene guided a trial of the potassium channel antagonist 3,4 diaminopyridine resulting in significant improvement, discharge from the intensive care unit and ultimately home.

【 授权许可】

CC BY