Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is characterized by sudden episodes of involuntary movements. PKD is a very rare movement disorder, and correct clinical diagnosis is often a challenge. CASE: We present the case of a 23-year-old female with PKD. The patient showed episodes of twisting movements for 3 years. The symptoms lasted for about 5–10 minutes and subsided spontaneously. She was diagnosed as having epilepsy, and depressive and anxiety disorders successively. However, her symptoms did not alleviate after taking sodium valproate and antidepressants. Though there were no mutations in her PRRT2 gene, carbamazepine was used for treatment and was effective in controlling her symptoms. CONCLUSION: The clinical features of PKD patients are not always typical; therefore, it is important to distinguish PKD from the other subtypes of paroxysmal dyskinesia and psychogenic disorders.