Neuropsychiatric Disease and Treatment (Jun 2018)
Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report
Abstract
Fen Pan,1,2 Shangda Li,3 Haimei Li,3 Yi Xu,1,2 Manli Huang1,2 1Department of Psychiatry, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China; 2The Key Laboratory of Mental Disorder’s Management of Zhejiang Province, Hangzhou 310003, China; 3School of Medicine, Zhejiang University, Hangzhou 310000, China 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. Keywords: paroxysmal kinesigenic dyskinesia, misdiagnosis, PRRT2 gene
