Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

Journal of Medical Case Reports

Hiroshi Azuma¹  Akiko Araki¹  Akie Okayama¹  Satoru Takahashi¹  Naoya Matsumoto¹ 

[1] Department of Pediatrics, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa, Hokkaido 078-8510, Japan

关键词: Seizures;    PRRT2;    Paroxysmal kinesigenic dyskinesia;    Mutation;    Benign infantile convulsion;   

Others  :  817693
DOI  :  10.1186/1752-1947-8-174

 received in 2014-01-21, accepted in 2014-03-17,  发布年份 2014

【 摘 要 】

Introduction

Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic dyskinesia because treatment with low doses of anticonvulsants is effective for eliminating the clinical manifestations. Paroxysmal kinesigenic dyskinesia can occur independently of or concurrently with benign infantile convulsion. Identification of PRRT2 as the causative gene of benign infantile convulsion and paroxysmal kinesigenic dyskinesia allows genetic confirmation of the clinical diagnosis.

Case presentation

We describe the clinical features of a Japanese family with either paroxysmal kinesigenic dyskinesia or benign infantile convulsion. A PRRT2 missense mutation (c.981C > G, p.Ile327Met) was identified in two patients with benign infantile convulsion and three patients with paroxysmal kinesigenic dyskinesia as well as in two unaffected individuals. Allowing incomplete penetrance in the mutation carriers, this mutation co-segregated completely with the phenotype. The patients with paroxysmal kinesigenic dyskinesia had been misdiagnosed with psychogenic illness for many years. They were correctly diagnosed with paroxysmal kinesigenic dyskinesia when their children visited a pediatrician for benign infantile convulsion. Treatment with carbamazepine controlled their involuntary movements completely.

Conclusions

Paroxysmal kinesigenic dyskinesia is a treatable movement disorder that is often misdiagnosed clinically as psychogenic illness. It is important to note that two clinically distinct disorders, benign infantile convulsion and paroxysmal kinesigenic dyskinesia, are allelic conditions caused by PRRT2 mutations. Paroxysmal kinesigenic dyskinesia should be suspected in families with a child with benign infantile convulsion.

【 授权许可】

   
2014 Matsumoto et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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