Benign Partial Epilepsy in Infancy with Paternal Diagnosis of Paroxysmal Kinesigenic Dyskinesia: A Case Report of Familial Infantile Convulsions and Choreoathetosis Syndrome
- VernacularTitle:遺伝学的検査が臨床的に有用であった乳児けいれん・発作性舞踏アテトーゼ症候群の1例
- Author:
Chihiro TAKASE
1
;
Kentaro SHIRAI
1
;
Akimitsu WATANABE
1
Author Information
- From:Journal of the Japanese Association of Rural Medicine 2020;69(2):161-164
- CountryJapan
- Language:Japanese
- Abstract: Benign partial epilepsy in infancy (BPEI) is a known cause of paroxysmal kinesigenic dyskinesia (PKD) in childhood. These two conditions have recently been grouped under the diagnosis of infantile convulsions and choreoathetosis (ICCA) syndrome, for which mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been shown to be responsible. Here, we report on a case of familial ICCA syndrome with an identical mutation in the PRRT2 gene. A 4-month-old infant developed BPEI, and this led to the diagnosis of PKD in his father. The father had been having exercise-onset rigidity of the upper and lower limbs since childhood and had been diagnosed with epilepsy but had not received proper treatment. Both BPEI and PKD are known to improve dramatically with low dose carbamazepine. Correct diagnosis and proper knowledge of ICCA syndrome is essential for providing adequate treatment and precise information on the genetic aspects of the disease to patients and their families.
