• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.157-160
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• 2016

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

• Clinical and Experimental Pediatrics
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• 제50권7호
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• pp.694-697
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• 2007

발작성 운동이상증(Paroxysmal kinesigenic dyskinesia, PKD)은 경련성 발작과 구분해야 하는 드문 신경질환으로써 1940년에 Mount와 Reback에 의해 발작성 무도무위증(paroxysmal dystonic choreoathetosis)란 용어로 처음 보고되었으며 1967년 Kertesz에 의해 처음으로 발작성 운동이상증(Dyskinesia)으로 명명 되어졌다. PKD는 아동기에서 성인기 초에 호발하며 가족성 우성 유전으로도 나타날 수 있고 chromosome 16p11.2-q12.1, 16q13-q22.1, 2q32-36과 관계 있다는 보고가 있다. 증상은 대부분 수 초 이내 멈추나 드물게 5분 이상 지속되는 경우도 있다. 증상 발현 전에 감각 이상 등의 전구 증상이 동반되는 경우가 있으며 의식소실은 동반되지 않는다. 치료는 carbamazepne, phenytoin, valproic acid, clonazepam 등의 항경련제를 투여하는데 일부에서는 oxycarbazepine이나 levodopa를 투여하기도 한다. 저자들은 한 가족의 세명의 형제에서 나타난 발작성 이상운동증을 경험하고 항경련제(Oxcarbamazepine or Carbamazepine)를 통한 좋은 치료성적을 거두었기에 보고하는 바이다.

• 동의신경정신과학회지
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• 제19권2호
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• pp.289-297
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• 2008

Paroxysmal Kinesigenic Dyskinesia ( PKD ) is an unusual dyskinesia often precipitated by voluntary movements and characterized by brief episodes of choreic/ dystonic movements. Little is known of the pathophysiology of PKD, although secondary etiologies such as multiple sclerosis, ischemic stroke, birth injury , head trauma, drug abuse, etc. are known to induce the disease. We report a case of a male patient suffering from both legs dystonia for 10 years. He had a past history of drug abuse, and was diagnosed as PKD by a neurologist. We treated him with acupucture and herbal medicine and was able to observe the improvement in certain symtoms and general condition.

• Clinical and Experimental Pediatrics
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• 제56권1호
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• pp.42-44
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• 2013

Neurological complications associated with 2009 H1N1 infection in children have been reported and recognized worldwide. The most commonly reported neurological complications are seizures and encephalopathy. Secondary movement disorders are also associated with the infection, but such cases are rarely reported. Here, we describe the case of a 14-year-old boy with paroxysmal kinesigenic dyskinesia secondary to 2009 H1N1 infection, who presented with dystonia and choreic movement triggered by sudden voluntary movement.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.19-22
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• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.