Browse > Article

A familial case report of paroxysmal kinesigenic dyskinesia in three brothers  

Kwon, Oh Dae (Department of Neurology, School of Medicine, Catholic University of Daegu)
Hwang, Sung Jin (Department of Pediatrics, College of Medicine, Sungkyunkwan University, Masan Samsung Hospital)
Lee, Jun Hwa (Department of Pediatrics, College of Medicine, Sungkyunkwan University, Masan Samsung Hospital)
Kim, Ji Eun (Department of Neurology, School of Medicine, Catholic University of Daegu)
Kim, Kyung Jib (Department of Neurology, School of Medicine, Catholic University of Daegu)
Seo, Eul Ju (Department of Laboratory Medicine, University of Ulsan College of medicine and Asan Medical Center)
Publication Information
Clinical and Experimental Pediatrics / v.50, no.7, 2007 , pp. 694-697 More about this Journal
Abstract
Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic or choreoathetotic movement with a tingling or stiffness sensory aura. Evaluations of the patients included general physical examinations, endoclinologic, metabolic studies, chromosomal analysis, video electroencephalograms and brain MRI imaging. All of these studies were normal except for an arachnoid cyst found in one patient. All symptoms showed excellent response to oxcarbamazepine ($Trileptal^{(R)}$) or carbamazepine. Use of the video electroencephalogram can help differentiate familial PKD from seizures.
Keywords
Familial; Kinesigenic; Dyskinesia; Oxcarbamazepine ($Trileptal^{(R)}$);
Citations & Related Records
연도 인용수 순위
  • Reference
1 Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet 1999;65:1688-97   DOI   ScienceOn
2 Hwang WJ, Lu CS, Tsai JJ. clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia. Acta Neurol Scand 1998;98:340-5   DOI   ScienceOn
3 Zhongzeng Li, Robert P, Turner and Gigi Smith. Childhood paroxysmal kinesigenic dyskinesia: Report of seven cases with onset at an early age. Epilepsy Behav 2005;6:435-9   DOI   ScienceOn
4 Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within the paroxysmal choreaathetosis syndrome: description of 10 cases, including 1 autopsied. Neurology 1967;17:680-90   DOI
5 Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-9   DOI   ScienceOn
6 Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, et al. A second paroxysmal kinesigenic choreoathetosis locus(EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000;123:2040-5   DOI   ScienceOn
7 Matsuo H, Kamakura K, Matsushita S, Ohmori T, Okano M, Tadano Y, et al : Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. Am J Med Genet 1999;88: 733-7   DOI   ScienceOn
8 Fahn S. The paroxysmal dyskinesias, in Marsden CD, Fahn S (eds): Movement Disorders, 3rd ed. Oxford, UK: Butterworth-Heinemann Ltd, 1994:310-45
9 Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. J Neurol 1999;246:120-6   DOI
10 Tsao CY. Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis. J Child Neurol 2004;19:300-1   DOI
11 Margari L, Presicci A, Ventura P, Margari F, Perniola T. Channelopathy: Hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. Pediatr Neurol 2005;32:229-35   DOI   ScienceOn
12 Loong SC, Ong YY. Paroxysmal kinesigenic choreoathetosis: report of a case relieved by L-dopa. J Neurol Neurosurg Psychiatry 1973;36:921-4   DOI
13 Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995;38:571-9   DOI   ScienceOn
14 Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977;2:285-93   DOI   ScienceOn
15 Mount LA, Reback S. Familial paroxysmal choreoathetosis. Arch Neurol Psychiatry 1940;44:841-7   DOI