- Case Report
- A familial case report of paroxysmal kinesigenic dyskinesia in three brothers
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Oh Dae Kwon, Sung Jin Hwang, Jun Hwa Lee, Ji Eun Kim, Kyung Jib Kim, Eul Ju Seo
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Clin Exp Pediatr. 2007;50(7):694-697. Published online July 15, 2007
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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... |
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- A Case of de novo Interstitial Deletion of 17 Chromosome
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Kyung Hee Yoon, Hee Cheol Lee, Ai Rhan Kim, Ki Soo Kim, Soo Young Pi, Eul Ju Seo, Han Wook Yoo
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Clin Exp Pediatr. 2001;44(4):475-479. Published online April 15, 2001
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This is the first reported case of a unique interstitial deletion involving the long arm of chromosome 17 in a Korean male infant born to parents with normal karyotype. The patient presented with multiple congenital malformations suggestive of chromosomal anomaly including round face, upslanted palpebral fissure, hypertelorism, posteriorly rotated low set ear, micrognathia, microcephaly, finger- like thumb, bilateral hearing loss,... |
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