- Case Report
- Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
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Eun Lee, Mi-Sun Yum, Hae-Won Choi, Han-Wook Yoo, Su Jeong You, Eun-Hye Lee, Tae-Sung Ko
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Clin Exp Pediatr. 2012;55(10):397-402. Published online October 29, 2012
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Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental... |
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- Original Article
- Long-term outcomes of infantile spasms
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Seak Hee Oh, Eun-Hye Lee, Min-Hee Joung, Mi-Sun Yum, Tae-Sung Ko
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Clin Exp Pediatr. 2010;53(1):80-84. Published online January 15, 2010
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Purpose : The aims of this study were to investigate the long-term outcomes in children with infantile spasms (IS) and to identify the prognostic factors influencing their neurodevelopment.
Methods : We retrospectively evaluated seventy two children over five years old who were treated for IS at Asan Medical Center, Seoul, Korea, between 1994 and 2007. Forty-three children were contacted by telephone... |
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