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Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools

Eun Lee, Mi-Sun Yum, Hae-Won Choi, Han-Wook Yoo, Su Jeong You, Eun-Hye Lee, Tae-Sung Ko

Clin Exp Pediatr. 2012;55(10):397-402. Published online October 29, 2012

Crossref 2

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...

DOI: https://doi.org/10.3345/kjp.2012.55.10.397

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