Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder of the CNS. The cause is abnormal production of proteolipid protein–1 (PLP-1 )that is a principal components of myelin. It is characterised by rotatory nistagmus, early muscular hypotonia, head shake, ataxia, spasticity and mental retardation. The diagnosis of PMD is with clinical findings, MRI and genetic analysis. MR spectroscopy findings of PMD show differences. However the MR spectroscopy may be helpful in the diagnosis and differential diagnosis of PMD. In this article, a case with PMD and MRS findings is reported in light of the literature.
Key Words: Pelizaeus-Merzbacher Disease, Magnetic Resonance, Spectroscopy
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