Pelizaeus Merzbacher disease (PMD) is an X-linked leukodystrophy which is characterised by an arrest in myelin development.
Patients may present with
- pendular eye movements
- pyramidal disease
It occurs from a derangement in the proteolipidprotein (PLP1) gene locus at Xq22. This can be either a mutation, deletion or duplication (commonest) 4.
Traditionally divided into 2 sub types
- connatal : rarer and more severe 5.
Non specific and may show hypo attenuating white matter with progressive white matter atrophy.
The lack of myelination is often seen as high T1 signal regions typically involving internal capsule, proximal corona radiata and the optic radiation and with near complete absence of expected low T2 signal in supra-tentorial region. signal abnormalites can either be diffuse or patchy. If there is patchy involvement, a characteristic tigroid appearance may be seen 5.
MR may also show cortical sulcal prominence.
MR spectroscopy : affected areas often show a reduction in the NAA peak 4.
- 1. Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging. AJNR Am J Neuroradiol. 2008;29 (7): 1270-1275. AJNR Am J Neuroradiol (full text) - doi:10.3174/ajnr.A1106
- 2. Van der knaap MS, Breiter SN, Naidu S et-al. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 1999;213 (1): 121-33. Radiology (full text) - Pubmed citation
- 3. Takanashi J, Sugita K, Osaka H et-al. Proton MR spectroscopy in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 1997;18 (3): 533-5. AJNR Am J Neuroradiol (abstract) - Pubmed citation
- 4. Pizzini F, Fatemi AS, Barker PB et-al. Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 2003;24 (8): 1683-9. AJNR Am J Neuroradiol (full text) - Pubmed citation
- 5. Cheon JE, Kim IO, Hwang YS et-al. Leukodystrophy in children: a pictorial review of MR imaging features. Radiographics. 22 (3): 461-76. Radiographics (full text) - Pubmed citation
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