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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(01): 81
DOI: 10.1590/0004-282X20150170
IMAGES IN NEUROLOGY

Pelizaeus Merzbacher disease: dysmyelination versus demyelination

Doença de Pelizaeus Merzbacher: dismielinização versus desmielinização
Karina Akinaga
Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brazil.
,
Tiffany Yi Huei Lee
Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brazil.
,
Maria Augusta Montenegro
Universidade Estadual de Campinas, Departamento de Neurologia, Campinas SP, Brazil.
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Pelizaeus Merzbacher disease is characterized by abnormal myelin formation. In most patients it is caused by a X linked recessive mutation in the PLP1 gene. Typically, the disease begins in the first two months of life, but milder variations may not be present until childhood.

Symptoms include severe developmental delay, problems with feeding, hypotonia, nystagmus, spasticity, cerebelar ataxia, seizures and developmental delay[1]. Brain MRI shows abnormal white matter signal on T2 and FLAIR images, without abnormal signal on T1 images; therefore, suggesting dysmyelination[2],[3]. There is no reverse gray-white matter contrast in both T1 and T2 images (usually seen in demyelination, myelin destruction) ([Figure]).

Zoom Image
Figure MRI of a 24-month-old boy with severe developmental delay since birth. Neurological examination disclosed axial hypotonia, hyperreflexia, and horizontal nystagmus. Coronal T2 and Axial T2 images shows diffuse hyperintense signal in the white matter. Note that in the axial T1 image there is no hypointense signal in the white matter, which suggests dysmyelination (abnormal myelin structure).


Publication History

Received: 08 May 2015

Accepted: 15 July 2015

Article published online:
06 September 2023

© 2015. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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  • References

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  • 2 Pizzini F, Fatemi AS, Barker PB, Nagae-Poetscher LM, Horská A, Zimmerman AW et al. Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol. 2003;24(8):1683-9.
  • 3 Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol. 2000;21(6):1099-109.