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Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes a childhood chronic spastic encephalopathy. Its genetic aetiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nistagmus and spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of 7 Colombian patients diagnosed with PMD, describing their genotypic and phenotypic characteristics and heterogeneity. We found PLP1 mutations in 71,5% of patients taken to molecular diagnosis and PLP1 duplications in the other 28,5%. We suggest that for Colombian population it might be better to start the confirmatory algorithm with full sequencing of the affected gene.

Harvy Mauricio Velasco-Parra, 1 Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia 2 Hospital Militar Central, Bogotá, Colombia, 3 Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

-Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia2 Hospital Militar Central, Bogotá, Colombia, 3 Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

Silvia Juliana Maradei-Anaya, 1 Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia

1 Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia

Johanna Carolina Acosta-Guio, - Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia - Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

- Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia- Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

Clara Eugenia Arteaga-Diaz, - Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia- Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

- Maestria en Genética Humana, Facultad de Medicina, Universidad Nacional de Colombia- Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia.

Juan Carlos Prieto-Rivera, - Genetica Medica, Faculty of Medicine, Pontificia Universidad Javeriana. - Hospital La Victoria, Bogotá, Colombia.

- Genetica Medica, Faculty of Medicine, Pontificia Universidad Javeriana.- Hospital La Victoria, Bogotá, Colombia.
Velasco-Parra, H. M., Maradei-Anaya, S. J., Acosta-Guio, J. C., Arteaga-Diaz, C. E., & Prieto-Rivera, J. C. (2018). Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. Colombia Medica, 49(2), 182–187. https://doi.org/10.25100/cm.v49i2.2522

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Received 2016-08-23
Accepted 2017-11-02
Published 2018-06-29