Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease.

ABSTRACT:

Case presentation

Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nystagmus and, spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity.

Clinical findings

All patients included were male, 6 months to 16 years of age. Mean age at onset of symptoms was 8 months. Mean age at diagnosis was 5 years 5 months, being classic P

SUBMITTER: Velasco Parra HM 

PROVIDER: S-EPMC6084915 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature