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Connatal form of PMD is less frequent and far more severe than the classic phenotype. Classic PMD affected males also have improved cognitive development, with acceptable speech. Pelizaeus-Merzbacher disease clinical escalla nosological study. Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease Translated title es: In general, PLP1 gene duplications result in a classical form of PMD, nonsense mutations in either form of SPG2 and connatal form of PMD, and other monoallelic mutations have been related to less circumscribed clinical phenotypes 6.

First symptoms No head support or crawling. Connatal form of PMD is more severe than the classical form, a verifiable fact in our series, and with a reported expectancy of life lower than the first decade of life. NS, a variant of the PMD spectrum, presents as a periferic demyelinating neuropathy. This study was approved by the ethics committee of the Faculty of Medicine of Universidad Nacional.

Q99X and missense mutation c. In the physical examination, Its genetic etiology affects the expression desarorllo the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Xq Q99X affects the cytoplasmic domain while c.

It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school.

Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease

In our sample, two patients had history of cerebral palsy, being an actual comorbidity in only one of them. Z Ges Neurol Psychiatr. Uicef of Washington, Seattle; https: Available for review by the Editors of this journal and are kept within the clinical records of each patient. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.


This article describes seven Colombian individuals with clinical, paraclinical and molecular diagnosis of PMD, through deswrrollo and gene variant characterization. Seven individuals ages 6 months to 16 years 4 probands, 3 male relatives of the probandsdiagnosed clinically, paraclinically and molecularly as Pelizaeus Merzbacher patients, attended in different medical care centers in Colombia Fig.

Escala Abreviada de Desarrollo Unicef Colombia scribdcom –

Laboratory endpoints are shown in Table 2. Molecular Analysis and Results: On the other hand, NS patients suffer from a less harmful condition also caused by large deletions or damaging mutations resulting in loss of PLP1 protein product.

Neuroimaging of patients with classic PMD showed evidence of T2 hyperintensities both diffuse or periventricular in the supratentorial withe matter. The espectrum of PLP1 gene mutations in patients with classical form of the Pelizaeus Merzbacher disease.

For two cases molecular confirmation was not considered necessary given their affected male brothers had already been tested. In our study, it is to note patients with the connatal form showed worse scores of disability High severity scores in the PMD Disability Scoring System and more pronounced developmental delay, and those continue to worsen until their deaths.

Clinically, it presents with developmental delay, nystagmus and spasticity, supported by neuroimaging in which the defect of myelination is evident. The proteolipid protein gene and myelin disorders in man and animal models. Exon 1 only transcribes the start codon, while exons 2, 3, 4, and 5 encode the hydrophobic domains and the hydrophilic chains of the protein. Because of this, it is a priority for the clinical specialists and treating physicians to improve the diagnosis algorithms in order to shorten time before establishment of the specific therapeutic plan and the appropriate genetic counseling for the families.


All patients included were male, 6 months to 16 years of age.

Interestingly, it has been described NS affected individuals to have a multifocal demyelinating neuropathy 812 sometimes being the only clinical feature of the syndrome; NS patients do not present with nystagmus, their spastic paraplegia is mild, affecting primarily the lower limbs, and ataxic compromise may vary. Diffuse compromise of retinocorial pathways with axonal lost pattern.

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease metabolic abnormalities as diagnostic tools.

Saray Esther Polo Polo

They underwent clinical evaluations, neuroimaging i. Motor impairment of the limbs is less severe tan that presented in the connatal form, and patients can frequently achieve walking even if requiring special aids, and have better control of voluntary movement of the upper limbs 9 Escalaa GM, Kamholz J.

Unlike other leukodystrophies in which there is a period of normal cortical myelination an then comes a disruption resulting in the lost of myelin sheaths demyelinationPMD has, from the beginning, an abnormal or low production of this very important protein hypomyelinationdue to a damage on the PLP1 gene coding for the Protelipidic Protein type 1 that interferes with the oligodendrocyte synthesis of fully functional myelin sheaths and probably also affects the peripheral function of myelinated axons 38.

Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, nuicef compared to the connatal phenotype. Discussion We present one of the first Latin-American series of patients with clinical diagnosis and molecular confirmation of Pelizaeus Merzbacher disease, being the classical form more frequent than the connatal form in the evaluated patients.

Severe compromise of physiological tresholds.