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Only three patients were able to achieve gait, though altered. Gow A, Lazzarin RA.

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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 abrviada 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.

We believe it is important to establish the biochemical functionality of I47 position on the myelin proteolipidic protein to evaluate its impact on the connatal phenotype of PMD disease, given that there are not functional studies to this date that prove in vitro or in vivo effects. PLP1 gene dosage alterations duplications were found in Its genetic etiology affects the expression of the Proteolipidic Protein type 1 34varying from hemizygous mutations to gene dosage alterations of the PLP1 Xq Survival rates in dessrrollo patients have been described to be up to the seventh decade of life.

In the physical examination, Z Ges Neurol Psychiatr. Q99X and missense mutation c. Results All patients were male, 6 months to 16 years of age, one of them died by the age of 5 due to complications of a respiratory infection. Classic PMD is characterized in the first stages of disease by nystagmus, hypotonia and tremor in male affected patients, joint progressively by ataxia and spastic quadriparesis in the school age.

They underwent clinical evaluations, neuroimaging i. Estudios Moleculares y Resultados: 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.


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, abreviadaa those continue to worsen until their deaths. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Connatal form of PMD is less frequent and far more severe than the classic phenotype.

Copies of the written consents are. No head support or crawling. Hobson GM, Kamholz J. Another differential diagnosis to consider is SPG2, an allelic disorder to PMD and NS, consisting of an heterogeneous constellation of clinical phenotypes primarily characterized by weakening and progressive lower limb spasticity during the first decade of life, with previous normal motor development.

As for the two patients who had diagnosis of connatal PMD, it was documented both had experienced swallowing or deglutory disorders, history of seizures, microcephaly in just one of them and maturational ages in danger zones according to the WHO Abbreviated Scale of Psychosocial Development WHO Abbreviated Scale of Psychosocial Development, https: Other encephalic structures such as the brainstem, basal ahreviada and cerebellum showed no abnormalities.

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. Also, we applied the PMD functional disability scoring system and the WHO Abbreviated Scale of Development to assess the degree of developmental retardation and disability on our patients To our knowledge, this is not only one of first Latin-American case series but the larger one, presenting the main characteristics of the clinical diagnosis and molecular signatures of PMD male affected patients, being the uniceef form overall more frequent than the connatal form.

Neuroradiologic correlates of clinical disability and progression in the Unjcef leukodystrophy Pelizaeus-Merzbacher disease. Introduction Pelizaeus Merzbacher Disease PMD is a chronic pediatric leukoencephalopathy caused by disorders of the axonal myelination and the myelin metabolism in the oligodendrocytes, reported for the first time on by doctor Friedrich Pelizaeus 1 and revisited on by Ludwig Merzbacher 2.


Calaméo – Saray Esther Polo Polo

escalx Most of mutations detected on individuals diagnosed with SPG2 are missense 8. Diagnosis can be mistaken primarily with SPG2, also caused by mutations on the PLP1 gene, differing on signs such as autonomic dysfunction and characteristic paraplegia. Frequently, the connatal form of PMD is expressed during the first weeks of life, through key findings in the clinical neurological dell, that include pendular nystagmus, hypotonia and laryngeal stridor; later in life, seizures and sever motor deficits appear, and hypotonia turns to weakening limb spasticity; affected patients may never walk Diffuse compromise of retinocorial pathways with axonal lost pattern.

Available for review by the Editors of this journal and are kept within the clinical records of each patient. Structure and molecular arrangement of proteolipid protein of central nervous system myelin. PLP1-related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type desarrolllo. Verbal language is limited, but abreviadw understand simple orders and can follow them.

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders. Pelizaeus-Merzbacher disease clinical and nosological study. Case series presentation 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.

Saray Esther Polo Polo

It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school. Molecular Analysis and Results: This study was approved by the ethics committee of the Faculty of Medicine of Universidad Nacional.

Affected individuals with the connatal form of PMD die in infancy, usually secondary to respiratory or deglutition complications, such as bronchoaspiration 9. Neuroimaging of patients with classic PMD showed evidence of T2 hyperintensities both diffuse or periventricular in the supratentorial withe matter.