4 years ago. Escala Abreviada De Desarrollo Unicef Colombia. Explicit content. Escala Abreviada De Desarrollo Unicef Co 4 years ago. GUIAS ALAD Trabajo presentado con los auspicios de UNICEF, en el Curso Internacional sobre Escala Abreviada de Desarrollo (Ministerio de Salud – Nelson Ortiz. Escala Abreviada del Desarrollo Psicosocial. [Internet]. Disponible en: http:// 8. Silvestre N.
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We present dfl series of seven Colombian patients diagnosed with this leucodystrophy, describing their genotypic and phenotypic characteristics and heterogeneity. 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.
Among other differential diagnosis we can count Krabbe disease, Canavan disease, other leukodystrophies and cerebral palsy.
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Connatal form of PMD is less frequent and far more severe than the classic phenotype. The proteolipid protein gene and myelin disorders in man and animal models. Copies of the written consents are. Note that patients are cited on the tables with their assigned pedigree numbers. Estudios Moleculares y Resultados: Although clinical manifestations are heterogeneous 56the most relevant neurological signs are nistagmus, developmental delay, spasticity, along with neuroimaging supporting desarollo myelination of the Central Nervous System CNS compromising primarily the periventricular white matter, with a tigroid striation pattern that responds to the conservation of myelinated islets, and also an alteration of the N-acetyl aspartate and choline profiles on the brain magnetic resonance spectroscopy 57.
Dedarrollo and molecular arrangement of proteolipid protein of central nervous system myelin. 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 classical form overall more frequent than the connatal form.
Exon 1 only transcribes the start codon, excala exons 2, 3, 4, and 5 encode the hydrophobic domains and the hydrophilic chains of the protein. Q99X and missense mutation c. In the physical examination, Mean age at diagnosis was 5 years 5 months, being classic PMD most frequently diagnosed, in five cases, whereas the connatal phenotype zbreviada only present in two of the patients, 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.
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. It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school. NS, unocef variant of the PMD spectrum, presents as a periferic demyelinating neuropathy.
III – 6 Age at onset 2 yr.
Saray Esther Polo Polo
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. Patients can also have nystagmus, optic atrophy, dysarthria, ataxic features and variable range of intellectual disability; however, symptoms appear to be less compromising tan those presenting in classic PMD. Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no reports of PMD affected males who have descendants 9.
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, as compared to the xbreviada phenotype. Molecular studies were used in the majority of the cases to confirm the diagnosis Laboratory endpoints are shown in Table 2. 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.
Ddesarrollo for review by the Editors of this journal and are kept within the clinical records of each patient.
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
Seven individuals ages 6 months to 16 years 4 probands, 3 male relatives of the probandsdiagnosed clinically, paraclinically and molecularly as Pelizaeus Merzbacher patients, hnicef in different medical care centers in Colombia Fig. Affected individuals with the connatal form of PMD die in infancy, usually secondary to respiratory or deglutition complications, such as bronchoaspiration 9.
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 uncief than the connatal form in the evaluated patients.
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease Translated title es: This variants express as a compromise of two functional domains of the PLP1 protein: Results from the paraclinical evaluation of patients with Pelizaeus Merzbacher Disease. Molecular studies were used in the majority of the cases to confirm the diagnosis.
Verbal language is limited, but patients understand simple orders and can follow them.