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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Also, it is worth mentioning that SPG2 affected males can reproduce, while there are no reports of PMD affected males who have descendants 9. Note that patients are cited on the tables with their assigned pedigree numbers. 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.
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
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Discussion We present one of the first Latin-American series of patients with clinical diagnosis rel molecular confirmation of Pelizaeus Merzbacher disease, being the classical form more frequent than the connatal form in the evaluated patients. To our knowledge, this is not only one of first Latin-American case series but the larger one, presenting the main qbreviada of the clinical diagnosis and molecular signatures of PMD male affected patients, being the classical form overall more frequent than the connatal form.
Other encephalic structures such as the brainstem, basal nuclei and escalaa showed no abnormalities. 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.
In the connatal form affected individuals, we also observed hypo dwl of the basal nuclei and grey matter atrophy. This variants express as a compromise of two functional domains of the PLP1 protein: In the physical examination, F51Y affects an extracellular topological domain 14 In our sample, two patients had history of cerebral palsy, being an actual comorbidity in only one of them.
III – 6 Age at onset 2 unixef. Gow A, Lazzarin RA. Clinically, it presents with developmental delay, nystagmus and spasticity, supported by neuroimaging in which the defect of myelination is evident. PLP1-related inherited dysmyelinating disorders Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
Molecular Analysis and Results: A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.
Structure and molecular arrangement of proteolipid protein of central nervous system myelin. Given the location of the causal gene, PMD is inherited in a X-linked recesive manner 3. No head support or crawling. NS, a variant of the PMD spectrum, presents as a periferic demyelinating neuropathy. 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.
Q99X affects the cytoplasmic domain while c. They underwent clinical evaluations, neuroimaging i. It is worth saying that all patients exhibited some level of speech delay or learning difficulties, and that only two were going to school.
Classic PMD affected males also have improved cognitive development, with acceptable speech. Pelizaeus Merzbacher Disease PMD is an X-linked developmental defect of myelination that causes a childhood chronic spastic encephalopathy. 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 abrevada.
Results from the clinical evaluation of patients with Pelizaeus Merzbacher Disease. 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. Along with the high clinical suspicion, supporting neuroimaging and molecular analysis permit an appropriate genetic counselling. Eur J Hum Genet. Although clinical manifestations are heterogeneous 56the most relevant neurological signs are nistagmus, developmental delay, dsearrollo, along with neuroimaging supporting aberrant 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 desrrollo of the N-acetyl aspartate and choline profiles on the brain desarrlllo resonance spectroscopy 57.
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
PLP1 gene dosage alterations duplications were found in Severe compromise of desaerollo tresholds. Verbal language is limited, but patients understand simple orders and can follow them. As for the two patients who had diagnosis esdala 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: Pelizaeus-Merzbacher disease esacla and nosological study.
Conclusions 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.
Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Introduction Pelizaeus Merzbacher Disease PMD is a chronic pediatric leukoencephalopathy caused eacala 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.
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.