Caso para educación médica : mujer con deterioro de conciencia, somnolencia y rigidez en extremidades

This is a review of the clinical history of a 62-year-old patient who enters the Eugenio Espejo Hospital with a picture of altered consciousness and manifestations of Parkinsonism. An inadequate correction of hyponatremia as a cause of parkinsonism, is known as Central Pontine Osmotic Myelinolysis Syndrome. In the Osmotic Demyelination Syndrome, the exact mechanism that is responsible for the degeneration of oligodedrocytes with myelin damage and axon preservation is not fully understood...Se trata de una revisión de historia clínica de una paciente de 62 años que ingresa al Hospital de Especialidades Eugenio Espejo con un cuadro de alteración de la conciencia y manifestaciones de parkinsonismo. Una corrección inadecuada de hiponatremia como causante de parkinsonismo, a este síndrome se lo conoce como Mielinolisis central pontina por osmosis..

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes may overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. OBJECTIVE: To investigate the ability of whole-exome screening methods to detect disease-causing variants in individuals with PIDDs. METHODS: Individuals with PIDDs from 278 families from 22 countries were investigated using whole-exome sequencing (WES). Computational CNV prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic copy number variants (CNVs). Analytic approaches initially focused on 475 known or candidate PIDD genes, but were non-exclusive and were further tailored based upon clinical data, family history and immunophenotyping. RESULTS: A likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on the molecular findings. Twelve PIDD-causing CNVs were detected, including seven smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays. CONCLUSION: This high-throughput genomic approach enabled detection of disease-related variants in unexpected genes, permitted detection of low-grade constitutional, somatic and revertant mosaicism, and provided evidence of a mutational burden in mixed PIDD immunophenotypes