Hallazgos neuro-estrabismológicos en una paciente con Síndrome de Kabuki
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https://revistas.ustabuca.edu.co/index.php/USTASALUD_ODONTOLOGIA/article/view/2485
10.15332/us.v19i0.2485
10.15332/us.v19i0.2485
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Universidad Santo Tomás Seccional Bucaramanga
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El síndrome de Kabuki es un trastorno congénito, evolutivo y permanente que posee manifestaciones clínicas características. Se presenta el caso de una niña con diagnóstico de síndrome de Kabuki MLL2 positivo a quien se le realizó tipificación, caracterización clínica, estudio oftalmológico, estrabismoglógico, análisis perceptual visual, optométrico y estudios de neuroimagen. Se identificó facies característica, estrabismo disociado, anisocoria, disminución de habilidades perceptuales, hipocoherencia y asimetría interhemisférica importante para Delta y Theta, disminución del volumen del hipocampo izquierdo y de la arborización de la vía visual en su porción posterior izquierda, disminución de la colina y un incremento del lactato cortical. El estudio reveló alteraciones corticales y de la vía visual.
Kabuki syndrome is a congenital, evolutionary, and permanent disorder that has characteristic clinical manifestations. The case of a girl with a diagnosis of MLL2 positive Kabuki syndrome is presented who underwent typing, clinical characterization, ophthalmological study, strabismological, visual perceptual analysis, optometric and neuroimaging studies. Characteristic facies, dissociated strabismus, anisocoria, decreased perceptual abilities, hypo coherence and significant interhemispheric asymmetry were identified for Delta and Theta, decreased volume of the left hippocampus and arborization of the visual pathway in its left posterior portion, decreased choline and an increase in cortical lactate. The study revealed cortical and visual pathway alterations.
Kabuki syndrome is a congenital, evolutionary, and permanent disorder that has characteristic clinical manifestations. The case of a girl with a diagnosis of MLL2 positive Kabuki syndrome is presented who underwent typing, clinical characterization, ophthalmological study, strabismological, visual perceptual analysis, optometric and neuroimaging studies. Characteristic facies, dissociated strabismus, anisocoria, decreased perceptual abilities, hypo coherence and significant interhemispheric asymmetry were identified for Delta and Theta, decreased volume of the left hippocampus and arborization of the visual pathway in its left posterior portion, decreased choline and an increase in cortical lactate. The study revealed cortical and visual pathway alterations.
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Cerebral Cortex, Strabismus, Neuroimaging, Corteza cerebral, Estrabismo, Neuroimagen
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