Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12494/33682
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dc.coverage.temporal30 (6)es
dc.creatorHurtado González, Carlos Alberto-
dc.creatorCordoba, A.-
dc.creatorAlvear, L.-
dc.creatorRamos, G. E.-
dc.creatorCINEPSIS-
dc.creatorSEMINEC-
dc.date.accessioned2021-03-19T20:21:19Z-
dc.date.available2021-03-19T20:21:19Z-
dc.date.issued2019-09-
dc.identifier.issn09070-938Xes
dc.identifier.urihttp://hdl.handle.net/20.500.12494/33682-
dc.descriptionLa leucodistrofia metacromática (MLD) es una patología crónica de baja prevalencia y baja incidencia a nivel mundial, se caracteriza por presentar alteraciones en la sustancia blanca del sistema nervioso central (SNC), resultado de una deficiencia de la Arilsulfatasa A (ARSA). enzima que se encarga de catalizar diferentes reacciones químicas en todo el organismo. Se ha encontrado que la MLD está clínicamente relacionada con una deficiencia del funcionamiento neurocognitivo, especialmente en tareas de memoria (memoria operativa) y en funciones ejecutivas (fluidez verbal semántica, inhibición, planificación y control de la conducta inmediata). Objetivo: Identificar el deterioro neurocognitivo y los síntomas neuropsiquiátricos en un paciente diagnosticado de MLD. Reporte de caso de baja prevalencia e incidencia en Colombia. Metodología: Participante: Paciente de sexo femenino de 60 años, soltera, diestra y docente con pérdida progresiva de la memoria reciente, acompañada de inestabilidad postural, alteración de la marcha, problemas de equilibrio y alteraciones moderadas a severas de tipo neurocognitivo y afectivo. Resultados: Se encontró que la paciente presenta alteraciones ejecutivas (lóbulo frontal) en la toma de decisiones, planificación, inhibición y en la memoria operativa, correlacionadas con una alteración severa en sus actividades básicas, instrumentales y avanzadas de la vida diaria. Conclusión: Es necesario realizar planes funcionales de neurorrehabilitación para personas diagnosticadas de LDM, teniendo como principal objetivo la mejora de su calidad de vida en los aspectos individual, social y familiar.es
dc.description.abstractThe metachromatic leukodystrophy (MLD) is a chronic pathology of low prevalence and low worldwide incidence, it is characterized by presenting alterations in the white substance of the central nervous system (CNS), result of a deficiency of the Arylsulfatase A (ARSA) enzyme which is responsible for catalyzing different chemical reactions throughout the organism. It is been found that MLD is clinically related to a deficiency of the neurocognitive functioning, especially in memory tasks (operative memory) and in executive functions (verbal semantic fluency, inhibition, planning and control of the immediate conduct). Objective: Identify the neurocognitive impairment and the neuropsychiatric symptoms in a patient diagnosed with MLD. Case report of low prevalence and incidence in Colombia. Methodology: Participant: Sixty aged female patient, single, right handed person and a teacher with a progressive loss of recent memory, accompanied with postural instability, gait disturbance, balance problems and moderate to severe alterations of neurocognitive and affective type. Results: It is been found that the patient presents executive alterations (frontal lobe) in decisionmaking, planning, inhibition and in operative memory, correlated to a severe alteration in her basic, instrumental and advanced activities of daily life. Conclusion: It is necessary to make neuro-rehabilitation functional plans for people diagnosed with MLD, having as a main objective the improvement of their quality of life in individual, social and family aspects.es
dc.format.extent858-863es
dc.publisherUniversidad Cooperativa de Colombia, Facultad de Ciencias Sociales, Psicología, Calies
dc.relation.ispartofBiomedical Researches
dc.relation.isversionofhttps://www.alliedacademies.org/articles/neuropsychiatric-symptoms-in-a-patient-diagnosed-in-adulthood-withmetachromatic-leukodystrophy-case-report-of-low-incidence-and-pr-11602.htmles
dc.subjectAtenciónes
dc.subjectFuncionamiento neurocognitivoes
dc.subjectFunciones ejecutivases
dc.subjectMemoriaes
dc.subjectLeucodistrofia metacromáticaes
dc.subject.otherAttentiones
dc.subject.otherNeurocognitive Functioninges
dc.subject.otherExecutive Functionses
dc.subject.otherMemoryes
dc.subject.otherMetachromatic Leukodystrophyes
dc.titleNeuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombiaes
dc.typeArtículos Científicoses
dc.rights.licenseNINGUNAes
dc.publisher.departmentCalies
dc.publisher.programPsicologíaes
dc.creator.mailcarlos.hurtadog@campusucc.edu.coes
dc.identifier.bibliographicCitationCordoba, A., Alvear L., Hurtado-González, C. A., Ramos, G., CINEPSIS y SEMINEC. Neuropsychiatric symptoms in a patient diagnosed in adulthood with Metachromatic Leukodystrophy: Case report of low incidence and prevalence in Colombia. Biomedical Research 2020; 30 (6), 858-863es
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