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Errores innatos metabólicos en parálisis cerebral: estudio en 174 infantes / Inborn errors of metabolism in 174 cases of cerebral palsy
Revista Digital de Postgrado ; 9(2): 205, ago. 2020. tab
Article in Spanish | LILACS (Americas), LIVECS | ID: biblio-1102879
Responsible library: VE1.1
RESUMEN
La Parálisis Cerebral (PC) es un conjunto de alteraciones motrices no progresivas en la población infantojuvenil, ocasionadas por lesión ­a nivel cerebral- de neuronas o fibras de esa vía, de sus aferencias o de las que la modulan; para su diagnóstico deben conocerse otras patologías también frecuentes y que pueden incidir simultánea o causalmente en la motricidad del paciente; la resultante sería disfunción motora tanto voluntaria como involuntaria, refleja o con propósito, de la postura y/o del tono muscular.

Objetivo:

detectar errores innatos metabólicos (EIM) que causan o se asocian con PC en una serie significativa.

Métodos:

Estudio descriptivo-interpretativo, se revisaron los expedientes clínicos del Centro de Parálisis Cerebral de Caracas, en cuyos diagnósticos se presentaron ambas alteraciones, entre los años 1988 y 2018.

Resultados:

De las 2.000 historias clínicas revisadas, el exámen clínico y las pruebas de laboratorio permitieron seleccionar 174 casos de EIM.

Conclusiones:

Se tipificaron los errores innatos metabólicos en diez formas clínicas distintas, se evidenciaron en pacientes con PC atendidos en un centro público de Caracas, es posible que la casuística sea varias veces mayor en Venezuela dado que ya no se aplica la pesquisa en los centros de atención pública(AU)
ABSTRACT
Cerebral Palsy (CP) is a set of non-progressive motor alterations in the child and youth population, caused by injury - at the brain level - of neurons or fibers of that pathway, their afferences or those that modulate it; for its diagnosis, other pathologies that are also frequent and that can simultaneously or causally affect the motor skills of the same patient must be known; The result would be both voluntary and involuntary motor dysfunction, reflected or with purpose, of posture and / or muscle tone.

Objective:

to detect inborn metabolic errors (EIM) that cause or are associated with CP in a significant series.

Methods:

Descriptive-interpretive study, we reviewed the clinical records of the Cerebral Palsy Center of Caracas, in whose diagnoses both alterations were presented, between the years 1988 and 2018.

Results:

Of the 2,000 clinical histories reviewed, the clinical examination and tests Laboratory tests allowed the selection of 174 cases of IMD.

Conclusions:

Inborn metabolic errors were typified in ten different clinical forms, they were evidenced in patients with CP treated in a public center in Caracas, it is possible that the casuistry is several times greater in Venezuela since the investigation is no longer applied in the centers of public attention(AU)
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Full text: Available Index: LILACS (Americas) / LIVECS Main subject: Cerebral Palsy / Metabolism, Inborn Errors / Neurons Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: Spanish Journal: Revista Digital de Postgrado Journal subject: Biomim‚tica / Medicina Year: 2020 Type: Article Institution/Affiliation country: Centro de Paralisis Infantil/VE / Universidad Central de Venezuela/VE