Inborn errors of metabolism in 174 cases of cerebral palsy

Abstract

Introduction: 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.