Objectives: In Colombia, 4.3% of the population 5 years or older lives with a disability. They face higher levels of poverty and social exclusion compared with persons without disabilities.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2024
Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by gene variants with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa.
View Article and Find Full Text PDFObjective: The COVID pandemic has affected Colombia with a high number of cases and deceases; however, no studies have been published regarding pediatric population. An epidemiologic analysis of the nationwide COVID register, therefore, is necessary to outline and describe the impact in such population.
Methods: A retrospective analysis was made of the characteristics of a cohort of 5062 patients <18 years of age, until June 16, 2020, reported at the National Institute of Health-INS (https://www.
Introduction: The ratio of cerebrospinal fluid (CSF) glucose and blood glucose is of major relevance, conducting to the diagnosis of hypoglycorrhachia, which is a sign of neuroinfection, as well as a number of neurological diseases of genetic or neoplastic etiology. Glucose in capillary sample (glucometry) is a low cost, readily available technique, as compared to venous glucose. This study aims to compare glucometry to venous glucose in the diagnosis of hypoglycorrhachia in pediatric population.
View Article and Find Full Text PDFBackground: Baló's concentric sclerosis (BCS) is a rare subtype of tumefactive demyelinating disease with characteristic radiological and pathological features. In the medical literature, less than 10 BCS cases have been reported in the pediatric population.
Case: We report the case of a 5-year-old boy who presented to the emergency department with 2 days of left-sided weakness.