The presence of oropharyngeal dysphagia in the pediatric population with genetic diseases it is still poorly studied. The aim of this study was to analyze the oral total transit time and pharyngeal transit time, in an individual with neuronal ceroid lipofucinosis (NCL) with severe oropharyngeal dysphagia. Individual with NCL, 3 years old, 2 years with gastrostomy and no oral feeding, weighting loss, but without pulmonary complications. Oropharyngeal swallowing was studied by videofluoroscopy and it was realized a quantitative analysis using software. Changes were observed throughout the whole biomechanics of swallowing. The quantitative analysis of total oral transit time was found 45.37 seconds (default normality in children is 4 seconds) and for pharyngeal transit time was 4.53 seconds. It was found that beside the changes in the biomechanics of oropharyngeal swallowing in the case studied, an increase in total oral transit time and pharyngeal transit time was also observed, which can significantly compromise the nutritional status and pulmonary these individuals.
Neuronal Ceroid-Lipofuscinoses; Deglutition Disorders; Quantitative Analysis
