Niños y adolescentes con enfermedades raras atendidos en consulta provincial de nutrición

Foundation: suffering an uncommon disease causes difficulties for its timely diagnosis. Their prognosis overshadows when associated with malnutrition. Objective: to characterize children and adolescents with uncommon diseases and malnutrition, assisted in provincial nutritional consultation in Cienfuegos. Methods: a descriptive, retrospective and cross-sectional study whose universe consisted of 13 children and adolescents with uncommon diseases and malnutrition of variable severity who attended the Pediatric Hospital consultation of Cienfuegos. Data were obtained from clinical history review, medical interview and clinical and nutritional assessment. The following variables were analyzed: age, sex, type of malnutrition, birth weight, eating habits and alterations in apparatus and systems. The results were taken to a database for statistical processing by the SPSS program version 15,0. The results were presented in frequency and ratio tables of variables expressed in frequency number and in percentages. Results: there was predominance of the male sex with 9 (69,2 %) and of the group over 15 years old, with 5 (38,4 %). Moderate malnutrition was the frequent with 6 (46,1 %). It is representative that 8 patients exhibited a birth weight of more than 3,000 grams, for 61,5 %, while adequate eating habits occurred more frequently, highlighting the patients evaluated as moderate malnourished within the group. All of the patients have musculoskeletal disorders. The short stature was the most frequent of growth and development affectations, with 46,1 %. Patients with severe forms of malnutrition present a greater symptomatology expressivity. Conclusion: the most affected group was male sex over 15 years old, the normal weight at birth and the adequate eating habits prevailed. There were the representative musculoskeletal alterations in all cases.