[Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence]. / Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia.

Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis, it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair, which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.

La ataxia de Friedreich, de herencia autosómica recesiva causada por una expansión repetida de trinucleótidos se asocia, entre otras complicaciones sistémicas, con diabetes mellitus. La aparición de torpeza motriz, con dificultad en la carrera y el salto en un varón de 6 años motivaron el estudio genético para ataxia de Friedrich y permitieron confirmar el diagnóstico. Tres años más tarde, se diagnosticó diabetes mellitus y se inició el tratamiento con insulina. Durante el seguimiento, presentó un importante deterioro neurológico, con necesidad de usar silla de ruedas, lo que dificultó un adecuado control metabólico. Se presenta el manejo y la evolución de un paciente con ataxia de Friedreich y diabetes mellitus.

Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia / Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence

La ataxia de Friedreich, de herencia autosómica recesiva causada por una expansión repetida de trinucleótidos se asocia, entre otras complicaciones sistémicas, con diabetes mellitus. La aparición de torpeza motriz, con dificultad en la carrera y el salto en un varón de 6 años motivaron el estudio genético para ataxia de Friedrich y permitieron confirmar el diagnóstico. Tres años más tarde, se diagnosticó diabetes mellitus y se inició el tratamiento con insulina. Durante el seguimiento, presentó un importante deterioro neurológico, con necesidad de usar silla de ruedas, lo que dificultó un adecuado control metabólico. Se presenta el manejo y la evolución de un paciente con ataxia de Friedreich y diabetes mellitus

Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis,it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair,which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.

The triglyceride/glucose index as an insulin resistance marker in the pediatric population and its relation to eating habits and physical activity.

INTRODUCTION: To examine the triglyceride/glucose index (TyG) as an insulin resistance marker in obese children and adolescents and its relation to clinical and biochemical parameters, body composition and lifestyle. PATIENTS AND METHOD: Sixty patients aged 7-16 years of age were enrolled. Anthropometric variables were recorded, together with pubertal stage, blood pressure and body composition assessed by bioimpedance. The TyG index was calculated as ln (fasting glucose (mg/dL) × triglycerides (mg/dL))/2 and the HOMA (homeostatic model assessment) index as fasting insulin (µU/mL) × fasting glucose (mmol/L)/22.5. Feeding habits were documented by adherence to the Mediterranean dietary pattern questionnaire, while physical activity was assessed using the International Sedentary Assessment Tool (ISAT), as well as accelerometry (Actigraph wGT3X+). RESULTS: The mean TyG index was 4.45 ±â€¯0.18, and proved higher in the pubertal group. We found a positive correlation with the HOMA index (r = 0.39; P = 0.03) and TG/HDL-c index (r = 0.53; P < 0.001). The best cut-off point of the TyG index for predicting insulin resistance was 4.21 in prepubertal children (sensitivity 84%, specificity 100%; AUC: 0.84) and 4.33 in pubertal children (sensitivity 89%, specificity 69%; AUC: 0.61). A positive correlation was found with screen time (r = 0.39; P = 0.01), as well as a negative correlation with caloric expenditure (Kcal/day) in the prepubertal group (r = -0.81; P = 0.005). CONCLUSIONS: The TyG index could be a useful insulin resistance marker in the pediatric population. Moderate to vigorous physical activity should be encouraged, as well as restricting screen time for leisure purposes, mainly in the prepubertal group.

The triglyceride / glucose index as an insulin resistance marker in the pediatric population and its relation to eating habits and physical activity. / El índice triglicéridos-glucosa como marcador de insulinorresistencia en población pediátrica y su relación con hábitos de alimentación y actividad física.

INTRODUCTION: To examine the triglyceride/glucose index (TyG) as an insulin resistance marker in obese children and adolescents and its relation to clinical and biochemical parameters, body composition and lifestyle. PATIENTS AND METHOD: Sixty patients aged 7-16 years of age were enrolled. Anthropometric variables were recorded, together with pubertal stage, blood pressure and body composition assessed by bioimpedance. The TyG index was calculated as ln (fasting glucose (mg/dL)×triglycerides (mg/dL))/2 and the HOMA (homeostatic model assessment) index as fasting insulin (µU/mL)×fasting glucose (mmol/L)/22.5. Feeding habits were documented by adherence to the Mediterranean dietary pattern questionnaire, while physical activity was assessed using the International Sedentary Assessment Tool (ISAT), as well as accelerometry (Actigraph wGT3X+). RESULTS: The mean TyG index was 4.45±0.18, and proved higher in the pubertal group. We found a positive correlation with the HOMA index (r=0.39; P=.03) and TG/HDL-c index (r=0.53; P<.001). The best cut-off point of the TyG index for predicting insulin resistance was 4.21 in prepubertal children (sensitivity 84%, specificity 100%; AUC: 0.84) and 4.33 in pubertal children (sensitivity 89%, specificity 69%; AUC: 0.61). A positive correlation was found with screen time (r=0.39; P=.01), as well as a negative correlation with caloric expenditure (Kcal/day) in the prepubertal group (r=-0.81; P=.005). CONCLUSIONS: The TyG index could be a useful insulin resistance marker in the pediatric population. Moderate to vigorous physical activity should be encouraged, as well as restricting screen time for leisure purposes, mainly in the prepubertal group.