Os erros hereditários do metabolismo são um grupo de doenças heterogéneas e multissistémicas. Apesar de cada doença individualmente ser rara, no seu conjunto são relativamente comuns. O sistema nervoso central é habitualmente afetado. Os autores apresentam o caso de uma lactente de cinco meses de idade, filha de pais não consanguíneos, nascida de uma gravidez de termo e parto sem intercorrências. Aos cinco meses, iniciou um quadro de hipotonia e regressão do desenvolvimento, apresentando ao longo do tempo dismorfismo facial, hepatomegália, convulsões e cardiomiopatia dilatada. O diagnóstico de Gangliosidose tipo 1 foi confirmado por achados bioquímicos, enzimáticos e genéticos. Este caso clínico reforça a relevância de uma abordagem e seguimento multidisciplinares.

Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.

ABSTRACT Objective Overweight seems to be related to a higher prevalence of sleep disturbances. Decreased sleep duration and altered sleep quality are risk factors for obesity. Our aim was to compare the sleep pattern of overweight children with that of a matched control group and assess the relationship between sleep quality and obesity. Materials and methods Retrospective cohort study comparing 41 overweight children with a normal-weight control group, both submitted to polysomnography. The samples were matched for age, sex, and apnea-hypopnea index. Body mass index (BMI) z-scores were calculated using World Health Organization (WHO) growth charts. Insulin resistance in the study group was determined using the homeostatic model assessment for insulin resistance (HOMA-IR). Sleep patterns were compared. The statistical analysis was performed using SPSS® version 21. Results The mean age (± standard deviation) of the population was 10 ± 3.4 years (min. 5 years; max. 17 years). Fifty-six percent of the participants in both groups were girls. N3% was lower in the study group (18.95 ± 6.18%) compared with the control group (21.61 ± 7.39%; t (40) = 2.156, p = 0.037). We found a correlation in the study group between HOMA-IR and N3% (Rs = -0.434, p = 0.008). Conclusion The present study suggests a link between overweight/obesity and altered sleep quality due to compromised non-rapid eye movement sleep, an indirect marker of sleep quality. There was also a link between slow-wave sleep duration and insulin resistance. We must find a strategy to provide adequate slow-wave sleep duration to reduce the obesity epidemic at young ages. Further research is needed.