Introduction: Ketogenic diet is a low carbohydrate diet, which can be used as a treatment for refractory childhood epilepsy. The first aim of this study was to evaluate its efficacy, in patients receiving ketogenic diet for at least three months, on epilepsy control, behaviour and awareness. The secondary aims were to evaluate the variation in the number of antiepileptic drugs, reasons for discontinuing the diet and adverse effects. Material and Methods: Retrospective analysis of clinical records of patients who underwent ketogenic diet for refractory epilepsy, from October 2007 to January 2018, in a tertiary pediatric hospital. Results: In the twenty-nine eligible patients, the mean age of initiation was 7.9 years-old (+/-5.6). Of those, 18 had a ≥ 50% reduction of seizure activity, 19 a marked behaviour improvement and 18 improved awareness. The median number of antiepileptic drugs remained equal for the 15 patients who completed 18 months of treatment (three drugs). The main reason for discontinuing ketogenic diet was a familiar decision. The main adverse effects were hypercholesterolemia (n = 23) and hypertriglyceridemia (n = 21). Discussion: Results were comparable to those of other cohorts, namely age of initiation, proportion of patients completing ketogenic diet, most frequent reasons for stopping and significant improvement of alertness and behavior. Conclusion: Beyond seizure control, patients experienced a marked improvement in behavior and awareness. It is necessary to develop strategies to increase the adherence of families to the diet. RESUMOIntrodução: A dieta cetogénica é uma dieta com baixo teor de hidratos de carbono, que pode ser usada no tratamento da epilepsia infantil refratária. O principal objetivo deste estudo foi avaliar a eficácia nos doentes que completaram pelo menos três meses de dieta, no que respeita ao controlo das crises, comportamento e estado de alerta. Foi também avaliada a variação do número de fármacos antiepiléticos, as razões de descontinuação e os efeitos secundários. Material e Métodos: Análise retrospetiva dos processos clínicos dos doentes com epilepsia refratária sob dieta cetogénica, de outubro de 2007 a janeiro de 2018, num hospital pediátrico de nível 3. Resultados: Nos 29 doentes elegíveis, a média da idade de implementação foi 7,9 anos (+/-5,6). Destes, 18 tiveram uma redução ≥ 50% das crises, 19 tiveram uma melhoria marcada do comportamento e 18 do seu estado de alerta. Dos 15 que completaram 18 meses, a mediana do número de fármacos antiepiléticos permaneceu idêntica à do início (três fármacos). A principal razão de descontinuação foi por decisão familiar. Os principais efeitos secundários foram a hipercolesterolémia (n = 23) e a hipertrigliceridémia (n = 21). Discussão: Os resultados foram semelhantes aos obtidos noutras coortes, nomeadamente no que respeita à idade de início, à percentagem de doentes que completou a dieta, às razões da suspensão e à melhoria do comportamento e estado de alerta. Conclusão: Para além do controlo das crises, os doentes tiveram u...

Introduction: Graves disease is characterized by the existence of autoantibodies directed to the thyrotropin receptor, which can have a stimulatory/inhibitory action, in women with the condition, their fetus or neonate. Our aim was to review the case series of these neonates in order to establish neonatal thyroid function predictors.Material and Methods: Retrospective cohort study of the database of the Department of Pediatric Endocrinology, including patients born to mothers with Graves’ disease, between 2002 and 2017. Clinical and biochemical data were collected from mothers and offspring.Results: Fifty newborns, from 46 women with a median of 3.5 years after diagnosis, were included. During all trimesters of pregnancy, more than half of women had positive autoantibodies directed to the thyrotropin receptor. Not every woman had a complete thyroid function evaluation every trimester. In 32 newborns, cord blood screening was done. During the neonatal period, there were three cases of hypothyroidism and two of hyperthyroidism. The mothers of these five newborns had higher levels of free thyroid hormones during the second trimester (p = 0.03). The level of antibodies directed to the thyrotropin receptor was significantly higher in the cord blood (p = 0.03) and in the first neonatal test (p = 0.03) of these dysthyroid newborns.Discussion: Our results reinforce the need for every pregnant woman with Graves’ disease to be subject to thyroid function and autoantibodies evaluation during every trimester, as well as the importance of evaluating these antibodies in cord blood.Conclusion: High levels of free thyroid hormones during the second trimester of pregnancy and antibodies directed to the thyrotropin receptor value in cord blood are predictors of dysthyroidism in neonates born from women with Grave’s disease.

Introduction: A new marker that correlates with nutritional recovery in Anorexia Nervosa would be of great value. Our study aimed to analyse the influence of Body Mass Index variations on serum ferritin levels in adolescents with Anorexia Nervosa followed up in a specialised consultation. Methods: We conducted a retrospective, observational, single-centre study in adolescents with Anorexia Nervosa evaluated between 2011 and 2019. Serum ferritin values ​​at baseline and during follow-up were analysed, together with the corresponding Body Mass Index (BMI) and Z-Score values. Further analytical data such as hematological and inflammatory markers were recorded. Results: The study included 53 adolescents with Anorexia Nervosa. Patients were found to have higher initial serum ferritin levels compared to the last, under treatment, assessed values (p<0.001). There was a significant increase in BMI and BMI Z-Score during follow-up (p<0.001), reflecting nutritional recovery. Analysing the variation of these values, we found a negative linear association between the variation of serum ferritin and the variation of BMI Z-Score (ß -0.1; R2 0,39; p<0,001). In analysing the change of BMI Z-Score and serum ferritin as a function of time, a linear regression model was used (ß -0,39; R2 0,12; p <0,001), showing that the quicker the recovery of BMI Z-Score, the faster the decrease in ferritin value. None of the patients presented anaemia, and in most cases, the other inflammatory markers remained normal. Conclusion: Serum ferritin could be of value in the evaluation of patients with Anorexia Nervosa in the absence of other diseases, in particular when other markers of malnutrition are normal.

Background Malignant peripheral nerve sheath tumors (MPNST) are rare soft tissue sarcomas and although less that 10% occur in the pediatric age, they are the most feared complication in the follow-up of Neurofibromatosis Type 1 (NF1) patients. NF1-children tend to have larger tumors and worse prognosis than non-NF1 patients. There is a lack of data regarding MPNST in pediatric populations with NF1, and the present work aims to characterize a Portuguese population of pediatric NF1 patients who developed a MPNST. Material and Methods Retrospective analysis of all NF1-pediatric patients diagnosed with MPNST between 2000 to 2021, from three centers in Portugal. Patient characteristics, treatment modalities and clinical outcomes were reviewed. Results 12 patients (6 males and 6 females) met the inclusion criteria. 7 had no family history of NF1. Median age at diagnosis was 14.1 years (range 10-18). 5 had been diagnosed previously with Plexiform Neurofibroma and were treated with selumetinib (2) and partial surgery (2). MPNSTs were mostly located in the retroperitoneum (7) and in the proximal lower limbs (2). Only 1 patient had a resectable tumor at diagnosis and 3 patients had metastatic disease. In the FDG-PET scan of evaluated patients (7), the mean maximum standardized uptake value of the main lesion was 6 (range 3.6-9.7).Neoadjuvant ifosfamide plus doxorubicin chemotherapy was used in 4 patients. The median overall survival in this population was 10.3 months (95% CI 0.1-20.6) 2 patients remain alive. Conclusion The prognosis of MPNSTs in NF1 pediatric patients is very poor. In a subset of patients, MPNSTs develop from known Plexiform Neurofibromas. Current surveillance ant treatment protocols need to be improved.

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