Context: Epilepsy is one of the most prevalent neurological disorders in childhood. Antiepileptic drugs are the preferred treatment. However, 30% of children continue suffering seizures. A ketogenic diet (KD) is one of the emerging alternative treatments. Objective: This review aims to analyze the current evidence regarding the use of a KD for the treatment of refractory epilepsy (RE) in childhood. Data Sources: A systematic review of reviews was performed, based on MEDLINE (PubMed) as at January 2021. Data Extraction: The data extracted included the first author’s last name; the year of publication; the country; the study design; the population; the diagnosis, concept, and description of KD types; and major outcome. Results: Twenty-one reviews were included, 8 with systematic methodology (2 of them included a meta-analysis) and 13 with unsystematic methodology. The main difference between the 2 types of reviews is the reproducibility of their methodology. Therefore, the results of each type of review were analyzed separately. Each type of review described 4 categories of KD: classic KD, modified Atkins diet (MAD), use of medium-chain triglycerides (MCTs), and low glycemic index treatment (LGIT). In terms of effectiveness, the considered systematic reviews reported reductions in the frequency of seizures greater than 50% in about half of the patients. Reviews without systematic methodology reported that 30%–60% of the children showed a 50% or greater reduction in seizures. The most frequently described adverse effects in the 8 systematic reviews were: vomiting (6/8), constipation (6/8), and diarrhea (6/8); and in the unsystematic reviews: vomiting and nausea (10/13), constipation (10/13), and acidosis (9/13). Conclusion: KD can be an effective treatment for RE, with a more than 50% reduction in the frequency of seizures and cognitive improvement being achieved in half of the pediatric patients. The effectiveness of the various types of KD is comparable, and the KD can be adapted to the needs of the patient. Systematic Review Registration: PROSPERO registration no. CRD42021244142.

Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management of pediatric sarcoma patients. We studied 53 pediatric and young adult patients diagnosed with sarcoma, from two Spanish centers. Genomic data were obtained using the Oncomine Childhood Cancer Research Assay, and categorized according to their diagnostic, predictive, or prognostic value. In 44 (83%) of the 53 patients, at least one genetic alteration was identified. In 80% of these patients, the diagnosis was obtained (n = 11) or changed (n = 9), and thus genomic data affected therapy. The most frequent initial misdiagnosis was Ewing’s sarcoma, instead of myxoid liposarcoma (FUS-DDDIT3), rhabdoid soft tissue tumor (SMARCB1), or angiomatoid fibrous histiocytoma (EWSR1-CREB1). In our series, two patients had a genetic alteration with an FDA-approved targeted therapy, and 30% had at least one potentially actionable alteration. NGS-based genomic studies are useful and feasible in diagnosis and clinical management of pediatric sarcomas. Genomic characterization of these rare and heterogeneous tumors also helps in the search for prognostic biomarkers and therapeutic opportunities.

Rothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.

Objective. The COVID-19 pandemic has caused a variation in the circulation of respiratory pathogens. Our aim was to analyze the epidemiology of severe acute respiratory infections (SARI) in children during 3 years of the COVID-19 pandemic, in comparison with a previous period. Patients and Methods. An observational study was conducted in a tertiary hospital in Spain, which analyzed the frequency and characteristics of patients admitted for SARI in the Pediatric Intensive Care Unit (PICU) during the COVID-19 pandemic (1 March 2020 to 28 February 2023), compared to pre-pandemic period (1 March 2017 to 29 February 2020). Results. A total of 268 patients were included (59.6% males). The median age was 9.6 months (IQR 1.7 – 37). In the pre-pandemic period, there were 126 admissions with an average of 42 admissions/year. During the pandemic, there were 142 admissions, observing a significant reduction in admissions in the first year (12 admissions/year), in contrast to 82 admissions during the third year, which represented an increase of 95% compared to the average of admissions/year in pre-pandemic. In addition, in the last year there was evidence of an increase in viral coinfections in relation to pre-pandemic period (54.9% vs 39.7%; p=0.032). There were no differences in length of hospital stay or PICU stay. Conclusions. During the last year, coinciding with low rates of hospitalization for COVID in Spain, we observed a notable increase in admissions to the PICU for SARI. Probably, the prolonged period of low exposure to pathogens due to the measures adopted during the pandemic might have caused a decrease in population immunity with a rise in severe respiratory infections.