Background/purpose Multisystem inflammatory syndrome in children (MIS-C) is a potentially life-threatening condition occurring 2–6 weeks after Coronavirus disease 2019 (COVID-19) in previously healthy children and adolescents, characterized by clinical and laboratory evidence of multiorgan inflammation. We reported the case of a 6-year-old child presented with acute abdomen and then diagnosed with MIS-C. In addition, to better portray this new entity, we performed a systematic review of MIS-C gastrointestinal features and particularly on those mimicking surgical emergencies. Methods We described the clinical presentation, the diagnostic approach and the therapeutic outcomes of our MIS-C patient. Parallel to this, we conducted a systematic literature search using Google Scholar, PubMed, EMBASE, Scopus, focusing on gastrointestinal MIS-C. Results Our patient was initially assessed by the surgical team due to his query acute abdomen. Following the diagnosis of MIS-C with myocarditis, intravenous methylprednisolone (2 mg/Kg/day) and intravenous immunoglobulins (2 gr/Kg single infusion) were promptly started, leading to clinical improvement. According to our literature search, patients with MIS-C have a high rate of severe abdominal symptoms resembling surgical emergencies (appendicitis, obstruction, etc.) and a not negligible number of those patients have been surgically explored with variable findings. Conclusions We encourage pediatric surgeons in the upcoming months of COVID-19 pandemic to evaluate myocardial function prior to surgical abdominal exploration. In children with query acute abdomen, MIS-C should be promptly ruled out in order to avoid unnecessary surgeries that could worsen the already frail outcome of this new syndrome. Nevertheless, it should be considered that MIS-C might well encompass complications (e.g. appendicitis, segmental intestinal ischemia) which need swift surgical treatment.

Esophageal endoscopic images (A) Black oesophagus in a 13-year-old boy with type 2 diabetes. (B) Complete recovery of the oesophageal mucosa, except for mild circumferential scar striae (green arrow), after 1 month of treatment.

Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes. Methods: we report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency. Results: molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy. Conclusions: our results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the MTHFR gene.

Aim The aim of the present study was to analyse clinical data of children referred for disc battery ingestion in order to assess short‐ and long‐term reported injuries and to identify outcome predictors and trends, define the urgency of intervention and refine treatment guidelines. Methods The records of all children admitted to Santobono‐Pausilipon Children's Hospital, Naples, Italy for disc battery ingestion from January 2016 to December 2020 were retrospectively reviewed. Odds ratio were computed to assess the association between the different study variables and the rate of complications. Results We enrolled 118 children. Mild to major complications related to the ingested disc batteries were reported in 12/118 (10.2%) patients. Disc battery oesophageal retention, disc battery diameter >20 mm, together with age below 1 year and symptomatic presentation were the most important factors associated with poor clinical outcome. Conclusion Our data confirm that ingested disc batteries are a serious health hazard and require a timely and qualified medical evaluation. We have identified three predictors of outcome severity: oesophageal retention, large‐diameter cells and symptom onset. Disc batteries lodged beyond the oesophagus appear substantially harmless and we may support a more conservative approach.

Background Although inappropriate feeding has been suggested to play a role in the occurrence of BRUE, only anecdotal reports have been so far described. The main objective of our study was to objectively evaluate whether overfeeding may represent a risk factor for the occurrence of BRUE. Methods We enrolled 42 infants aged 0–6 months admitted for BRUE episodes and a same number of age- and sex-matched healthy infants, who served as controls. Data about feeding practices and auxological parameters of each enrolled infant were collected and analysed, along with clinical data about peri- and post-natal period. Main outcome measures were mean daily body weight gain, daily number of feedings and mean volume of feedings and average daily volume of feedings only for bottle-fed infants. Results The mean (± SD) daily body weight gain, the only available and reliable parameter to assess feeding adequacy in both breast- and formula fed infants, was 41 ± 15 grams in infants with BRUE vs 35 ± 11 grams in healthy infants (95% CI [0.21; 11.8], p = 0.042). Moreover, infants with BRUE were more likely than controls having received mixed breastfeeding, although this difference did not reach statistical significance (33% vs 17%, 95 CI [-0.04; 0.37], p = 0.131). Conclusions Overfeeding seems to be a risk factor for the occurrence of BRUE, either through milk inhalation and choking or through GER worsening. Detecting inappropriate feeding practices, and providing appropriate education to correct them, may help preventing the occurrence of BRUE produced by either scenarios.