Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein–Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but without the specific phenotype of RTS. Material and Methods: A review of the available literature was conducted, aimed at underscoring the difficulties in diagnosing MHS based on phenotype particularities. Results: Five applicable studies were identified by searching PubMed, Web of Science, and Scopus databases for publications up to November 2021 using the key terms “Menke–Hennekam syndrome” and “CREBBP”. Conclusions: In this paper, we present a new case and highlight the importance of exome sequencing to identify different mutations of exons 30 and 31 of the CREBBP gene involved in MHS, and we make formal recommendations based on our literature review.

Clinical characteristics of rotavirus enteritis were evaluated by comparison with acute diarrhea of other etiologies. We reviewed the medical records of children (aged 0-12 months) admitted with acute diarrhea in our hospital between January and December 2011. Of the 839 patients, 49.3% had rotavirus diarrhea. The incidence of severe disease was significantly higher for rotavirus diarrhea (65.2%, P < 0.01) than for other types of diarrheal disease.

Introduction. Infestation with the roundworm Ascaris lumbricoides is one of the most prevalent helminthic diseases belonging to the soil-transmitted helminths class. Infections are especially affecting children in tropical countries and low and middle-income countries but also may occur in developing countries where sanitation and hygiene are poor. We aim to present a case report to sound the alarm on this widespread pathology. Case presentation. We report the case of a 9-year-old boy with Down syndrome and duodenal stenosis admitted to our hospital with recurrent bouts of pancreatitis secondary to ascariasis. Child is living in poor sanitation conditions. The first episode of pancreatitis was at the age of seven. The abdominal ultrasound shows enlargement and heterogeneity of the head and body of the pancreas, and multiple images of "the strip sign" in the duodenum, suggesting the presence of Ascaris lumbricoides. Live worms were expelled several times. During the next two years, this child was admitted for similar episodes suggesting re-infection with the soil-transmitted helminths, repeated courses of albendazole were administered to the patient and to his close relatives contact. Conclusions. Ascaris lumbricoides infection is rarely a direct cause of mortality, but it contributes to overwhelming morbidity. Periodically repeated de-worming treatment and additional preventive measures such as improvements to water, sanitation and hygiene (WASH) could ensure high rates of eradication.

(1) Background: Functional abdominal pain disorders (FAPDs) represent one of the main etiologies of chronic abdominal pain in the pediatric population. A wide spectrum of probiotic or prebiotic mixtures has been evaluated in trials regarding benefits in patients with FAPDs, mainly in the adult population. (2) Methods: This study was interested in evaluating the effect of oral supplementation with a symbiotic mixture on intestinal microbiota in children with functional dyspepsia (FD), irritable bowel syndrome with diarrhea (IBS-D), and irritable bowel syndrome with constipation (IBS-C). A combination of six bacterial strains (Lactobacillus rhamnosus R0011, Lactibacillus casei R0215, Bifidobacterium lactis BI-04, Lactobacillus acidophilus La-14, Bifidobacterium longum BB536, Lactobacillus plantarum R1012) and 210 mg of fructo-oligosaccharides-inulin were administered orally, daily, for 12 weeks and patients were scored for severity of symptoms and fecal microbiota before and after the treatment. (3) Results: The proportion of patients with adequate symptom relief was higher in the IBS-D than in the IBS-C group; however, the difference was not statistically significant (74.4% vs. 61.9%, p = 0.230). There was an increasing proportion of bacterial genera associated with health benefits, for both IBS-C and IBS-D (IBS-C: 31.1 ± 16.7% vs. 47.7 ± 13.5%, p = 0.01; IBS-D: 35.8 ± 16.2% vs. 44.1 ± 15.1%, p = 0.01). (4) Conclusions: Administration of a symbiotic preparation resulted in significant changes to the microbiota and gastrointestinal symptoms in patients with FAPDs.