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.

Functional diarrhoea (FD) is a common cause of persistent diarrhoea in the first years of life. Prebiotics might improve symptoms acting through gut microbiota. The aim of the study was to evaluate the number and severity of acute episodes of diarrhoea in children with FD receiving a combination of oligofructose and inulin. A total of 54 patients were initially included (n = 23 controls, n = 31 treatment). There was a significant improvement in the treatment group (group A) when compared with control group (group B), revealed in number of acute episodes (1.17 vs. 4.5, p < 0.001) and duration of acute episodes (2.7 vs. 8.9 days, p < 0.001). The average duration of antibiotic use was higher in the second group control (average: 7 days; IQR: 3 -12) compared with treatment group (3 days; IQR: 2.5 -4.5; p = 0.025). In conclusion, a combination of oligofructose and inulin supplementation in children with FD is effective, but further studies need to be performed. RezumatDiareea funcțională (DF) este o cauză frecventă de diaree persistentă în primii ani de viață. Prebioticele pot influența simptomele acestei afecțiuni prin acțiunea asupra microbiotei intestinale. Scopul acestei lucrări a fost de a evalua numărul și severitatea episoadelor acute de diaree la copiii cu DF ce primesc o combinație de oligofructoză și inulină. Un total de 54 pacienți au fost inițial incluși în studiu (n = 23 grup control, n = 31 grup tratament). S-a înregistrat o îmbunătățire semnificativă la grupul tratat (grup A) față de grupul control (grup B) atât în ceea ce privește numărul episoadelor acute (1,17 vs. 4,5, p < 0,001) cât și durata acestora (2,7 vs. 8,9 days, p < 0,001). Durata medie de utilizare a antibioticelor a fost mai mare la grupul B-control (medie: 7 days; intervalul intercuartilic (IQR): 3 -12) în comparație cu grupul tratat (3 zile; IQR: 2,5 -4,5; p = 0,025). În concluzie, o combinație de oligofructoză și inulină administrate ca suplimente alimentare la copiii cu diaree funcțională este eficientă, dar studii suplimentare sunt necesare.

Chronic palatal and nasopharyngeal inflammations are common lesions in pediatric pathology, with major effects on children’s development. The study included 34 cases of chronic tonsillitis and adenoiditis for which we quantified immunohistochemically and analyzed the distribution of inflammatory elements in the follicular, extrafollicular and epithelial compartments, in relation to the composite histological scores and the clinico-epidemiological profile of the lesions. The cases were more frequent under the age of 10, in female patients, coming from urban areas, with the diagnosis of tonsillitis. B-lymphocytes have been associated with follicular areas in tonsillitis and epithelial areas in adenoiditis. In all compartments, T-lymphocytes were more frequently associated with tonsillitis and plasma cells associated with adenoiditis. Macrophages and dendritic cells had a relatively uniform distribution for the three compartments in all cases. The results obtained indicate different inflammatory phenotypes for chronic tonsillitis and adenoiditis, an aspect that may be useful for stratifying patients for optimal therapy.

Drug-induced liver injury (DILI) is uncommon but potentially lethal. Over 6 years, 2533 children with acute liver disease were identified in our center, 48 of which suffered from toxic hepatitis, and 40 exhibited DILI (22 paracetamol-related, 14 albendazole-related). The most affected children were in the 13–17-year-old age group. The mean time between drug ingestion and disease diagnosis was 25.4 h for paracetamol-related DILI and 21.6 days for the albendazole-related group. Clinical features were mostly gastrointestinal, jaundice being reported in 30% of the cases. Regarding the type of liver injury, for 70% of the patients it was hepatocellular (mostly paracetamol toxicity), for 11% cholestatic, and for 19% mixed (albendazole-related). The mean initial ALT value was 1020 U/L for all DILIs. Coagulopathy was only identified for the acetaminophen-related group. The median number of hospitalization days was 6.9 for DILI related to acetaminophen ingestion, compared with 7 for the idiosyncratic pattern. When applying the DILI severity index, 81% of the patients were categorized as having a mild hepatic ailment, while 19% had a moderate–severe or severe disease. No deaths were reported in the study group. The diagnosis of DILI involves the exclusion of other causes of liver injury; therefore, it is considered one of the most challenging diagnoses in hepatology.

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.

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Chronic viral hepatitis has been incriminated for inducing autoimmune events, but it is a known fact that interferon-based therapies also promote autoimmunity. We conducted an observational prospective study which included 114 pediatric patients with chronic viral hepatitis B and C. The patients were divided in 2 groups, the first group consisted of treatment-naive patients; the second group included patients who had received interferon-based therapy. We aimed to determine whether the ones who received treatment are more predisposed to developing autoimmune manifestations when compared to those naive. Fifty percent of the study group was found to have serological autoimmune phenomenon. Our research shows that the occurrence of the autoimmune phenomenon is delayed when the patient is treated with interferon-based regimens when compared to naive patients. Hence, even though interferon treatment has been reported to promote autoimmunity, the viruses themselves are more likely to induce the appearance of autoimmune markers over time in patients who do not receive treatment.