One of the most important causes of portal hypertension among children is extrahepatic portal vein thrombosis (EHPVT). The most common risk factors for EHPVT are neonatal umbilical vein catheterization, transfusions, bacterial infections, dehydration, and thrombophilia. Our study aimed to describe the clinical manifestations, treatment, evolution, and risk factors of children with EHPVT. Methods: We analyzed retrospectively all children admitted and followed in our hospital with EHPVT between January 2011–December 2020. The diagnosis was made by ultrasound or contrast magnetic resonance imaging. We evaluated the onset symptoms, complications, therapeutic methods, and risk factors. Results: A total of 63 children, mean age 5.14 ± 4.90 (33 boys, 52.38%), were evaluated for EHPVT during the study period. The first symptoms were upper gastrointestinal bleeding (31 children, 49.21%) and splenomegaly (22 children, 34.92%). Thrombocytopenia was present in 44 children (69.84%). The most frequent risk factors were umbilical vein catheterization (46 children, 73.02%) and bacterial infections during the neonatal period (30 children, 47.62%). Protein C, protein S, antithrombin III levels were decreased in 44 of the 48 patients tested. In 42 of these cases, mutations for thrombophilia were tested, and 37 were positive. Upper digestive endoscopy was performed in all cases, revealing esophageal varices in 56 children (88.89%). All children with gastrointestinal bleeding received an octreotide infusion. In 26 children (41.27%), variceal ligation was performed, and in 5 children (7.94%), sclerotherapy. Porto-systemic shunt was performed in 11 children (17.46%), and Meso-Rex shunt was done in 4 children (6.35%). The evolution was favorable in 62 cases (98.41%). Only one child died secondary to severe sepsis. Conclusions: EHPVT is frequently diagnosed in the last period in our region due to the increased use of umbilical vein catheterization. Furthermore, genetic predisposition, neonatal bacterial infections, and prematurity certainly play an important role in this condition. A proactive ultrasound assessment of children with risk factors for EHPVT should be encouraged for early diagnosis and treatment.

The diagnosis and monitoring of Crohn's disease (CD) represents a diagnosis challenge in which imaging plays an important role. In the present paper we aim to demonstrate the role of sonoelastography (SE), performed in addition to hydrosonography (HS), in the evaluation of CD in children and to propose a scoring system for the appreciation of disease activity. All the patients included into the study were diagnosed with CD and had underwent HS and SE as part of the imaging evaluation. In selected cases magnetic resonance enterography (MRE) was also performed. SE aspects were classified into three types, each corresponding to a specific bowel wall pattern: normal or remission (type A), inflammation (type B) and fibrosis (type C); this classification represents the basis of the scoring system. For the purpose of statistical analysis each evaluated bowel segment became an individual case. Forty eight bowel segments were evaluated by SE: 21 type A, 20 type B and 7 type C. Statistically significant correlations were found between the intestinal wall HS changes, presence of complications, activity markers and the SE score. The HS assessment of the periintestinal area correlated only partially with SE score, while certain SE scores also proved to be predictors for the presence of complications or for increased values of the disease activity markers. SE, along with HS, represents a reliable investigation in the correct diagnosis and monitoring of pediatric patients with CD and the SE scoring system may be introduced as a method for the assessment of disease activity.

Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.

Aim: To evaluate the value of abdominal ultrasonography (US) in the follow-up of paediatric patients with ulcerative colitis (UC) compared to faecal calprotectin (FC) and colonoscopy. Material and method: In this retrospective study we enrolled 30 paediatric patients previously diagnosed with UC, examined by abdominal US and colonoscopy within the same week. FC was also determined during the same week. Disease activity was established using the paediatric ulcerative colitis activity index (PUCAI). The global endoscopic activity was evaluated using the Mayo endoscopic subscore. Results: Endos-copy revealed pathological findings of active disease in 27 out of 30 patients; 3 patients were in endoscopic remission. Only 18 of them had clinical active disease (PUCAI >10), [sensitivity (Se) 66.7% and specificity (Sp) 33% of PUCAI in detecting endoscopic active disease). Twenty-three (76.7%) patients had FC >250 mcg/g, but in 2 of these cases the colonoscopy was normal (Se 77.8% and Sp 33.3% in detecting active disease). At US examination, pathological findings (increased bowel wall thickness, hypervascularity, lymphadenopathies, and/or mesenteric inflammatory fat) were found in 27 patients (90%), all with endoscopic active disease (agreement US - colonoscopy, at patient level, k=1.0, p<0.001, Se 100% and Sp 100%). At seg-ment level (totally 180 bowel segments examined by US), the overall agreement between US and colonoscopy was k=0.767, p250 mcg/g (85.1%). The inter-observer agreement for the US measurements had an overall ICC of 0.926 with p<0.001. Conclusion: Abdominal US findings demonstrate a good to excellent concordance with endoscopic examination and are correlated with elevated FC levels. Therefore, US appears as an accurate technique in assessing activity in patients with UC and might replace colonoscopic evaluation for the follow-up.