Classic ketogenic diet in parenteral nutrition in a GLUT1DS patient: Doing more with less in an acute surgical setting.

Ketogenic Dietary Treatments (KDTs) are to date the gold-standard treatment for glucose transporter type 1 (GLUT1) deficiency syndrome. Administration of KDTs is generally per os; however, in some conditions including the acute gastro-enteric post-surgical setting, short-term parenteral (PN) administration might be needed. We report the case of a 14-year-old GLUT1DS patient, following classic KDT for many years, who underwent urgent laparoscopic appendectomy. PN-KDT was required, after 1 day of fasting. No ad hoc PN-KDTs products were available and the patient received infusions of OLIMEL N4 (Baxter). On the sixth day postoperatively enteral nutrition was progressively reintroduced. The outcome was optimal with rapid recovery and no exacerbation of neurological manifestations. Our patient is the first pediatric patient with GLUT1DS in chronic treatment with KDT efficiently treated with exclusive PN for five days. This case reports on real-word management and the ideal recommendations for PN-KDT in an acute surgical setting.

Withdrawn: Parenteral Nutrition in a GLUT1DS Patient Following Classic Ketogenic Diet: Ideal versus Real-World Management in an Acute Surgical Setting.

Withdrawal: C Varesio et al., Parenteral Nutrition in a GLUT1DS Patient Following Classic Ketogenic Diet: Ideal versus Real-World Management in an Acute Surgical Setting, Journal of Parenteral and Enteral Nutrition 2022 (https://doi.org/10.1002/jpen.2361). The above article, published online on March 1st, 2022 in Wiley Online Library (wileyonlinelibrary.com), has been withdrawn by agreement between the journal Editor-in-Chief, Kelly A. Tappenden, PhD, RD, FASPEN, and Wiley Periodicals LLC. The article was published as the result of an administrative error.

Prenatal and accurate perinatal diagnosis of type 2 H or ductular duplicate gallbladder.

BACKGROUND: Double gallbladder is a rare biliary anomaly. Perinatal diagnosis of the disorder has been reported in only 6 cases, and in 5 of them the diagnosis was based on ultrasound imaging only. However, the ultrasound technique alone does not provide a sufficiently precise description of cystic ducts and biliary anatomy, an information that is crucial for a correct classification and for a possible future surgery. CASE PRESENTATION: At 21 weeks of gestational age of an uneventful pregnancy in a 38 year old primipara mother, a routine ultrasound screening detected a biliary anomaly in the fetus suggestive of a double gallbladder. A neonatal abdominal ultrasonography performed on postnatal day 2 confirmed the diagnosis. On day 12 the newborn underwent a Magnetic Resonance Cholangiopancreatography (MRCP) that clearly characterized the anatomy of the anomaly: both gallbladders had their own cystic duct and both had a separate insertion in the main biliary duct. CONCLUSIONS: We report a case of early prenatal suspected duplicate gallbladder that was confirmed by a neonatal precise diagnosis of a Type 2, H or ductular duplicate gallbladder, using for the first time 3D images of Magnetic resonance cholangiopancreatography in a newborn. An accurate anatomical diagnosis is mandatory in patients undergoing a possible future cholecystectomy, to avoid surgical complications or reoperations. Therefore, in case of a perinatal suspicion of a double gallbladder, neonates should undergo a Magnetic resonance cholangiopancreatography. A review of the Literature about this variant is included.

Infant Percutaneous Endoscopic Gastrostomy: Risks or Benefits?

BACKGROUND/AIMS: To present a single center's experience with percutaneous endoscopic gastrostomy (PEG) tube placement in infants. METHODS: Clinical records of infants who underwent PEG tube placement between January 2010 and December 2015 were reviewed. All patients underwent an upper gastrointestinal contrast study and an abdominal ultrasonography before the procedure. PEGs were performed with a 6-mm endoscope using the standard pull-through technique. Data regarding gestational age, birth weight, age and weight, days to feeding start, days to full diet, and complications were reviewed. RESULTS: Twenty-three patients were included. The most common indication was dysphagia related to hypoxic-ischemic encephalopathy. Median gestational age was 37 weeks (range, 24-41) and median birth weight was 2,605 grams (560-4,460). Patients underwent PEG procedures at a median age of 114 days (48-350); mean weight was 5.1 kg (3.2-8.8). In all patients but one, a 12-Fr tube was positioned. Median feeding start was 3 days (1-5) and on average full diet was achieved 5 days after the procedure (2-11). Six minor complications were recorded and effectively treated in the outpatient clinic; no major complications were recorded. CONCLUSIONS: PEG is safe and feasible in infants when performed by highly experienced physicians.

Follow-up of Congenital Diaphragmatic Hernia: Need for Routinary Assessment of Acid Gastroesophageal Reflux with pH-metry.

INTRODUCTION: We aim to assess gastroesophageal reflux (GER) in patients treated for congenital diaphragmatic hernia (CDH) and to determine whether a pH-metry investigation should be routinely performed in follow-up. MATERIALS AND METHODS: Twenty-four-hour pH-metry at 1 year was performed in all patients treated for CDH between January 2014 and April 2015 (Group 1). We compared pH-metry results to those of two other groups: children treated for esophageal atresia (EA) (Group 2) and normal babies presenting with typical symptoms (Group 3). All the pH-metric findings were analyzed and compared. Intra-group analysis was performed in Group 1. RESULTS: Group 1 consisted of 21, Group 2 of 24, and Group 3 of 21 patients. Mean pH-metry values for Groups 1, 2, and 3 were, respectively: reflux index (RI) 4.3, 5.1, and 3.9; total number of refluxes (NR) 79.5, 88.8, and 88.7; refluxes longer than 5' (R > 5) 1.7, 2.3, and 1.47; and longest reflux episode (LR) 11.4, 13.3, and 8.6. No significant differences were found between Group 1 and the others. Only two CDH patients presented with GER-related symptoms. Patch was associated with significantly higher RI (8.5 vs. 2.98, p = 0.03). The worse was the defect, the worse were the pH-metric results (RI: A3.09, B3.15, and C9.1). CONCLUSION: We believe that a routine GER assessment should be performed in all CDH patients regardless the presence of symptoms. LEVEL OF EVIDENCE: This is a Level II study.

Classification of Esophageal Strictures following Esophageal Atresia Repair.

INTRODUCTION: The aim of this study was to stratify anastomotic strictures (AS) following esophageal atresia (EA) repair and to establish predictors for the need of dilations. MATERIALS AND METHODS: A retrospective study on children operated on for EA between 2004 and 2014 was conducted. The stricture index (SI) was measured both radiologically (SIXR) and endoscopically (SIEND). A correlation analysis between the SI and the number of dilations was performed using Spearman's test and linear regression analysis. RESULTS: In this study, 40 patients were included: 35 (87.5%) presented with Gross's type C EA, 3 (7.5%) type A, 1 (2.5%) type B, and 1 (2.5%) type D. The mean follow-up time was 101 ± 71.1 months (range: 7.8-232.5, median: 97.6). The mean SIXR was 0.56 ± 0.16 (range: 0.15-0.86). The mean SIEND was 0.45 ± 0.22 (range: 0.15-0.85). Twenty-four patients (60%) underwent a mean of 2 endoscopic dilations (range: 1-9). The number of dilations was poorly correlated with SIXR, while significantly correlated with SIEND. Patients who did not need dilations had a SIEND < 0.33, patients who needed only one dilation had 0.33 ≤ SIEND < 0.44, and those with SIEND ≥ 0.44 needed two or more dilations. No significant association with other clinical variables was found. All patients were asymptomatic at the time of the first endoscopy. CONCLUSION: SIEND is a useful tool to classify AS and can represent a predictor of the need for endoscopic dilation. The role of the SIEND becomes even more important as clinical characteristics have a low predictive value for the development of an AS and the need for subsequent endoscopic esophageal dilatations.

Acid Gastroesophageal Reflux Disease and Apparent Life-Threatening Events: Simultaneous pH-metry and Cardiorespiratory Monitoring.

AIM: To investigate the prevalence and the characteristics of gastroesophageal reflux disease (GERD) in infants with apparent life threatening events (ALTE). MATERIALS AND METHODS: Infants with at least one episode of ALTE in absence of predisposing factors were included. All infants underwent a cardiorespiratory recording with simultaneous 24-hour pH-monitoring. Patients were divided into 3 groups according to the severity of GERD: A. Reflux Index (RI) <3%, B. RI = 3-7%, C. RI >7%. Monthly evaluations were performed and the anti-reflux therapy was maintained till normalization of monitoring and clinic. RESULTS: 41 infants were enrolled. GERD was found in 80% of patients (moderate in 54%, severe in 27%). A normalization of the cardiorespiratory tracks was recorded on average after 1 month for group A, 7 months for the group B and 9.5 months for group C. A significant difference was registered between group A and both group B and C (P < 0.0001), as well as between the group B and C (P < 0.05). CONCLUSION: GERD influences significantly the time of normalization of the cardiorespiratory monitoring in infants with ALTE. GERD diagnosis and treatment are mandatory in these patients.

Endoscopic Surveillance for Congenital Diaphragmatic Hernia: Unexpected Prevalence of Silent Esophagitis.

Introduction Gastroesophageal reflux disease (GERD) is a frequent comorbidity after congenital diaphragmatic hernia (CDH) repair. Our aim was to evaluate the clinical and endoscopic prevalence of esophagitis in a long-term follow-up of CDH patients. Materials and Methods Patients operated on for posterolateral CDH and undergoing general anesthesia for concomitant pathologies between January and October 2013 were included in the study. GERD was investigated both clinically (Manterola questionnaire) and endoscopically. The severity of esophagitis was evaluated according to the Hetzel-Dent classification and multiple biopsies were performed. The correlation between clinical score and severity of esophagitis was evaluated. Results Twelve patients were included in the study (mean age: 14.5 years; range, 9-18 years). Only three children (25%) had a pathological questionnaire. At endoscopy, three children (25%) were affected by grade 1 esophagitis, six (50%) by grade 2, two (17%) by grade 3, and one (8%) by grade 4. One of the children presented Barrett esophagus. A moderate negative correlation was found between clinical data and endoscopic findings (r: -0.54 and p: 0.067). Conclusion Even in the absence of symptoms, esophagitis revealed to have a high prevalence in CDH patients. A long-term clinical and instrumental follow-up is mandatory to early diagnose and treat GERD.

Anorectal malformations with good prognosis: variables affecting the functional outcome.

BACKGROUND/PURPOSE: The purpose of this study was to investigate the outcome of patients operated for anorectal malformations (ARMs) with good prognosis. METHODS: Thirty patients underwent clinical evaluation by Rintala score and anorectal manometry recording anal resting pressure (ARP), rectoanal inhibitory reflex (RAIR), and rectal volume (RV). The results were analysed with regard to sex, type of ARM, surgical timing of posterior sagittal anorectoplasty (PSARP), neurospinal cord dysraphism (ND), neonatal colostomy, and institution where they underwent surgery. RESULTS: 6/30 (20%) presented ND despite normal sacrum. 17/30 (57%) patients had a normal Rintala score. ND and neonatal colostomy were significantly associated with a pathologic score (p=0.0029 and p=0.0016). Patients with ND had significantly lower ARP compared to patients with normal spine (23.5±7.2mmHg vs 32±7.9mmHg, p=0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22±10.24mmHg vs 32.57±6.68mmHg, p=0.026). RAIR was present in only 2/6 (33%) patients with ND, while in 21/24 (87.5%) without ND (p=0.015) and in 4/9 (44%) patients with neonatal colostomy, while in 19/21 (90.5%) patients submitted to primary repair (p=0.014). CONCLUSIONS: Neurospinal cord dysraphism may be present despite normal sacral ratio. From a clinical point of view, patients with good prognosis ARMs are not completely comparable to healthy children. Neurospinal cord dysraphism and neonatal colostomy seem to worsen the clinical and manometric (ARP and RAIR) outcomes of these patients.

Oral viscous budesonide as a first-line approach to esophageal stenosis in epidermolysis bullosa: an open-label trial in six children.

BACKGROUND: Esophageal and pharyngeal problems are common in the majority of patients with epidermolysis bullosa (EB). Repeated blister formation and ulceration, coupled with chronic inflammation, result in scarring and development of esophageal strictures. OBJECTIVE: This study aimed to evaluate whether oral viscous budesonide (OVB) was useful for treating esophageal structures in six pediatric patients (aged 8-17 years) with EB who were affected by dysphagia and esophageal strictures. METHODS: Patients were treated for 4 months with twice-daily oral budesonide nebulizer solution 0.5 mg/2 mL mixed with maltodextrin 5 g and artificial sweeteners. RESULTS: One patient developed a severe oral mycotic infection and discontinued treatment. The other five patients completed the treatment regimen and displayed significantly lower stricture indices (SIs) post-treatment (mean SI ± standard deviation 0.736 ± 0.101 pre-treatment versus 0.558 ± 0.162 post-treatment; p = 0.008). Patients experienced a mean SI decrease of 0.178 (range 0.026-0.296), as well as improved dietary habits in the absence of side effects. CONCLUSION: These findings indicated that topical corticosteroids may significantly alleviate strictures in pediatric patients with EB, thereby limiting the need for endoscopic dilation and considerably improving patients' quality of life.

Supra-transumbilical laparotomy (STL) approach for small bowel atresia repair: our experience and review of the literature.

BACKGROUND: Supra-Transumbilical Laparotomy (STL) has been used in paediatric surgery for a broad spectrum of abdominal procedures. We report our experience with STL approach for small bowel atresia repair in newborns and review previous published series on the topic. PATIENTS AND METHODS: Fourteen patients with small bowel atresia were treated via STL approach at our Institution over a 5-year period and their charts were retrospectively reviewed. RESULTS: STL procedure was performed at mean age of 3.1 day. No malrotation disorders were detected with pre-operative contrast enema. Eight patients (54.1%) presented jejunal atresia, five (35.7%) ileal atresia, and one (7.1%) multiple ileal and jejunal atresias. Standard repair with primary end-to-back anastomosis was performed in all but one patient. In the newborn with multiple atresia, STL incision was converted in supra-umbilical transverse incision due to difficulty of exposition. After surgery, one patient developed anastomotic stricture, and another developed occlusion due to adhesions: Both infants required second laparotomy. No infections of the umbilical site were recorded, and cosmetic results were excellent in all patients. CONCLUSIONS: Increasing evidence suggests that STL approach for small bowel atresia is feasible, safe and provides adequate exposure for small bowel atresia surgery. When malrotation and colonic/multiple atresia are pre-operatively ruled out, STL procedure can be chosen as first approach.