Maurizio Torricelli

Esophageal atresia with proximal tracheoesophageal fistula: A missed diagnosis ☆ ☆☆ ☆☆☆ ★ ★★ ★★★

AIM OF THE STUDY This retrospective study was performed to compare the relative incidence of esophageal atresia (EA) with proximal tracheoesophageal fistula (PTEF) at our institution with those reported in literature and to test the hypothesis that our higher relative incidence is caused by the routine use of tracheoscopy. METHODS A total of 204 children with EA were managed at our institution from 1981 to 2012. The type of EA and the diagnostic assessment were noted, and the relative incidence of PTEF was calculated. For patients managed from 1981 to 2003 (Group 1), the PTEF was diagnosed by contrast esophagogram or during surgical repair. For those born after 2004 (Group 2), the final diagnosis was made by routine rigid tracheoscopy performed preoperatively. The relative incidence of PTEF was compared between these two groups and with those reported in 15 selected published large series, encompassing 4197 patients with EA. MAIN RESULTS Of 204 patients with EA, 10 had PTEF, with a relative incidence of 4.9%, statistically higher than those reported in reference group (1.14%, P<0.001). The routine employ of tracheoscopy involved a higher relative incidence of PTEF (Group 2=11.11%, Group 1=3.14%, P=0.038). The age of diagnosis of PTEF was 2.8 days for children of Group 2 and 4.2 days for Group 1 (P=0.038). CONCLUSION The presence of the proximal TEF should be always ruled out before surgery. Routine employ of rigid tracheoscopy avoids delay of the diagnosis, improves diagnostic accuracy, and involves a higher relative incidence of proximal fistul. This procedure should be recommended in children undergoing EA repair.

Barrett’s esophagus and Cornelia de Lange Syndrome

Aim:  To review the records of Cornelia de Lange Syndrome (CDLS) children, affected by Gastro‐oesophageal reflux disease (GERD), to detect the presence of Barrett’s Esophagus (BE).

The Role of Laparoscopy in Newborns Affected by NEC

INTRODUCTION For many years, laparoscopic procedures have been reported in the literature in pediatrics also. In this article, we report their experiences of the use of gasless laparoscopy in 8 newborns affected by necrotizing enterocolitis (NEC). MATERIALS AND METHODS From January 2007 to May 2008, 8 patients affected by stage 1-2 NEC were treated at the Department of Pediatric Surgery, Fondazione Policlinico Milan (Milan, Italy). Of those, 3 patients presented with a birth weight below 1.5 kg. RESULTS All patients were submitted at gasless laparoscopy. In 6 of 8 patients, a covered perforation was detected; in 5 cases, the perforation was on the posterior wall of the ascending colon, and in 1, a perforation of the transverse colon was detected. In these 6 of 8 patients, the procedure was converted to formal laparotomy, with colonic resection and primary anastomosis. In 2 of 8 patients, a diffuse necrotizing enteritis of the small bowel was reported, without evidence of perforation; two drains were placed and continued abdominal washout with antibiotics solution was maintained for 48 hours, associated with systemic therapy. All patients were maintained on systemic antibiotic therapy for 7 days with regression of sepsis; all patients survived and were discharged in good general condition. At follow-up of 3 months, none of the patients presented with complications. DISCUSSION We believe that the decision to perform a laparoscopy, despite the very low weight of the patient, was crucial in the management of nondetected perforation at X-ray. Retrospectively, laparoscopy would be the best option to define the presence of NEC without a perforation, which may only require washout of the cavity that can be also managed with this technique. CONCLUSIONS We believe that laparoscopy can be easily managed also in newborns and small for gestational age neonates, reducing the morbidity of laparotomy for suspicion of perforation in patients affected by NEC who do not respond to medical treatment.

Treating acid reflux disease in patients with Down syndrome: pharmacological and physiological approaches

Down syndrome (DS) is often accompanied by gastrointestinal disease, occurring mainly in early infancy and frequently requiring therapy. Among motility disorders, the most frequent is gastroesophageal reflux disease (GERD), which may often be misdiagnosed because of its atypical manifestations. Early diagnosis of esophageal functional disorders is essential to prevent respiratory problems, growth retardation in children, weight loss in adults, and to establish the correct type of surgery if needed. Furthermore, the involvement of the enteric nervous system in the pathophysiology of GERD in DS is not yet completely understood but seems supported by much evidence. In fact DS is often associated with motor disorders and this evidence must be considered in the choice of therapy: in particular all options available to improve motility seem to be effective in these patients. The effectiveness of therapy is strictly related to the rate of mental impairment, so that modulating therapy is essential, especially in view of the severity of the neurological status.

Thoraco‐abdominal asymmetry and asynchrony in congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) consists of an incomplete formation of the diaphragm and the subsequent herniation of abdominal bowels. Diaphragmatic defect can be repaired by primary closure or placing a patch. Respiratory follow up usually focuses on spirometric and clinical evaluation. The aim of the study was to assess thoraco‐abdominal volumes in CDH patients and to verify whether the action of the diaphragm on the chest wall is altered leading to an asymmetric and asynchronous expansion of the different thoracoabdominal compartments.

Peritoneal tuberculosis due to multidrug-resistant Mycobacterium tuberculosis.

The emergence of drug‐resistant Mycobacterium tuberculosis has been widely reported throughout the world, but there are very few data regarding children. We describe the case of a 14‐year‐old Peruvian adolescent who had been living in Italy since the age of 8 years and was diagnosed as having peritoneal tuberculosis (TB). While she was receiving first‐line anti‐TB therapy, she developed pyrazinamide‐associated thrombocytopenia and cultures revealed a multidrug‐resistant strain of Mycobacterium tuberculosis. Pyrazinamide, rifampicin and isoniazid were replaced by moxifloxacin, which was continued for 9 months together with ethambutol. The patient recovered without experiencing any drug‐related adverse event or the recurrence of TB in the following year. In conclusion, this case illustrates some of the problems that can arise when multidrug‐resistant TB has to be treated in children and adolescents, and also highlights the fact that further studies are needed to clarify which drugs should be used and for how long.

Delayed Meconium Passage in Very Low Birth Weight Infants

BACKGROUND Delayed meconium passage, typical of premature newborns, is a predisposing condition for bowel perforation with a significant risk of morbidity and mortality. AIM OF THE STUDY A retrospective study was undertaken to verify the entity of the disease, assess the average time to meconium passage in a neonatal population of very low birth weight (VLBW) infants, and identify associated risk factors. METHODS The time of first stool passage was studied in 110 VLBW infants (weighing less than 1500 g at birth). Their perinatal features, clinical course, and treatment were reviewed and studied retrospectively. RESULTS Delayed meconium passage was recorded in 81% of this group. Patent ductus arteriosus, mechanical ventilation and uteroplacental insufficiency were significantly associated with delayed passage. An inverse relationship between gestational age, birth weight and meconium passage was found. Bowel perforation occurred in 4.5% of this neonatal population with a mortality of 50%. CONCLUSIONS In very low birth weight infants delay in the passage of the first stool is common. Perforation in these patients may represent a fatal event, and procedures such as daily rectal enemas, which can prevent this complication, must be applied.

Do we need imaging to diagnose appendicitis in children

Background: To evaluate the role of clinical assessment with selective use of imaging studies in the management of suspected acute appendicitis in children. Patients and Methods: Medical records of children referred to Emergency Room in 2010 for suspected appendicitis were retrospectively reviewed. Diagnostic investigations divided by age and sex were related to pathological findings. Negative appendectomy and complication rates were calculated. Results: 923 children needed surgical assessment : i0 n 75.7% of them surgical indication was excluded and 24.3% were admitted to surgical ward for observation. Appendectomy was eventually performed in 137 patients (61.9%), 82.4% of them without any preoperative imaging while 17.6% underwent selective studies, mainly abdominal ultrasonography (14.6%). Imaging was requested twice as frequently in not operated admitted children (39.3%) than in the operated ones (17.5%, P < 0.001). Overall complicated appendicitis rate (peritonitis and abscess) resulted 26.4% and negative appendectomy rate 8.8%. Females older than 10 years presented histologically not-confirmed appendicitis in 22.2% of cases, while the younger ones presented more frequently complicated appendicitis (29.3%). Conclusions: Clinical assessment is the key to diagnose appendicitis. Nevertheless, in girls older than 10 years, selected use of imaging should be implemented to avoid unnecessary appendectomies. Imaging of choice in equivocal cases should be ultrasonography.

Duodenal Hematoma and Pancreatitis Complicating Endoscopic Intestinal Biopsy in a Boy with Noonan Syndrome

Duodenal intramural hematoma is a rare condition, mostly described in children and young adults that can be a complication of duodenal biopsy, especially in patients with predisposing hemorrhagic diathesis. It can determine secondary pancreatitis because of ampullary hematoma. Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical facial dysmorphisms, congenital heart defects and other anomalies such as bleeding problems which have been reported in up to 55% of patients. We herein report a case of duodenal hematoma with pancreatitis developed after endoscopic biopsy in a boy who was initially suspected of having celiac disease on the base of his short stature and growth retardation. Afterwards a more careful past medical history collection and objective examination revealed characteristic features of NS which could have been picked-up in advance, thus avoiding an investigation, such as the duodenal endoscopic biopsy, which in NS patient is potentially more risky.

PA18 EOSINOPHILIC ESOPHAGITIS: A CASE SERIES

Objective: To analyze the details of our clinical series of 15 children with eosinophilic esophagitis (EE), focusing the attention on the main clinical manifestations. and endoscopic features in order to better understand the diversity of the disease, thereby improving clinical diagnosis and treatment. Patients and methods: In the last 5 years, EE was diagnosed in 15 patients (11 males, age range 2-18 years, mean age 10.5 years). All patients underwent to an upper endoscopy with multiple biopsy specimens of the esophagus under conscious sedation. EE was defined as greater than 20 eosinophils per high power field after conventional anti-reflux treatment. All patients were tested for food allergies. Results: All studied patients were referred to our Unit after failure of antireflux therapy. The presenting symptoms were dysphagia (63%), vomiting (36%), food bolus impaction (20%), epigastric pain (18%) and chronic anemia (9%). Dysphagia and vomiting were the most common symptom, especially in the younger children, while food bolus impaction for esophageal stenosis occurred in 3 older patients. Endoscopic findings were always aspecific: normal esophagus in 6 cases (40%), low grade hyperemia in 5 (33%); high grade hyperemia in 1 (7%) and esofageal stricture in 3 (20%). The majority of allergic tests resulted negative. All patients were successively treated with swallowed corticosteroids. After 3-4 months, the corticosteroid was substituted by leukotriene receptor antagonists. Corticosteroid therapy was effective in all cases, with a rapid regression of symptoms in all children. However, after the suspension of medications, all children presented a recurrence of the disease, therefore were treated by montelukast as maintenance treatment. A mean follow-up of 2 years was based on periodical clinical evaluations and by repeated endoscopies and biopsies. Conclusions: EE is an emerging clinical entity, probably still underestimated, characterized by age-related symptoms. It has to be always ruled out in case of important clinical manifestations in the absence of a clear GERD condition, in order to avoid major esophageal complications. Montelukast offer benefit as maintenance treatment.