Background Esophageal and pharyngeal problems are common in the majority of patients with epiderm... more 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 twicedaily 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.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/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 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, 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.
Congenital diaphragmatic hernia (CDH) is a rare malformation characterized by a defect in the dia... more Congenital diaphragmatic hernia (CDH) is a rare malformation characterized by a defect in the diaphragmatic development allowing abdominal viscera to herniate in the chest and it is associated with pulmonary hypoplasia and hypertension. Gastroesophageal reflux disease (GERD) is one of the most frequent comorbidities in these patients, with a prevalence up to 81% of cases. 2 The current follow-up protocols suggest investigating GERD only in presence of symptoms, 3 but little is known about asymptomatic patients. Recently, some studies concerning the consequences of reflux esophagitis in CDH patients have been reported, showing an incidence of esophagitis of approximately 54%, some cases of Barrett esophagus and one case of esophageal adenocarcinoma. The primary aim of our study was to evaluate the prevalence of reflux esophagitis and the correlation with clinical signs in a long-term follow-up of patients with CDH, considering both the clinical manifestations and endoscopic findings. The secondary aim was to identify potential neonatal predisposing factors for GERD development.
Background: Supra-Transumbilical Laparotomy (STL) has been used in paediatric surgery for a broad... more 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, fi ve (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 diffi culty 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 choosen as fi rst approach.
To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (... more To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (CDH) by fetoscopic endoluminal tracheal occlusion (FETO). Between 2012 and 2014, FETO was performed at our center in 21 cases of CDH considered to be severe based on sonographic measurement of observed/expected lung-to-head ratio (O/E LHR) and side of the defect. We reported pre- and postoperative ultrasound findings, procedure-related complications, pregnancy outcome and survival at 1-3 years of age. The median gestational age (GA) at balloon insertion was 28.1 weeks (range 26.0-31.1) and the median GA at delivery 34.7 weeks (range 31.6-39.0); delivery before 32 and 34 weeks occurred in 2 (9.5%) and 7 (33.3%) cases, respectively. Postnatal survival at 1-3 years of age in the 17 cases with isolated unilateral CDH was 47.1%. The percentage difference between pre-balloon removal O/E LHR and pre-FETO O/E LHR was significantly higher in survivors compared to neonates who died (40.8 vs. 21.2%...
La Pediatria medica e chirurgica : Medical and surgical pediatrics
An unusual case of macroscopic hematuria in a 14 year old boy is presented. At the time of the fi... more An unusual case of macroscopic hematuria in a 14 year old boy is presented. At the time of the first hospital admission, no urinary tract infection could be demonstrated, in spite of the associated symptoms of stranguria and dysuria. At ultrasound examination, only a mild thickening of the upper bladder wall was detected, and cystoscopy showed a huge oedema and inflammation of the mucosal layer. The biopsy of the bladder was characterized by a definite eosinophilic infiltration; due to this particular hystologic pattern, the diagnosis of eosinophilic cystitis was made. In the following months, the boy did not improve. Recurrent hematuria occurred, and a pseudo-polypoid mass in the inner bladder wall was detected at ultrasonography. A limited resection of the vesical dome was performed, to remove completely the mass. The hystologic examination showed Schistosoma Haematobium eggs in the bladder wall, with a typical granulomatous reaction. The post-operative course was uneventful, and ...
We report an extremely rare case of extrarenal testicular Wilms' tumor in a 3-year-old boy with i... more We report an extremely rare case of extrarenal testicular Wilms' tumor in a 3-year-old boy with intrabdominal undescended left testis. The patient was admitted because of pain and vomiting, with evidence of a huge abdominal mass. At surgery a large tumor arising from the intrabdominal testis was found. Histology showed the classical triphasic Wilms' tumor elements: epithelial, mesenchymal and blastemal areas. Extrarenal Wilms' tumors account for only 3 % of all Wilms' tumors and just *100 cases have been reported in literature. Testicular origin is anecdotic. We present histomorphological, histogenetic, clinical, diagnostic, prognostic and therapeutic features of this rare tumor.
Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal ma... more Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.
Journal of Laparoendoscopic & Advanced Surgical Techniques, 2008
Blunt abdominal trauma is the most common cause of pancreatic injury in children. Laparoscopic di... more Blunt abdominal trauma is the most common cause of pancreatic injury in children. Laparoscopic distal pancreatectomy in a child with complete duct disruption has not been reported in the literature in children, although it has been well described in adults. In this paper report a case of a 7-year-old male, with grade 4 pancreatic trauma, who was treated nonoperatively in the acute phase and subsequently by laparoscopic distal pancreatectomy 3 months after the trauma. Although in adults the surgical management of grade 3-4 pancreatic traumatic injury is well described, including the laparoscopic approach, no report of laparoscopic distal pancreatectomy was found in the literature. We would like to emphasize the importance of using a conservative management in the acute phase of pancreatic injury, including grade 4 injuries. After this phase, the use of the high-definition computed tomography scan and endoscopic retrograde pancreatography were fundamental. Magnification of laparoscopic technique allowed us to identify the structures much better than open surgery.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, Jan 14, 2016
Purpose The objective of this study was to investigate the current practices of anal dilations af... more Purpose The objective of this study was to investigate the current practices of anal dilations after anorectal reconstruction for anorectal malformations (ARMs) in different centers. Materials and Methods An online survey, consisting of 27 questions about the practice of anal dilations, was launched in March 2015 among 54 pediatric surgeons with expertise in colorectal surgery. The survey was divided into three sections. The first section included questions regarding the country of origin, the role in the department, the average number of ARM cases treated per year, and the surgical approach used to repair ARMs. The second section was accessible only for surgeons who perform anal dilations and enquired about their modality of performing anal dilations-their attitude toward complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations-and about the incidence of rectal prolapse and/or anal stenosis, which required surgical repair, in their series o...
Background: Posterior reversible encephalopathy syndrome is a potentially reversible clinicoradio... more Background: Posterior reversible encephalopathy syndrome is a potentially reversible clinicoradiologic syndrome characterized by headache, mental confusion, visual disturbances and seizures associated with posterior cerebral lesions on radiological imaging. Prompt treatment of this condition is mandatory to avoid severe irreversible complications. Case presentation: We report a 9-year-old boy with arterial hypertension and headache as unique clinical presentation of posterior reversible encephalopathy syndrome. Conclusions: Severe and isolated headache associated with arterial hypertension can be the unique clinical presentation of posterior reversible encephalopathy syndrome. This syndrome must be considered even in absence of all typical symptoms to prevent the progression of a potentially life threatening condition.
To suggest a classification, describe the risk factors and management of rectal prolapse after an... more To suggest a classification, describe the risk factors and management of rectal prolapse after anorectoplasty for anorectal malformations (ARMs). We classified prolapse as minimal (rectal mucosa visible with Valsalva manoeuvre), moderate (prolapse <5 mm without Valsalva), evident (>5 mm without Valsalva) and compared patients with and without prolapse within our ARM-population. Among 150 patients, 40 (27 %) developed prolapse: 25 minimal, 6 moderate, 9 evident. Prolapse affected 33 % of males (9 % of perineal fistulas, 38 % of bulbar, 71 % of prostatic, 60 % of bladder neck and 13 % without fistula) and 21 % of females (9 % of perineal, 30 % of vestibular, 50 % of cloacas, and 25 % without fistula). Risk factors for prolapse were: tethered cord (40 vs 24 %), vertebral anomalies (39 vs 24 %), laparoscopic-assisted anorectoplasty (LAARP) (75 vs 25 %), and colostomy at birth (49 vs 9 %). Redo anorectoplasty was not associated with prolapse. Symptoms were present in 11 patients (28 %): in 7 % with minimal, 33 % with moderate and 77 % with evident prolapse. Nine patients (2 moderate, 7 evident) underwent surgical correction. Severe ARMs, tethered cord, vertebral anomalies, colostomy, and LAARP predispose to rectal prolapse. Classifying prolapse allows to predict symptoms and need for surgical correction, and to compare outcomes among different centers.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/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 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, 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.
Down syndrome (DS) is often accompanied by gastrointestinal disease, occurring mainly in early in... more 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.
Although appendicitis is the condition that most commonly requires emergent abdominal surgery in ... more Although appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment.
To review the records of Cornelia de Lange Syndrome (CDLS) children, affected by Gastro-oesophage... more 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). A total of 62 CDLS patients were investigated for GERD (1 month-35 years). In all of them a pH-metry, an upper endoscopy with multiple biopsies and a complete radiologic digestive evaluation were carried out. BE was diagnosed in case of replacement of oesophageal mucosa by specialized intestinal-type columnar mucosa. Anti-reflux surgery was considered in case of persistence of BE after medical therapy. Follow-up (mean 3.5 years) consisted in endoscopy every 6 months . Gastro-oesophageal reflux disease was found in 50 CDLS patients (80%) and BE in six of them (12% of the GERD group, 9.6% of the entire population, mean age 17 years, range 6-32 years). A short segment BE was observed in three patients, a long one in two patients and an infiltrating adenocarcinoma of the lower oesophagus in one patient. A higher frequency of BE in CDLS patients than in a normal population is found. A delayed diagnosis because of atypical GERD symptoms and an altered intestinal motility as a result of neurological impairment can be recognized as the main cause.
Background Esophageal and pharyngeal problems are common in the majority of patients with epiderm... more 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 twicedaily 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.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/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 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, 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.
Congenital diaphragmatic hernia (CDH) is a rare malformation characterized by a defect in the dia... more Congenital diaphragmatic hernia (CDH) is a rare malformation characterized by a defect in the diaphragmatic development allowing abdominal viscera to herniate in the chest and it is associated with pulmonary hypoplasia and hypertension. Gastroesophageal reflux disease (GERD) is one of the most frequent comorbidities in these patients, with a prevalence up to 81% of cases. 2 The current follow-up protocols suggest investigating GERD only in presence of symptoms, 3 but little is known about asymptomatic patients. Recently, some studies concerning the consequences of reflux esophagitis in CDH patients have been reported, showing an incidence of esophagitis of approximately 54%, some cases of Barrett esophagus and one case of esophageal adenocarcinoma. The primary aim of our study was to evaluate the prevalence of reflux esophagitis and the correlation with clinical signs in a long-term follow-up of patients with CDH, considering both the clinical manifestations and endoscopic findings. The secondary aim was to identify potential neonatal predisposing factors for GERD development.
Background: Supra-Transumbilical Laparotomy (STL) has been used in paediatric surgery for a broad... more 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, fi ve (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 diffi culty 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 choosen as fi rst approach.
To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (... more To report on our experience in the prenatal treatment of severe congenital diaphragmatic hernia (CDH) by fetoscopic endoluminal tracheal occlusion (FETO). Between 2012 and 2014, FETO was performed at our center in 21 cases of CDH considered to be severe based on sonographic measurement of observed/expected lung-to-head ratio (O/E LHR) and side of the defect. We reported pre- and postoperative ultrasound findings, procedure-related complications, pregnancy outcome and survival at 1-3 years of age. The median gestational age (GA) at balloon insertion was 28.1 weeks (range 26.0-31.1) and the median GA at delivery 34.7 weeks (range 31.6-39.0); delivery before 32 and 34 weeks occurred in 2 (9.5%) and 7 (33.3%) cases, respectively. Postnatal survival at 1-3 years of age in the 17 cases with isolated unilateral CDH was 47.1%. The percentage difference between pre-balloon removal O/E LHR and pre-FETO O/E LHR was significantly higher in survivors compared to neonates who died (40.8 vs. 21.2%...
La Pediatria medica e chirurgica : Medical and surgical pediatrics
An unusual case of macroscopic hematuria in a 14 year old boy is presented. At the time of the fi... more An unusual case of macroscopic hematuria in a 14 year old boy is presented. At the time of the first hospital admission, no urinary tract infection could be demonstrated, in spite of the associated symptoms of stranguria and dysuria. At ultrasound examination, only a mild thickening of the upper bladder wall was detected, and cystoscopy showed a huge oedema and inflammation of the mucosal layer. The biopsy of the bladder was characterized by a definite eosinophilic infiltration; due to this particular hystologic pattern, the diagnosis of eosinophilic cystitis was made. In the following months, the boy did not improve. Recurrent hematuria occurred, and a pseudo-polypoid mass in the inner bladder wall was detected at ultrasonography. A limited resection of the vesical dome was performed, to remove completely the mass. The hystologic examination showed Schistosoma Haematobium eggs in the bladder wall, with a typical granulomatous reaction. The post-operative course was uneventful, and ...
We report an extremely rare case of extrarenal testicular Wilms' tumor in a 3-year-old boy with i... more We report an extremely rare case of extrarenal testicular Wilms' tumor in a 3-year-old boy with intrabdominal undescended left testis. The patient was admitted because of pain and vomiting, with evidence of a huge abdominal mass. At surgery a large tumor arising from the intrabdominal testis was found. Histology showed the classical triphasic Wilms' tumor elements: epithelial, mesenchymal and blastemal areas. Extrarenal Wilms' tumors account for only 3 % of all Wilms' tumors and just *100 cases have been reported in literature. Testicular origin is anecdotic. We present histomorphological, histogenetic, clinical, diagnostic, prognostic and therapeutic features of this rare tumor.
Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal ma... more Background Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process.
Journal of Laparoendoscopic & Advanced Surgical Techniques, 2008
Blunt abdominal trauma is the most common cause of pancreatic injury in children. Laparoscopic di... more Blunt abdominal trauma is the most common cause of pancreatic injury in children. Laparoscopic distal pancreatectomy in a child with complete duct disruption has not been reported in the literature in children, although it has been well described in adults. In this paper report a case of a 7-year-old male, with grade 4 pancreatic trauma, who was treated nonoperatively in the acute phase and subsequently by laparoscopic distal pancreatectomy 3 months after the trauma. Although in adults the surgical management of grade 3-4 pancreatic traumatic injury is well described, including the laparoscopic approach, no report of laparoscopic distal pancreatectomy was found in the literature. We would like to emphasize the importance of using a conservative management in the acute phase of pancreatic injury, including grade 4 injuries. After this phase, the use of the high-definition computed tomography scan and endoscopic retrograde pancreatography were fundamental. Magnification of laparoscopic technique allowed us to identify the structures much better than open surgery.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, Jan 14, 2016
Purpose The objective of this study was to investigate the current practices of anal dilations af... more Purpose The objective of this study was to investigate the current practices of anal dilations after anorectal reconstruction for anorectal malformations (ARMs) in different centers. Materials and Methods An online survey, consisting of 27 questions about the practice of anal dilations, was launched in March 2015 among 54 pediatric surgeons with expertise in colorectal surgery. The survey was divided into three sections. The first section included questions regarding the country of origin, the role in the department, the average number of ARM cases treated per year, and the surgical approach used to repair ARMs. The second section was accessible only for surgeons who perform anal dilations and enquired about their modality of performing anal dilations-their attitude toward complications such as rectal prolapse, bleeding, or perineal dehiscence occurring during dilations-and about the incidence of rectal prolapse and/or anal stenosis, which required surgical repair, in their series o...
Background: Posterior reversible encephalopathy syndrome is a potentially reversible clinicoradio... more Background: Posterior reversible encephalopathy syndrome is a potentially reversible clinicoradiologic syndrome characterized by headache, mental confusion, visual disturbances and seizures associated with posterior cerebral lesions on radiological imaging. Prompt treatment of this condition is mandatory to avoid severe irreversible complications. Case presentation: We report a 9-year-old boy with arterial hypertension and headache as unique clinical presentation of posterior reversible encephalopathy syndrome. Conclusions: Severe and isolated headache associated with arterial hypertension can be the unique clinical presentation of posterior reversible encephalopathy syndrome. This syndrome must be considered even in absence of all typical symptoms to prevent the progression of a potentially life threatening condition.
To suggest a classification, describe the risk factors and management of rectal prolapse after an... more To suggest a classification, describe the risk factors and management of rectal prolapse after anorectoplasty for anorectal malformations (ARMs). We classified prolapse as minimal (rectal mucosa visible with Valsalva manoeuvre), moderate (prolapse <5 mm without Valsalva), evident (>5 mm without Valsalva) and compared patients with and without prolapse within our ARM-population. Among 150 patients, 40 (27 %) developed prolapse: 25 minimal, 6 moderate, 9 evident. Prolapse affected 33 % of males (9 % of perineal fistulas, 38 % of bulbar, 71 % of prostatic, 60 % of bladder neck and 13 % without fistula) and 21 % of females (9 % of perineal, 30 % of vestibular, 50 % of cloacas, and 25 % without fistula). Risk factors for prolapse were: tethered cord (40 vs 24 %), vertebral anomalies (39 vs 24 %), laparoscopic-assisted anorectoplasty (LAARP) (75 vs 25 %), and colostomy at birth (49 vs 9 %). Redo anorectoplasty was not associated with prolapse. Symptoms were present in 11 patients (28 %): in 7 % with minimal, 33 % with moderate and 77 % with evident prolapse. Nine patients (2 moderate, 7 evident) underwent surgical correction. Severe ARMs, tethered cord, vertebral anomalies, colostomy, and LAARP predispose to rectal prolapse. Classifying prolapse allows to predict symptoms and need for surgical correction, and to compare outcomes among different centers.
Backgroud/Purpose: The purpose of this study was to investigate the outcome of patients operated ... more Backgroud/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 ± 7.2 mmHg vs 32 ± 7.9 mmHg, p = 0.023). ARP was significantly lower in patients with neonatal colostomy compared to patients with primary repair (25.22 ± 10.24 mmHg vs 32.57 ± 6.68 mmHg, 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.
Down syndrome (DS) is often accompanied by gastrointestinal disease, occurring mainly in early in... more 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.
Although appendicitis is the condition that most commonly requires emergent abdominal surgery in ... more Although appendicitis is the condition that most commonly requires emergent abdominal surgery in the paediatric population, less than 2% of the disease occurs in infants and it is even more uncommon in neonates. In this report, we describe a rare case of a 14-month-old child presenting with abdominal pain first diagnosed with upper respiratory tract infection and then admitted to our Paediatric Surgery Department with a final diagnosis of acute appendicitis. A particular attention has to be kept on children presenting with an upper respiratory tract infection since symptoms can mask abdominal signs. Due to high morbidity and mortality rate related to a delayed diagnosis, appendicitis always has to be considered as a possible diagnosis, in order to ensure a prompt treatment.
To review the records of Cornelia de Lange Syndrome (CDLS) children, affected by Gastro-oesophage... more 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). A total of 62 CDLS patients were investigated for GERD (1 month-35 years). In all of them a pH-metry, an upper endoscopy with multiple biopsies and a complete radiologic digestive evaluation were carried out. BE was diagnosed in case of replacement of oesophageal mucosa by specialized intestinal-type columnar mucosa. Anti-reflux surgery was considered in case of persistence of BE after medical therapy. Follow-up (mean 3.5 years) consisted in endoscopy every 6 months . Gastro-oesophageal reflux disease was found in 50 CDLS patients (80%) and BE in six of them (12% of the GERD group, 9.6% of the entire population, mean age 17 years, range 6-32 years). A short segment BE was observed in three patients, a long one in two patients and an infiltrating adenocarcinoma of the lower oesophagus in one patient. A higher frequency of BE in CDLS patients than in a normal population is found. A delayed diagnosis because of atypical GERD symptoms and an altered intestinal motility as a result of neurological impairment can be recognized as the main cause.
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Papers by Ernesto Leva