A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.

Ultrasound-guided Hartmann's solution enema: first-choice procedure for reducing idiopathic intussusception.

PURPOSE: This study was undertaken to compare the effectiveness of ultrasound-guided Hartmann's solution enema (US-E) and radiological liquid enema (RX-E) in reducing idiopathic ileocecocolic intussusceptions in relation to patient age and symptom duration. MATERIALS AND METHODS: The study group consisted of 42 patients with idiopathic ileocecocolic intussusception treated with US-E (20 patients) or RX-E (23 patients), with one patient undergoing both procedures owing to recurrence. Patients were divided into subgroups according to age (<6 months, 6-12 months, >12 months) and symptom duration (<12 h, 12-24 h, >24 h). RESULTS: Complete reduction was achieved in 15/20 patients treated with US-E (75%) and in 10/23 treated with RX-E (43.5%) (p=ns). Recurrence was observed in 1/20 US-E and 0/23 RX-E (p=ns) patients. No complications were encountered. US-E had a significantly higher success rate than RX-E in patients >12 months (p=0.0063) and with symptom duration >24 h (p=0.0361). No differences were found in the other subgroups (p=ns). CONCLUSIONS: US-E and RX-E are procedures of comparable value and safety in reducing idiopathic intussusception. US-E seems to be more effective in patients >12 months or with symptom duration >24 h. As US-E avoids radiation exposure, it should be considered the first-choice procedure for reducing idiopathic ileocecocolic intussusception, particularly in these two subgroups of patients.

Anal canal duplication: a retrospective analysis of 12 cases from two European pediatric surgical departments.

Anal canal duplication (ACD) represents an extremely rare intestinal congenital anomaly of unknown origin. Usually evidenced within 2 years of age, nearly 45% of reported cases present associated malformations such as presacral mass, anorectal malformation (ARM) and genitourinary anomalies. The confirmative diagnosis is histopathological, with evidence of an anal mucosal lining (squamous +/- transitional epithelium), surrounded from a smooth muscle coat and anal glands. We review a conjoined experience from two European pediatric surgical departments. From 1970 to 2005, 12 patients were observed, seven in Pescara, Italy (1997-2005), five in Barcelona, Spain (1970-2004) - mean age at diagnosis 17.8 months, range 0-60; M:F = 1:11. Clinical presentation, diagnostic-surgical approach, and complications were reviewed. According to clinical presentation, patients could be divided in three age groups: asymptomatic (mean age 4.8 months, six patients - one with an associated complex genitourinary malformation, one with a presacral mature teratoma, one with ACD evidenced hysthologically on a retroanal mass removed during the correction of an ARM), mildly symptomatic - constipation, mucous discharge (mean age 29.2 months, four patients - one with associated presacral ependymoma and intestinal neuronal dysplasia type B, one with presacral mass) and complicated - perineal abscess, recurrent fistula (mean age 34 months, two patients). In 11 cases a perianal orifice was evident (ten posteriorly located). The pelvic-MRI was the preferred diagnostic tool in Pescara (5/7, with presacral mass in two patients), fistulography in Barcelona (5/5), where one presacral mass was discovered intraoperatively. Eleven patients underwent surgical removal of the ACD (five perineal approach, five posterior sagittal approach, and one PSARP). Histopathological findings confirmed the diagnosis in operated cases (11). The parents of the male patient denied the consent to surgical treatment. The only major post-operative complication was a sphincteric insufficiency (one case), surgically treated. When facing a perianal orifice, attention should be paid to ACD, particularly in female patients with coexistent genitourinary or intestinal malformations. Pelvic US and MRI are the gold standard to evidence the not rarely associated presacral mass. Surgical early removal (mucosectomy or perineal/posterior sagittal approach, depending on length of ACD and associated presacral mass) is warranted, also in asymptomatic patients, because of the risk of inflammatory complications and cancer (the latter reported in literature in adults).

Obstructive ureterocele-an ongoing challenge.

Ureterocele is a cystic dilatation of the intravesical ureter that is most commonly observed in females and children, and usually affects the upper moiety of a complete pyeloureteral duplication. According to their position, ureteroceles are divided into intravesical, when the ureterocele is completely contained inside the bladder, and extravesical when part of the cyst extends to the urethra or bladder neck. Most ureteroceles are diagnosed in utero or immediately after birth during an echographic screening of renal malformations. Severe, febrile urinary tract infection is the most common postnatal presentation of ureteroceles, but they may, rarely, prolapse and acutely obstruct the bladder outlet. Once an ureterocele is identified sonographically, a voiding cystourethrogram to detect vesicoureteral reflux (VUR) and a 99m-technetium dimercapto-succinic acid renal scan to evaluate the function of the different portions of the kidney are mandatory. VUR in the lower pole is observed in 50% of cases and in the contralateral kidney in 25%. Simple endoscopic puncture of the ureterocele has recently been advocated as an emergency therapy for infected or obstructing ureteroceles and as an elective therapy for intravesical ureteroceles. The rate of additional surgery after elective endoscopic puncture of an orthotopic ureterocele ranges from 7 to 23%. Treatment of ectopic ureteroceles is more challenging and both endoscopic puncture and upper pole partial nephrectomy frequently require additional surgery at the bladder level. The reoperation rate after endoscopic treatment varies from 48 to 100%. It is 15 to 20% after upper pole partial nephrectomy if VUR was absent before the operation, but is as high as 50-100% when VUR was present. Thus, endoscopic incision is appropriate as an emergency treatment or when dealing with a completely intravesical ureterocele. Upper pole partial nephrectomy is the elective treatment for an ectopic ureterocele without preoperative VUR. In an ectopic ureterocele with VUR, no matter which type of primary therapy has been chosen, a secondary procedure at the bladder level, involving ureterocele removal and reimplantation of the ureter(s), should be anticipated.

Delayed presentation of congenital diaphragmatic Bochdalek hernia. Case report.

The authors describe the case of a 1-month-old patient admitted for crisis of paleness, accompanied by hyporeactivity, tachycardia and polypnea; the symptoms, attenuated after detension of the abdomen, grew worse, with compromise of general conditions and respiratory failure. Chest X-ray shows the herniation of intestinal loops in the thoracic cavity. After the first emergency care, it became necessary to submit the baby to HFO and cardiovascular drugs for some hours before getting oxygenation index (OI) and circulation stabilization. Late presenting congenital diaphragmatic hernia (LCDH) is a condition that can occur during first or second infancy with respiratory or abdominal symptoms, quickly worsening or intermittent. The prognosis is good if diagnosis is timely. Patient stabilization before surgical intervention must be valued not only by O.I. but also by circulation conditions.

Blue rubber bleb nevus syndrome and gastrointestinal haemorrhage: which treatment?

PURPOSE: To describe a paediatric case of "Blue Rubber Bleb Nevus Syndrome" (BRBNS) or Bean's syndrome, a rare systemic disorder characterised by cutaneous and gastrointestinal vascular malformations that often lead to overt life-threatening gastrointestinal bleeding or occult blood loss with severe anaemia and iron deficiency. CASE REPORT: A 6-year-old girl with multiple characteristic cutaneous vascular lesions was admitted for a massive rectal bleeding. A few months previously she was endoscopically treated for gastric angiomas which developed into melaena. Preoperative investigations revealed the recurrence of gastric lesions. At laparotomy, more than 25 angiomas of the GI tract were found. Multiple intestinal resections were carried out. RESULTS: No intraoperative or postoperative problems occurred and the girl is completely healthy without further bleeding after a follow-up period of three years. CONCLUSIONS: BRBNS belongs to the group of vascular venous malformations. Most of the time it occurs sporadically, but it can be inherited as an autosomal dominant trait. Recent analysis identified a locus on chromosome 9 responsible for venous malformations. BRBNS patients present typical skin lesions, with some lesions having a rubber-like nipple appearance; the number of skin and GI lesions and the severity of anaemia are correlated. Treatment is dependent on the extent of gut involvement and the severity of the clinical picture. In the absence of massive bleeding, a conservative treatment will be sufficient; otherwise resections are mandatory, but additional lesions may subsequently develop. Management with electrocautery or laser photocoagulation are usually not effective even if some reports recommend them. Pharmacological treatment is useless. Prognosis of BRBNS is unknown.

Transumbilical laparoscopic-assisted appendectomy (TULAA): a safe and useful alternative for uncomplicated appendicitis.

AIM: To compare transumbilical laparoscopic-assisted appendectomy (TULAA) and open appendectomy (OA) in cases of acute uncomplicated appendicitis. METHODS: 58 TULAA and 65 OA in patients with a preoperative diagnosis of acute uncomplicated appendicitis are compared. Pneumoperitoneum was obtained with a transumbilical 10 mm trocar (telescope access) and a 5 mm operative channel introduced in the left iliac fossa. Appendectomy was performed outside the abdomen, after the exteriorisation of the appendix through the transumbilical incision. RESULTS: In the TULAA group, operative time and hospital stay were reduced. Conversion was necessary in one case (1.7 %), and in one case (1.7 %), an additional 5 mm operative channel was introduced. Neither intra- or postoperative complications were found in the TULAA group, with excellent cosmetic results. In the OA group we had a wound infection (1.5 %) and in 8 cases (12.3 %) an enlargement of the incision was necessary. CONCLUSIONS: TULAA is the best approach in uncomplicated appendicitis. It is less invasive and traumatic, permits a complete evaluation of the peritoneal cavity with superior cosmetic results, especially in obese patients and in cases of ectopic appendicitis.

Congenital giant megaureter: first neonatal case.

The authors report the first neonatal presentation of a congenital giant megaureter (CGM), a very rare unilateral urinary anomaly, which is defined as "a ureter whose lumen is congenitally, focally and segmentally dilated to more than 10 times the normal diameter, in presence of normal bladder volume and function." The definition of CGM is purely descriptive; it can be secondary to several different diseases, and in the series of 21 CGM (12 in duplex system) reported by Chen-Ju Huang, the morphology of the distal ureter varied from a near normal caliber to a ureteral stenosis, a ureterocele or a complete ureteral atresia. J Pediatr Surg 36:944-945.

The renal-resistive index from the last 3 months of pregnancy to 6 months old.

OBJECTIVE: To measure the renal resistive index (RI, an estimate of renal vascular resistance, used to assess upper tract obstructive uropathy) from the last trimester of pregnancy to the sixth month of life in a large series of healthy subjects, and thus to identify normal values that can be used routinely. During the first semester of life significant haemodynamic changes during the physiological development of the kidney cause considerable variability in RI, which is thus considered less reliable in this period. SUBJECTS AND METHODS: From September 1998 to October 1999, 93 subjects (186 renal units, RU) were enrolled; 32 were fetuses in the last trimester of pregnancy (group 1, 64 RU) and 61 were children (122 RU), 30 aged 0-1 month (group 2, 60 RU), 20 aged 1-3 months (group 3, 40 RU) and 11 aged 3-6 months (group 4, 22 RU). All subjects underwent colour Doppler ultrasonography and the RI of the renal artery was measured for each kidney. RESULTS: The RI was very high in group 1 but decreased noticeably during the first 6 months of life, reaching values similar to those in adults after the third month. The variability in RI continuously declined with age, becoming less important. The normal ranges for groups 1-4 were 0.67-0.88, 0.57-0.90, 0.60-0.84 and 0.65-0.75, respectively. There were no statistically significant differences between the left and right kidneys. CONCLUSION: In the first semester of life there is more than one landmark value of RI depending on the month of age of the infant. This should be considered when assessing upper tract obstructive uropathies after birth and the RI should be compared with the normal ranges reported herein.

Conservative treatment of neonatal primary megaureter.

The growing agreement toward the conservative treatment of primary megaureter (PM) is supported by the increasingly frequent reports in the literature of spontaneous resolution of this pathology after few years of attendance. If the PM is asymptomatic without the presence of parenchymatous damage, and the diuretic scintiscan does not show a definite obstruction of the uretero-vesical junction, the conservative treatment should be the choice for the neonatal forms of PM. We report our experience of 14 neonatal PM, conservatively managed out of a total of 22 PM observed between 1990 and 1996. All the patients have been controlled with serial ultrasonography and Tc99 DTPA scintigraphy. Three of them underwent a surgical operation because of persistence or impairment of the clinical and scintigraphic pictures after a 12-18 months' follow-up. Some of the remainders are completely recovered while others are going toward resolution. The conservative treatment of neonatal PM is therefore confirmed to be sure and effective, and in spite of the different attitudes expressed by reliable authors in the up-to-date literature we believe it should be undertaken for the asymptomatic forms in which there is no documented uretero-vesical obstruction.

A simple and safe method to visualize the inferior pouch in esophageal atresia without fistula.

The authors studied the true "dynamic" distance between the esophageal stumps in type I atresia in order to perform the delayed anastomosis at the most favorable time. The position of the inferior pouch was fluoroscopically evaluated in four patients, inserting a Hegar dilator through the gastrostomy. The superior esophageal pouch was delineated by a Replogle tube. No anesthesia was required. In all cases the procedure was simple, safe, fast, and accurate. No complications occurred, and patients could be operated upon at the optimal time.

Multicystic kidney joined to the homolateral testis by an ectopic vas deferens: embryological hypothesis for a new description.

Ectopic location of the vas deferens is a rare congenital anomaly with multiple variations. The frequent association with ano-rectal abnormalities and hypospadias is well known. We report two cases of a newborn and a 3-year-old child with ectopic vas deferens coupled with a left multicystic kidney without any ureteral structure. Furthermore, the latter had a contralateral vesicoureteral reflux and anal agenesis with recto-bulbar fistula. Our attempt with this report is to explain the development of such anomalous deferential outlet into the multicystic kidney, according to the most qualified theory of the Wolffian duct embryology.

[Lyme disease. The first pediatric case report in Abruzzo]. / La malattia di Lyme in Abruzzo. Il primo caso in età pediatrica.

INTRODUCTION: In the etiology of arthritis appearing in the first years of life is important to consider Borrelia burgdorferi infection, an ubiquitous zoonosis with a multisystemic pathology. The disease may be characterised by striking clinical and laboratory variations conditioned by the patient's immune response. The authors report the first case of Lyme disease in infancy in Abruzzo, a region whose geographical situation and the presence of the National Park may be predisposed to the epidemic diffusion of borreliosis. CASE REPORT: The evolution of disease, onset during the first year of life, was conditioned by antibiotic treatment administered owing to the presence of urinary tract infection secondary to malformative uropathy and the young patient's immune response was initially characterised by the presence of anti-DNA and anti-nucleus antibodies and the late positivisation of specific borreliosis serology. The typical dermatological symptoms of the disease were superimposed by secondary cutaneous eruptions secondary to antibiotic treatment, with a Jarisch-Herxheimer type reaction. The involvement of the right knee and both tibio-tarsal joints were subject to differential diagnosis with autoimmune connectivitis. The positivisation of specific serological tests completed the diagnostic process by definitively confirming the clinical suspicion. Antibacterial treatment led to full recovery. CONCLUSIONS: The experience confirms the difficulty of diagnosing Lyme borreliosis. In the presence of clinical manifestations suggesting the disease, patient and systematic serological tests must be performed. Antibiotic treatment in infants leads to excellent results in Lyme arthritis.

[Congenital deformities of the chest wall. Surgical treatment]. / Le malformazioni congenite della parete toracica. Trattamento chirurgico.

BACKGROUND AND AIMS: Malformations of the front chest wall are congenital defects that have been reported since the seventeenth century and which include the clinical syndromes of funnel chest, pigeon chest and Poland's syndrome. Although they have been reported for such a long time, their pathogenesis is in many ways still unknown and the theories proposed up until now reveal uncertain and unsatisfactory findings. Attempts to gather precise information regarding their real incidence are equally ineffective given that frequently those cases which are not particularly severe are not referred for specialist care. These malformations usually involve severe psychological problems caused by the deformity and, in more severe cases, may lead to alterations in normal cardiac and respiratory function which are above all evident during intense physical effort. METHODS: The authors critically review the cases of chest malformation corrected by the Department of Pediatric Surgery at the G. Gaslini Institute during the period from 1986 to date. They describe the surgical techniques used, justifying their choice and discussing any postoperative complications. RESULTS: This experience shows that there is a clear preference for less invasive surgery for the correction of funnel chest compared to the technique proposed by Ravitch in which the sternum was totally mobilised following its extensive detachment from the other bone and muscular structures of the thoracic cage, with a high risk of damaging the internal mammary artery. The operation that was felt to be most suitable for correcting this defect was that described by Wesselhoett and De Luca in 1982. It is easier to perform and less invasive: it eliminates the detachment phase by inserting a support in titanium alloy through the sternal frame. Autologous grafts taken from the bottom contralateral ribs to the defect were used to treat Poland's syndrome in line with the technique suggested by Ravitch, thus achieving good stability of the whole chest; in view of the young age of the patients undergoing correction, it was not thought appropriate to proceed with the cosmetic reconstruction of the pectoral muscles using a peduncled flap of latissimus dorsi. A total of 70 patients were operated in this way; the cosmetic results were very satisfactory, whereas complications were limited to 5 cases of intraoperative pneumothorax, 5 cases of serohematic subcutaneous collection which were treated conservatively, and 1 case of hypertrophic scarring.

[Surgical treatment of thoracic wall malformations]. / Tratamiento quirúrgico de las malformaciones de la pared torácica.

Anterior chest wall deformities in children are the expression of some congenital malformation such as Poland's syndrome and pectus excavatum. The surgical treatment of these malformations affecting children is aimed at correcting large wall defects and stabilizing the chest wall, assuring at the same time chest harmonious growth and postoperative functional assessment. We present the results of the treatment of 2 cases of Poland's syndrome, 20 cases of pectus excavatum and 2 cases of pectus carinatum, with a follow-up of 6 months--9 years.

[Achalasic megaesophagus with onset in the 1st year of life. A case report]. / Megaesofago acalasico ad insorgenza nel I anno di vita. Descrizione di un caso.

We report a case of esophageal achalasia in a nine months old baby. Recurrent cough and cyanosis were the most important clinical findings. Esophagomyotomy remarkably improved the clinical symptoms. Disorders of esophageal motility may be an important cause of respiratory emergencies in the first year of life.