Lucia Oriolo

The risk of associated urological abnormalities in children with pre and postnatal occasional diagnosis of solitary, small or ectopic kidney: is a complete urological screening always necessary?

ObjectiveVoiding cystourethrogram (VCUG) and radionuclide scan is recommended for patients with solitary (secondary to aplasia or multicystic dysplasia), hypoplasic or single ectopic kidney, to detect associated anomalies (vesicoureteric reflux, obstructive uropathies). With the increase of occasional diagnosis, mainly by fetal ultrasound (US), the possibility of an unjustified extension of diagnostic work up must be prevented. Aim of this paper was to estimate the incidence of associated anomalies in asymptomatic cases without associated US signs of hydronephrosis.Materials and methodsAmong 158 Patients examined there were 81 solitary kidneys (26 multicystic dysplasia), 27 small kidneys, 50 single ectopic kidneys); prenatal diagnosis was recorded in 86%. Incidence of associated anomalies was compared with figures resulting when symptomatic cases or with hydronephrosis were excluded.ResultsVesicoureteral reflux or obstruction were found in 17% of solitary kidneys, 70% of hypoplasic kidneys and 2% of single ectopic kidneys. Among those (120 cases) without infection or hydronephrosis, incidence decreased, respectively to 5, 60 and 0%.ConclusionsAssociated anomalies are reported to affect up to 48% of solitary kidneys and about 30% of single ectopic; 80% of severe reflux are usually associated to small kidneys. In our series of solitary and ectopic kidneys incidence of abnormalities was significantly less and fell to negligible values when occasionally detected, undilated cases were considered. On this basis, indiscriminate urological screening simply based on the occasional pre or postnatal detection of undilated solitary or ectopic kidney appears to be unjustified. Small kidneys deserve special attention and VCUG is always indicated.

The fate of prenatally diagnosed primary nonrefluxing megaureter: do we have reliable predictors for spontaneous resolution?

OBJECTIVES To compare predictive values of current morphologic parameters with congenital renal damage associated with severe megaureter. METHODS A retrospective analysis was performed using records of 37 patients (50 megaureters) referred before birth for a primary megaureter. Mean follow-up was 26 months (range, 1 to 8 years). RESULTS Dilatation resolved spontaneously in 46 of 50 ureters. Only 4 of 37 patients required surgery (10.8%) after a mean follow-up of 58 months (range, 32 to 80 months). Average time to resolution was 24 months (range, 1 to 82 months) and was independent from sex, side, and bilaterality. A weak correlation was found with initial anteroposterior pelvic diameter, ureteral diameter, and separate function at renogram. A significant correlation (P <0.02) was found between megaureter type and time elapsed to spontaneous resolution. As far as differential function was concerned, mean values were significantly lower among type III megaureters, which had the lowest rate of resolution. CONCLUSIONS The fate of severe megaureter seems strongly influenced by congenital renal damage secondary to a developmental abnormality of the ureteric bud. A poor resolution rate has to be expected in these cases; surgery must be reserved for symptomatic cases but has no influence on pre-existing renal damage.

Meconium obstruction in absence of cystic fibrosis in low birth weight infants: an emerging challenge from increasing survival

BackgroundMeconium abnormalities are characterized by a wide spectrum of severity, from the meconium plug syndrome to the complicated meconium ileus associated with cystic fibrosis. Meconium Related Ileus in absence of Cystic Fibrosis includes a combination of highly viscid meconium and poor intestinal motility, low grade obstruction, benign systemic and abdominal examination, distended loops without air fluid levels. Associated risk factors are severe prematurity and low birth weight, Caesarean delivery, Maternal MgSO4 therapy, maternal diabetes. In the last 20 yrs a new specific type of these meconium related obstructions has been described in premature neonates with low birth weight. Its incidence has shown to increase while its management continues to be challenging and controversial for the risk of complicated obstruction and perforation.Materials and methodsAmong 55 newborns admitted between 1992-2008 with Meconium Related Ileus as final diagnosis, data about Low Birth Weight infants (LBW < 1500 g) were extracted and compared to those of patients ≥ 1500 g. Hischsprungs Diseases and Cystic Fibrosis were excluded by rectal biopsy and genetic probe before discharge. A softening enema with Gastrografin was the first option whenever overt perforation was not present. Temporary stoma or trans appendiceal bowel irrigation were elected after unsuccessful enema while prompt surgical exploration was performed in perforated cases. NEC was excluded in all operated cases. Data collected were perinatal history and neonatal clinical data, radiological signs, clinical course and complications, management and outcome.Results30 cases with BW ≥ 1500 g had an M/F ratio16/14, Mean B.W. 3052 g, Mean G.A. 37 w Caesarean section rate 40%. There were 10 meconium plug syndrome, 4 small left colon syndromes, and 16 meconium ileus without Cystic Fibrosis. Five cases were born at our institution (inborn) versus 25 referred after a mean of 2, 4 Days (1-7) after birth in another Hospital (outborn). They were managed, after a Gastrografin enema with 90% success rate, by 1 temporary Ileostomy and 2 trans appendiceal irrigation. 25 cases with BW< 1500 g (LBW) had M/F ratio 11/14, Mean B.W. 818 g, Mean G.A. 27 w, Caesarean section rate 70%, assisted ventilation 16/25. There were 8 inborn and 17 outborn. Gastrografin enema was successful in 6 out 8 inborn infants only, all referred within one week from birth. There were 12 perforations mainly among late referred LBW outborn.ConclusionsMeconium Related Ileus without Cystic Fibrosis responds to conservative management and softening enema in most of mature infants. In LBW clinical course is initially benign but as any long standing bowel obstruction management may present particular challenges. Clinical and plain radiographic criteria are reliable for making diagnosis and testing for Cystic Fibrosis may not be indicated. Enema may be resolutive when performed in a proper environment. Perforated cases may be confused with NEC which is excluded by clinical history, no signs of sepsis, lab signs missing, abdominal signs missing, typical radiological signs missing. The higher complication rate is recorded among cases delivered and initially managed in Neonatal Units without co-located Surgical Facilities. Early diagnosis and aggressive medical therapy may lead to higher success rate and help avoiding surgical interventions. Surgical therapy in uncomplicated cases, unresponsive to medical management, should be minimally aggressive.

Jejunoileal atresia: Factors affecting the outcome and long-term sequelae

Context: Jejunoileal atresia (JIA) is a common abnormality. The outcome is conditioned by several variables. Nutritional problems, and long-term sequelae are described among those who survive. Aim: To correlate the type of JIA and its management to the outcome and long-term quality of life. Settings and Design: Forty-three cases over a 17-year period (1992–2009). Perinatal data, management, and outcome were extracted from the clinical notes. The cases that had survived were contacted to get information about their present condition. Materials and Methods: Morbidity and mortality were matched to maturity, birth weight, mode of diagnosis, type of JIA, associated anomalies, and management and duration of parenteral nutrition. Growth and quality of life in 34 cases were evaluated via a telephone interview at a minimum of one year from surgery. Statistical analysis: Fisher test, Linear regression test, Kruskal-Wallis test, Dunns comparison test. Results: Male/Female ratio was 25/18 and median birth weight was 2.644 g. Prenatal diagnosis was recorded in 34%. Six patients (14%) had associated anomalies. Primary surgery was resection and anastomosis in 88% and temporary stoma in 12%. Length of the resected bowel ranged from 3 to 65 cm. Whenever multiple atresia was found, the bowel length was saved by multiple anastomosis. Three dehiscences and three adhesive obstructions required a reoperation. Two patients (4%) died due to a central catheter–related sepsis. Prenatal diagnosis did not influence the outcome and was associated with a higher rate of Cesarean deliveries. Interview, at a median of nine years, showed normal growth in 85%. One case of short bowel syndrome is still on parenteral support at 22 months. Conclusions: Preserving bowel length and reducing the recourse to stoma is the key to good outcome and growth. Sequelae are correlated with the type of atresia and length of residual bowel; however, they decrease their severity with time.

Antenatal Ultrasonographic Features Associated with Segmental Small Bowel Dilatation: An Unusual Neonatal Condition Mimicking Congenital Small Bowel Obstruction

Segmental dilatation of the intestine (SDI) is an unusual condition presenting during the neonatal period, with symptoms of obstruction. Late diagnosed cases are also reported. The clinical polymorphism, and the lack of specificity of radiological investigations, make diagnosis difficult. Prenatal detection of abdominal cystic lesions or bowel dilatation has occasionally been reported to be associated with SDI. We herein report two cases of SDI, with a prenatal ultrasonographic suspicion of intestinal abnormality. In both infants, a dilatation of the ileum was found at surgery, without any evident site of obstruction or abnormal histology. SDI must be taken into consideration when a prenatal alert of possible bowel obstruction is not followed by postnatal clinical signs.

Delivery in a tertiary Center with co-located surgical facilities makes the difference among neonates with prenatally diagnosed major abnormalities

Objective: Impact of prenatal diagnosis (PD) of major abnormalities on neonatal outcome is matter of debate. Unfortunately cases with and without PD may sometimes not be comparable. This is generally related to a lower maturity (GA) and weight (BW) secondary to a high rate of preterm cesarean sections (CSs) for clinical convenience. Present study tried to find out if in utero transfer to a Center with co-located surgical facilities reduces these potential risk factors. Methods: 152 cases with prenatally detectable conditions were studied and divided according to PD; the following data were compared: GA, BW, obstetrical complications, associated malformations, mode and site of delivery, outcome. Cases with PD delivered in our Center (Inborn, IB) or transferred after birth (Outborn, OB) were compared. Results: 61 cases had a PD (IB/OB ratio 34/27); GA and BW were lower respect to no-PD cases and a higher CS rate was found among OB cases, not justified by complicated pregnancies. No differences in outcome were observed. Conclusions: Elective preterm CS is still largely practiced for fetuses with PD of a major congenital anomaly in Centers without co-located surgical facilities either in the presumption of safer delivery or to facilitate postnatal transfer. This leads to a lower GA and BW and may spoil potential impact of PD on outcome. This may be avoided promoting prenatal transfer to a Center with co-located surgical facilities.

Prenatal Diagnosis of Duodenal Obstruction Selects Cases with a Higher Risk of Maternal-Foetal Complications and Demands in utero Transfer to a Tertiary Centre

Objectives: It was the aim of this study to determine if prenatal diagnosis of congenital duodenal obstruction (CDO) selects high-risk pregnancies and demands special perinatal attention. Methods: Medical records of 62 neonates with intrinsic CDO, admitted since 1981 in 2 institutions, were reviewed and divided into 2 groups: 39 cases, detected in utero by a prenatal ultrasonogram (group A), and 23 diagnosed at birth (group B). Prevalence of complete CDO, mean gestational age, mean birth weight, hydramnios, as well as maternal-foetal complications requiring emergency Caesarean section and associated with premature delivery were compared in the 2 groups. Results: A complete CDO was found in 77% of patients in group A versus 48% of patients in group B (p < 0.02). Differences in mean gestational age and mean birth weight in the 2 groups were non-significant. Prenatally diagnosed patients presented a higher prevalence of hydramnios, maternal-foetal complications and premature delivery. Conclusions: Prenatal diagnosis selects patients with complete CDO and hydramnios. These pregnancies present a high incidence of maternal-foetal complications, which may require an emergency Caesarean section, and are frequently associated with premature delivery. These aspects must be considered in prenatal counselling. In utero transfer to a tertiary centre for delivery and appropriate perinatal care should be recommended.

Pattern of esophageal muscle in infants with esophageal atresia

Aim: Striated muscles which compose the human proximal esophagus are thought to derive from myoblasts of the caudal branchial arches.In this study we tested the hypothesis that esophageal atresia (EA) may interfere with myoblast migration. Methods: We examined microscopically serial sections of 37 specimens from the tip of the upper pouch and 15 specimens from the proximal end of the lower esophagus from 40 infants with EA. Those were compared with serial sections of esophagus and trachea removed en bloc from 10 infants who died for disease not related to the gut. Results: Infants without EA had a complete transition from striated to smooth muscles in the esophagus caudal to the tracheal bifurcation, whereas in infants with EA this transition occurred above the carina(see table). Conclusion: The difference in distribution of striated muscle between normal or atretic esophagus, suggests that the reduction in striated muscle component in EA is more probably a concomitant anomaly, rather than the result of an interference from EA. Implication: In infants with repaired EA, a congenital anomaly of esophageal striated muscle arrangement may impair the organization of peristalsis and the defence mechanism against esophago-pharyngeal reflux. 523