Search

Urethral duplication (UD) is a rare malformation, which can be associated with other anomalies, like anorectal malformations (ARM). ARM has been described with occult spinal dysraphism (OSD). No ARM-UD-OSD combination has been reported.To share our experience and to discuss the management of ARM-UD-OSD association.We retrospectively reviewed records of five boys with UD. Four of these had ARM-UD-OSD association. ARM was the first diagnosis in all; OSD and UD was detected during screening for associated malformation.All patients underwent ARM correction, 3 after colostomy. All reached fecal continence, 3 are performing bowel management. Three patients underwent UD surgical correction. Because of symptoms' worsening, 2 children had detethering surgery. At a mean follow-up of 9.5 years, all patients have normal renal function, 3 are on clean intermittent catheterization (CIC) for neurogenic bladder (1 has a cystostomy, another one an appendicostomy).UD and OSD should be considered in patients with ARM. Children with these conditions associated must be centralized in a third-level Center and management carefully planned; in particular, urethral reconstruction should be weighed, considering CIC could be required. Suspicion of neurogenic bladder must be present in OSD patient.

Epididymo-orchitis (EO) is infrequently reported in anorectal malformation (ARM) cases. Therefore, it is difficult to assess its risk factors. A total of 110 male patients who were operated on for ARM at the same Institution over a period of 13 years were contacted. Association was assessed between EO and the following: spinal dysraphism (SD), symptomatic VUR (VUR), and bowel management (BM) requiring enemas. The data were analyzed with the Chi-square test. A total of 89 patients were contacted. Ten cases of EO were found, and all occurred in patients with recto-urethral (RU) fistula after reconstruction. The patients’ age at first episode ranged between 4 and 11 years. RU fistula patients experiencing EO (Group A, 10 patients) were compared with those without EO (Group B, 33 patients). VUR occurred in 9/10 cases in Group A and in 13/33 cases in group B (Chi-square 7.8658, p = 0.005038). SD was present in 4/10 cases in group A and in 13/33 cases in Group B (Chi-square 0.0434, p = 0.83491). A total of 8/10 cases in Group A and 12/33 cases in Group B were on BM (Chi-square 5.87, p = 0.0015). EO occurs in approximately in 20 % of male cases with ARM, and recto-urinary communication and should be considered the primary diagnosis in the presence of testicular pain. This could avoid unnecessary surgical exploration, and the family should be counseled about this subject

Alpha-fetoprotein (AFP) is a common tumoral marker in pediatric neoplasms; increased serum levels are usually encountered in tumors arising from tissues producing AFP during fetal life. However, elevation of such protein is rarely found in patients with Wilms tumor (WT). Three patients with WT and elevated serum AFP were studied over the course of the disease. One patient had left WT with invasion of aorto-caval lymph nodes and lung metastases. The second patient was referred to our center for abdominal recurrence of bilateral WT whereas the third showed right WT with inferior vena cava thrombosis. AFP levels demonstrated a trend parallel to decrease/increase of tumor size, with further elevation in patients with metastases. Elevated AFP serum levels in patients with WT could be related to peculiar histological features and serial dosage might be a useful diagnostic and prognostic test.

Previous studies have assessed informational needs of parents of sick fetuses, neonates and children to identify favourable patterns of physician-parent interaction. The aim of this paper was to assess parents' informational needs before and after the operation when the one affected by a surgically correctable anomaly is a newborn. In the period ranging from 1997 to 2000 all couples with newborns undergoing major surgical procedures at birth, at the Newborn Surgery Unit of the Hospital Bambino Gesù, were surveyed by means of a questionnaire. Thirty couples form the object of the study. The two genders did not show significant difference in any of the considered items. All 30/30 mothers (M; 100%) and 29/30 fathers (F; 97%) had never heard about the anomaly before the diagnosis was established in their baby. All parents (100%) stated that it would be better if the surgeon informed them with written educational material. Principal informational needs before operation regard: the description of the anomaly (M = 10; F = 11) and the prognosis in terms of survival chances of the baby (M = 17; F = 15); after surgery the cause of the anomaly (M = 5; F = 3); the steps of the recovery process (M = 10; F = 12) as well as the quality of their baby's life (M = 9; F = 9). In the immediate perioperative period the surgeon should well address parents' informational needs, which may significantly differ from his communication plan.

Even if lumbar magnetic resonance imaging (MRI) is considered the gold standard in the diagnosis of occult spinal dysraphism (SD) in patients with anorectal malformations (ARMs), spinal ultrasound (US) performed up to 5 months of life have been largely used as a screening test. The aim of the present study was to evaluate the accuracy in terms of sensibility and specificity of neonatal US to detect occult SD in patients with ARMs.Retrospective analysis of all patients treated for ARMs between 1999 and 2013 at our institution who underwent both spinal US (up to 5 months of life) and MRI. Sensibility and specificity have been calculated for US based on MRI results.Of 244 patients treated for ARMs at our institution, 82 (34 females, 48 males) underwent both the imaging studies and have been included in this study. ARMs types were: anal stenosis (7), recto-vestibular fistula (19), recto-perineal fistula (3) and cloaca (5) in female and imperforate anus (7) recto-perineal fistula (14), recto-urethral fistula (22), recto-vesical fistula (5) in males. Forty-seven patients (57, 3 % of total, 18 females, 29 males) had some occult SD (tethered spinal cord, spinal lipoma, syringomyelia) at MRI. Only 7 (14, 8 %) patients of those with spinal anomalies at MRI had pathological US studies. In our population, sensibility and specificity of US for diagnosis of occult SD were, respectively, 14, 8 and 100 %.Since it is well known that a screening test must have a high sensibility, our data suggest that spinal ultrasound is not suitable as a screening test for occult spinal dysraphism in patients with ARMs. Furthermore, we strongly advise against the use of US as a screening test for spinal dysraphism to prevent a false sense of security in physician and patients' families.

Since 1999, complete primary repair of exstrophy has represented a valid alternative in the treatment of exstrophy patients, offering one- stage reconstruction for all components of this malformation in newborns. The vast majority of cases are currently approached within 48/72 h of life, and risk of vascular injury to penile glans and/or corpora has been reported with increased frequency with this procedure. We report our initial experience with a delayed approach to complete repair, with bladder plate left intact and taken care at home by the parents, while awaiting for the patient to reach adequate weight. Delayed approach also enabled us to preoperatively stimulate phallic size with testosterone, a treatment which was so far confined only to redo or failed cases. Six male exstrophy patients were treated over a three-year (2007–2009) period. After initial workup, newborns were discharged home with bladder plate taken care by the parents. A weight of 4,500 g was arbitrarily deemed satisfactory for surgery. While at home, patients underwent preoperative testosterone stimulation (testosterone enanthate, four biweekly administrations of 100 mg/per square meter body surface). In each case biopsies of bladder mucosa were taken at time of surgery. Complications, age at surgery, increases in phallic size were extracted from clinical and surgical case notes. Weight at surgery ranged from 4,510 to 5,600 g. Age range was 43–91 days. Mean increase in phallic size after testosterone stimulation was 8.3 mm. Three complications were observed: two were suprapubic fistulas, of these, one closed spontaneously and one required surgery subsequently. In one fascial dehiscence emergency closure was needed. Hypospadias occurred in all patients. All histologic specimens demonstrated a mildly inflamed bladder mucosa. Delayed repair of bladder exstrophy allows to approach patients who have reached adequate weight and stabilization; if adequately cared for bladder plate shows minimal inflammation at surgery and can be managed by the parents at home. Deferring surgery also offers the advantages of preoperative testosterone stimulation, promotion of mother–baby relationship as well as of transfer to Centers with adequate experience and proficiency in all aspects of bladder exstrophy reconstruction.