First trimester lower abdominal cysts as early predictor of anorectal malformations.

INTRODUCTION: Prenatal ultrasound diagnosis of anorectal malformations (ARMs) is challenging and often missed as direct visualization of the anal sphincter is not routinely performed, plus the technique is operator-dependent and inaccurate, also in expert hands. Other indirect signs, such as rectosigmoid overdistension or intraluminal calcifications, are occasionally present in late pregnancy. The detection of a cyst of the lower abdomen in the first trimester may be an early sign of ARM. Here we reported our experience and a review of the literature of such cases. MATERIAL AND METHODS: Isolated cases of lower abdomen cysts encountered in the first trimester at the Prenatal Diagnosis Unit during the last 5 years were retrieved and compared with those found in literature. Post-natal clinical data were analyzed to check the presence and type of malformations. RESULTS: A total of three cases of lower abdomen cysts were found in our center and 13 in literature. In our case series all the cysts spontaneously regressed and were no longer visible since the second trimester of pregnancy, while in literature this was reported in only 4 out of 13 cases. ARM was confirmed in all patients at birth or post-mortem. CONCLUSIONS: The finding of a lower abdomen cyst during the first trimester of pregnancy could be an early predictive sign of ARM, even if it disappears during pregnancy. In these cases, we suggest mentioning to the parents the possibility of an ARM during the counseling and to refer the couple to a Colorectal Center.

Ulcerative Colitis of the Neovagina in a Toddler with Cloaca and Chronic Kidney Disease.

The case of a toddler with long-channel cloaca, mild chronic kidney disease (CKD) due to renal dysplasia, and early onset of ulcerative colitis (UC) is herein reported. The patient underwent definitive repair of cloaca, that included vaginal elongation with colon, at 5 months of age and was admitted for episodes of vaginal bleeding at 22 months of age. A vaginoscopy revealed a severe inflammation of the colonic neovagina. As rectal bleeding was also noticed, she underwent a colonscopy that showed the same macroscopic inflammatory picture. Neovaginal and colonic biopsies confirmed UC. The mother turned out to be affected by UC since adolescence. The patient is now on oral therapy with mesalazine and topical steroid and mesalazine in the neovagina. The association between cloaca and inflammatory bowel disease (IBD) is anecdotal, but the family history of IBD should be considered when planning the surgical reconstruction of patients with cloaca. In this patient, the occurrence of UC may require a new neovagina in the future and the concomitance of CKD may complicate the overall management due to the potential nephrotoxicity of drugs used for UC therapy.

Gynecological and psycho-sexual aspects of women with history of anorectal malformations.

PURPOSE: Women with anorectal malformation (ARM) are expected to have a normal life span, therefore, gynecological and psycho-sexual issues are also important. Aim of the study was to assess these aspects in adult females with history of ARM. METHODS: Thirty-seven women from two ARM referral centers, aged ≥ 16, were identified. Gynecologic visit, cervicovaginal swab, pelvic ultrasound, FSH, LH, prolactin, progesterone, 17-ß-estradiol, DHEAS, testosterone, TSH during follicular and luteal phases, and administration of FSFI questionnaire to screen the female sexual functioning were performed. Data were compared with six controls. RESULTS: Nineteen patients, mean age 21.7 (16-45), participated to the study. Associated anomalies, mostly affecting limbs, vertebrae and genitalia, were present in 57.8% of cases. Mullerian anomalies were retrieved in 36.8%. Hormones' levels were normal. Concerning sexual functioning, four women (21%) reported dyspareunia or impossible penetration, four did not answer the FSFI questionnaire due to lack of confidence about their sexuality, and three scored lower than the cut-off value for female sexual function. CONCLUSION: This study confirms the importance of a multidisciplinary long-term follow-up for ARM patients, including a careful study of the reproductive tract to detect and treat those conditions that could affect the fertility. Moreover, an appropriate psychological support should be provided.

Should the search for ganglia in the distal rectal fistula in patients with anorectal malformation be abandoned?

PURPOSE: Occurrence of Hirschsprung's disease in anorectal malformation (ARM) patients is rare, but many surgeons still ask to pathologists to search for ganglia in the terminal rectum/fistula; the histological procedure is time and money consuming and the results confounding. A consecutive series of ARM patients, in which the presence of ganglia in terminal rectum was revised, is herein presented. MATERIALS AND METHODS: Rectal specimens of ARM patients who underwent corrective surgery in the last 6 years were retrieved. The histological protocol included H&E staining and calretinin immunohistochemistry. Each specimen is processed until all material is examined if no ganglia are retrieved after the first twelve sections. RESULTS: Forty cases were examined. Eight patients were younger than 1 month of age at operation. The mean length of the specimen was 1.5cm (range: 1-3 cm). Upon clinical request, ganglia were searched in 15/40 cases (37.5%) and resulted absent in 10/15 (66.5%). All patients have been followed and none developed signs or symptoms suggestive for Hirschsprung. CONCLUSIONS: The practice to search for ganglia in the terminal rectum/fistula in ARM patients should be abandoned, as incidence of associated colorectal diseases is rare. Moreover, the procedure is expensive both in terms of laboratory's reagents and working time of expert pathologists and technicians. LEVEL OF EVIDENCE: Level IV (Case Series with no Comparison Group).

Meckel's diverticulum and bowel obstruction due to phytobezoar: a case report.

Meckel's diverticulum is a common anomaly of the gastrointestinal tract. The most common complications of Meckel's diverticulum are inflammation, bleeding and obstruction. We present a 12-year-old boy with bowel obstruction due to phytobezoar in a Meckel's diverticulum. We describe diagnostic difficulties and our surgery approach comparing it to the literature.

Cadaver kidney transplantation and vascular anomalies: a pediatric experience.

BACKGROUND: The incidence of donor kidneys with vascular anomalies ranges from 18% to 30%; such kidneys are usually at increased risk of vascular and urological complications. The aim of this study was to determine whether the use of cadaver kidneys with vascular anomalies would adversely affect posttransplant graft and patient outcome. METHODS: From October 1987 to January 2004, 241 patients underwent kidney transplantation in our pediatric surgery department. Vascular anomalies were noted in 77/241 grafts (31.9%); 50 (64.9%) had multiple renal arteries and 22 (28.5%) venous anomalies. Patients were divided into three groups: Group A (1 renal artery and vein, 1 arterial and venous anastomosis [n = 161]), Group B (> 1 renal artery or vein, 1 arterial and venous anastomosis [n = 33]), and Group C (> 1 renal artery or vein, > 1 arterial and venous anastomosis [n = 47]). We compared the three groups for: patient and graft survival, incidence of posttransplant acute tubular necrosis, vascular and urological complications, postoperative mean creatinine levels, and posttransplantation hypertension. RESULTS: We found no significant differences among the three groups regarding episodes of acute rejection or acute tubular necrosis. Creatinine levels reached normal levels within 30 days in all the groups without any significant differences. Furthermore, patient and graft survival were excellent (100% and 97%). CONCLUSIONS: The presence of vascular anomalies and their multiple or complex repair does not represent a theoretical disadvantage even in pediatric patients. In order to maximize the quantity and quality of donor kidneys especially in pediatric population, kidneys with vascular anomalies may be implanted with very little risk.