Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.

BACKGROUND: The human disorganization syndrome (HDS) is an extremely rare malformation syndrome that presents with a severe pattern of defects affecting different structures. METHODS: We describe a newborn girl presenting with HDS. Her clinical features included a large appendage arising from the right buttock as the only alteration, with size and shape of a lower member-like structure, and a pedicle of the extra limb structure. The surgical observations, the pathological results, evolution up to 6 months of age, and their potential causes are described, as well as a review of the literature. RESULTS: The MRI procedure also detected a multicystic mass located at the presacral region of the pelvis and perineum, without any dysraphism or other medullary anomalies. The X-ray showed that the member-like structure had an iliac wing, femur, tibia, fibula, and aberrant metatarsals. The review of the literature shows disparate defects of the published cases with HDS, which include some features pathogenically not related with this syndrome. CONCLUSION: We highlight the need to maintain restricted the clinical diagnosis for HDS to those concordant with a great disorganization of morphogenetic inductions affecting the three germ layers, which occur during the first four weeks of development. This is crucial to: (a) perform a correct diagnosis, which is essential to establish the prognosis and surgery procedures, (b) identify which is/are the cause/s, and (c) the adequate genetic counseling.

[Correlation between pneumoperitoneum and surgical findings and morbidity and mortality in newborns with necrotising enterocolitis]. / Correlación entre el neumoperitoneo y los hallazgos quirúrgicos y morbimortalidad en recién nacidos con enterocolitis necrosante.

INTRODUCTION: Surgical intervention in necrotising enterocolitis (NEC) is correct when there is intestinal gangrene. This is evident when gangrene produces perforation and pneumoperitoneum, with this being the only universally accepted radiological indication for the surgical intervention of NEC. OBJECTIVE: To perform an analysis on patients with surgically managed NEC, including determining how the decision to intervene is reached, the outcomes, and if patients with perforation had a pneumoperitoneum. METHODS: Retrospective review of neonates with surgical NEC over a period of 10years (2006-2015). An analysis was made of pre-surgical x-ray findings, which were compared with surgical ones, in addition to the morbidity and mortality, depending on the presence (N+) or absence (N-) of pneumoperitoneum. An evaluation was also made of the interobserver concordance with a paediatric radiologist blinded to the clinical reason using the kappa agreement index. RESULTS: A total of 53 neonates were included in the study. Surgical treatment was indicated after observing pneumoperitoneum in 36%. In the remaining neonates, the surgical decision was made after noting a clinical and metabolic deterioration with classical x-ray findings. Intestinal perforation was observed in 39% of the N- neonates. There were no statistical differences between either group on analysing the excised intestinal length, days of intubation, starting of enteral nutrition, and the mortality rate. Comparisons in terms of duration of symptoms and total hospital stay were statistically significant (7 vs. 2 days, P=.008; 127 vs. 79 days, P=.003, respectively), with both being more favourable in the N+ group. These differences remained when the groups were adjusted by birthweight. CONCLUSIONS: Surgical indication has to be done on an ensemble of clinical and radiological evidence, as 39% of the neonates in the N- groups were perforated. In our study, the presence of a pneumoperitoneum did not correlate with a worse prognosis.

Radiation-free monitoring in the long-term follow-up of pyeloplasty: Are ultrasound new parameters good enough to evaluate a successful procedure?

INTRODUCTION: Long-term evolution of residual hydronephrosis after successful pyeloplasty is not common. In this report, we have studied new ultrasound parameters, and have investigated the frequency of residual hydronephrosis. We highlight alternative radiation-free monitoring of pediatric pyeloplasties with ultrasound alone. PATIENTS AND METHODS: Children who had undergone successful open Anderson-Hynes pyeloplasties in the period 2001-2010 were followed up. Exclusion criteria included non-clearly obstructed renography scans (tracer clearance half-time < 20 min), crossing vessels, failed pyeloplasty, bilateral disease, other renal concomitant anomaly, absence of ultrasound measurements, and loss to follow up (<1 year). Postoperative (postoperative) ultrasound parameters were anteroposterior (AP) diameter, pelvis-cortex (P/C) ratio, a proportion that takes in account these two values, enhancing sensitivity to evaluate minimal evolutive changes), and percentage of improvement (PI) in AP diameter (which reflects in relative means the evolution of each AP diameter, being 0% no change, and 100% absence of hydronephrosis) (Figure). Echographic checks were made at 3 and 6 months postoperatively and then yearly afterwards. SPSS software (v. 17.0 IBM, College Station, TX, USA) was used. RESULTS: Out of 80 pyeloplasties performed in the above-mentioned period, 44 patients (i.e., 44 renal units) fulfilled the inclusion criteria for the main study. The median age at time of operation was 15 months (range 2 months-10.3 years). The median follow-up was 4.5 years (range 1-12 years). The mean preoperative anteroposterior diameter was 26 mm (range 16-54 mm). At the third postoperative check, the mean the PI was 29%, and rose to 53% at 6 months (p=0.027). Posterior controls showed a stable yearly PI during follow-up, without statistically significant variations (40-59% in subsequent years, p>0.5). The P/C ratio had already downgraded significantly at the third postoperative check (4.6 preoperative vs. 1.8 postoperative; p=0.03). A subgroup analysis of failed pyeloplasty (4 renal units) showed all PI < 15% at the third postoperative month (sensitivity 100%, specificity 86%). Complete resolution of hydronephrosis occurred in nine patients (20%). DISCUSSION: The P/C ratio and PI are new feasible ultrasound parameters in pyeloplasty follow-up. Early improvement in the P/C ratio can be expected and might avoid repeated ionizing scans. A PI>15% in subsequent postoperative checks might be enough for safe monitoring with ultrasound alone. Thus, renograms may be solicited only in these cases where ultrasound parameters do not improve in the first 6 postoperative months. Afterwards, ultrasound parameters often remain stable in the long term. Absence of hydronephrosis could only be documented in the long term in one out of every five patients.

[Vesicovaginal Reflux and Urocolpos]. / Reflujo Vaginal y Urocolpos.

OBJECTIVE: Vesico-vaginal reflux (VVR) is defined as the reflux of urine into the vaginal vault during voiding, occasionally seen in pre- adolescent girls. The typical history consists in post voiding leaks in the daytime, that correspond to the progressive urine discharge from the vagina, after it has been filled up during micturition. We intend to show two cases presenting with significant urocolpos. METHODS: Description of two clinical cases observed in the pediatric urology office. RESULTS: Clinical case 1.- A 10-year-old girl presented with the complaint of diurnal incontinence (in the immediate post-voiding minutes). The early voiding phase in the cystourethrogram (VCUG) demonstrated progressive gross distension of the vagina (urocolpos) due to retrograde filling as the bladder emptied. The girl was managed with behavioural modifications, and was dry afterwards. Clinical case 2.- A 9-year-old girl presented with history of incomplete voiding. In infancy, she had right-sided vesicoureteral reflux (VUR) and was endoscopically treated at the age of 2. VCUG showed VVR, and no VUR. She was then successfully treated with behavioural modifications. Clinical case 3.- A 10-year-old girl complained of diurnal urinary incontinence, described as post voiding leaks. Again, a VCUG showed VVR and a small urocolpos. After re-education of voiding habits, leaks disappeared, but recurred 6 months afterwards, when she acknowledged no adherence to the therapy. DISCUSSION: Between 12 to 15% of girls referred to Urological clinics because of urine incontinence present VVR. In the absence of a clear anatomical obstruction, reflux happens as the urine flow encounters a natural obstacle in the labia majora usually in girls that close their legs as they void. Instructions on proper voiding form a key element in the management of VVR, and if not enough, the behavioural modification consists on a reverse position during voiding.