Megacystis-microcolon-intestinal hypoperistalsis syndrome: don't forget the bladder.

PURPOSE: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a well described clinical condition, but reports are focused on microcolon and intestinal hypoperistalsis, while data on bladder management are scant. Aim of the study is to present urological concerns in MMIHS. METHODS: Retrospective evaluation of clinical data on urological management of MMIHS patients treated in the last 10 years. RESULTS: Six patients were enrolled (3 male, 3 female). Three girls had prenatal diagnosis of megacystis (1 vesicoamniotic shunt was placed). All patients had genetic diagnosis: 5 had ACTG2 gene mutations and 1 MYH11 mutation. All patients were addressed to our attention for urinary symptoms, such as urinary retention, urinary tract infections, acute renal injury. Two patients presented frequent stoma prolapses. All children underwent a complete urological evaluation, and then started a bladder management protocol (clean intermittent catheterization, via urethra or cystostomy-tube placement), with improvement of urinary infections, upper urinary tract dilation and stoma prolapses, if present. All patients had good renal function at last follow-up. CONCLUSION: We believe that MMIHS patients must be addressed soon and before onset of symptoms for a multidisciplinary evaluation, including an early assessment by a pediatric urologist expert in functional disorder, to preserve renal function at its best.

Thulium Laser for the Treatment of Posterior Urethral Valves in Infants.

Objective: Thulium laser (ThL) has become popular in urology, because of its powerful action on tissue, achieving optimal ablation and hemostasis. Aim of our article was to evaluate efficacy of ThL in infants affected by posterior urethral valve (PUV) ablation. Patients and Methods: Clinical charts of 25 infants (age ≤12 months) who underwent PUV ablation were retrospectively reviewed. According to our protocol, all patients performed voiding cystourethrography and cystoscopy 6 to 8 months after initial treatment. Several factors, including age and weight at surgery, operative time, postoperative bleeding, catheterization period, postoperative urinary retention, retreatment for valve remnants, and stricture at follow-up, were evaluated. Preoperative, intraoperative, and postoperative data were analyzed. Results: Mean age at primary surgery was 4.5 months (5 days-10.5 months) and mean weight at primary surgery was 5.7 kg (2.5-10.3 kg). Mean operative time was 29.5 minutes (range 15-50 minutes). None of the patients experienced intraoperative and postoperative bleeding. In all cases, postoperative catheterization period was 1 day. Residual valves were found in 6 of 25 (24%) patients. No cases of urethral stricture were registered during follow-up (48.4 months, range: 11-95). Analyzing literature data using other techniques, complication rate of ThL PUV ablation seems lower than standard treatments (electrofulguration, cold knife) and comparable with those reported with other laser techniques. Conclusion: PUV ablation with ThL has proven to be feasible and safe in infants. Further studies are needed to define the real effectiveness of this laser technology in PUV ablation. Miniaturized instruments and ThL technology make early PUV treatment feasible also in low body weight newborns.

Hypospadias management in children with anorectal malformation: a multidisciplinary single center experience.

Anorectal malformation (ARM) is often associated to other congenital malformations, requiring a tailored management. Hypospadias' treatment in ARM is poorly described. Aim of study is to describe our experience in ARM-hypospadias patients especially in relation to occult spinal dysraphism (OSD). ARM patients treated from 1999 to 2022 were retrospectively reviewed, selecting male with hypospadias. Clinical data, hypospadias's severity, ARM sub-type (Group A: perineal fistula; Group B: urethral fistula, bladder fistula, no fistula), OSD, other associated malformations, NLUTD were evaluated. Exclusion criteria: uncomplete data. Among 395 ARMs, 222 were males, 22 (10%) had hypospadias. Two patients were excluded. Group A: 8 patients, Group-B: 12. Hypospadias: proximal 9 patients, distal 11. Neuro-urological evaluation was performed before hypospadias repair. Eleven patients (55%) had OSD. Four OSD patients presented NLUTD and underwent detethering and CIC (two via cystostomy button, two via appendicostomy); two of them had hypospadias repaired. All proximal hypospadias underwent two stages of surgery. Distal hypospadias was corrected in 4/11 cases. Hypospadias is quite common in ARM patients and its surgical management must be scheduled considering the possible OSD and NLUTD, with the possible need for intermittent catheterization. Complexity of ARM and hypospadias appears to be related to each other.

Onabotulinum Toxin A Intradetrusor Injections in Children with Neurogenic Lower Urinary Tract Dysfunction: Long-Term Histological Effects on the Bladder Wall.

BACKGROUND: In the last twenty-five years, Onabotulinum Toxin A (BTX-A) has gained increasing popularity for neurogenic lower urinary tract dysfunction (NLUTD) treatment. To maintain its efficacy, repeated BTX-A intradetrusor injections are required over time, with unknown effects on the bladder wall in children. The aim of this paper is to report long-term effects on the bladder wall in children treated with BTX-A. METHODS: Children with NLUTD not responsive to anticholinergics were treated with BTX-A, according to our protocol, with bladder wall control using endoscopic cold-cup biopsy. Specimens were evaluated considering edema, chronic inflammation, and fibrosis. RESULTS: Of the 230 patients treated from 1997 to 2022, we considered only specimens obtained in patients who had received ≥5 treatments (36 children), considered as the threshold to evaluate clinical effectiveness on long-term treatment with BTX-A. Most of them had congenital NLUTD (25 patients) and detrusor overactivity (27 patients). In all, increased edema and chronic inflammation with reduced fibrosis over time was reported; these data were not statistically significant. No difference was observed between patients with congenital and acquired diseases. CONCLUSIONS: Repeated intradetrusor BTX-A injections are not related to significant histological alterations in children, similarly with adults, and repeated injections could be considered safe.

Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.

INTRODUCTION: Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting-in lethal variant-in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our experience with LTE, the technical modification we adopted, and patients' clinical outcome. MATERIALS AND METHODS: We retrospectively reviewed data of 11 LTE performed in 7 ATD patients with lethal variant. Information regarding pre- and postoperative clinical conditions and surgical details was collected. We adopted a single-stage or a two-stage approach based on patient clinical condition. Computed tomography (CT) scan was performed before and after surgery and lung volume was calculated. RESULTS: Five patients are alive, while two died in intensive care unit for other than respiratory cause (sepsis). Most patients experienced clinical improvement in terms of decreased respiratory infections rate, need for ventilation, and improved exercise tolerance. Postoperative CT scan demonstrated a median lung volume increase of 88%. CONCLUSION: Mortality in ADT patients is high. However, LTE is a feasible and safe surgical approach, which could improve clinical conditions and survival rate. Survived patients showed postoperatively less oxygen requirement and improved clinical conditions.

Posterior urethral valves: Role of prenatal diagnosis and long-term management of bladder function; a single center point of view and review of literature.

Posterior Urethral Valves (PUV) are the most common cause of lower urinary tract obstruction. More severe forms are detected early in pregnancy (mainly type I), while other forms are usually discovered later in childhood when investigating lower urinary tract symptoms. Bladder dysfunction is common and is associated with urinary incontinence in about 55% (0%-72%). Despite the removal of the obstruction by urethral valve ablation, pathological changes of the urinary tract can occur with progressive bladder dysfunction, which can cause deterioration of the upper urinary tract as well. For this reason, all children with PUV require long-term follow-up, always until puberty, and in many cases life-long. Therefore, management of PUV is not only limited to obstruction relief, but prevention and treatment of bladder dysfunction, based on urodynamic observations, is paramount. During time, urodynamic patterns may change from detrusor overactivity to decreased compliance/small capacity bladder, to myogenic failure (valve bladder). In the past, an aggressive surgical approach was performed in all patients, and valve resection was considered an emergency procedure. With the development of fetal surgery, vesico-amniotic shunting has been performed as well. Due to improvements of prenatal ultrasound, the presence of PUV is usually already suspected during pregnancy, and subsequent treatment should be performed in high-volume centers, with a multidisciplinary, more conservative approach. This is considered to be more effective and safer. Primary valve ablation is performed after clinical stability and is no longer considered an emergency procedure after birth. During childhood, a multidisciplinary approach (pediatric urologist, nephrologist, urotherapist) is recommended as well in all patients, to improve toilet training, using an advanced urotherapy program with medical treatments and urodynamic evaluations. The aim of this paper is to present our single center experience over 30 years.