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.

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.

Home pelvic floor exercises in children with non-neurogenic Lower Urinary Tract Symptoms: Is fitball an alternative to classic exercises?

INTRODUCTION: Biofeedback with home pelvic floor exercises were recommended as non-pharmacologic treatment for non-neurogenic Lower Urinary Tract Symptoms (LUTS) in children. Fitball is recommended to improve all-over flexibility, balance, and coordination, especially for pelvic floor. Aim of the study was to investigate efficacy of standard home pelvic floor exercises versus exercises using fitball. METHODS: From April 2021 to February 2022 to all children arrived in our clinic with non-neurogenic LUTS nonresponder at urotherapy, our pelvic floor rehabilitative program was proposed. During the rehabilitation children performed: standard urotherapy, pelvic floor animated biofeedback therapy and pelvic floor exercises in a standard way and using a fitball. After the first session, patients received prescription to repeat at home the same exercises performed at hospital. Children who chose classic exercises were enrolled in group A and they who chose fitball in group B. Continence rate, pelvic floor muscles activity, adherence and satisfaction were evaluated by means of bladder diary, external pubococcygeus test and Likert-type psychometric scale (from 1 = very unsatisfied to 5 = very satisfied) respectively. RESULTS: Twenty-six children affected by LUTS were enrolled: 13 in group A and 13 in B. At 4th control urinary incontinence was reduced by 72,5% in A and 71.4% in B. Pubococcygeus test increased in both groups. Adherence at home was 92% in group A and 62% in group B. Satisfaction with the treatment (4 or 5 points) was 95% in both groups. Four patients of group A and all of group B decided to maintain home exercises including fitball. CONCLUSIONS: Our preliminary study shows that efficacy of home exercises, with or without fitball, is comparable. Satisfaction with fitball is high, regardless results obtained, because parents and children have learned a new, interesting and stimulating way to manage urinary problems. The opportunity to perform these exercises using fitball, it's an important finding for pediatric population.

Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

PURPOSE: Caudal regression syndrome (CRS) is a rare congenital abnormality including orthopedic deformities, urological, anorectal, and cardiac malformations. The clinical spectrum of CRS varies in severity, therefore multiple surgeries and complex medical care may be required with the efforts and support of a multidisciplinary team to ensure the most accurate treatment and the best outcome. The aim of our retrospective study was to evaluate the role of a multidisciplinary treatment and the long-term outcome in patients with severe CRS. METHODS: Clinical, surgical and psychological data were collected for all patients with diagnosis of CRS, treated at our Pediatric Hospital from January 1995 to December 2020. Patients with a severe form of CRS according to Pang's classification were included in the study. All patients have been followed by a multidisciplinary team composed by urologists, neurosurgeons, neonatal and digestive surgeons, orthopedic surgeon, physiatrists and psychologists. On admission, patients were screened for CRS with sacrum, spine and legs X-ray, spine MRI, renal ultrasound, voiding cystography and urodynamic, and renography. Clinical data about bowel function were evaluated. RESULTS: During the study period, 55 patients with CRS were treated at our Institution. Six out of 55 (10.9%), presented with severe form of CRS (5 pts with type 1; 1 pt, with type 2) and represent our study group. Diagnosis of severe CRS was made at birth because of the typical deformities of the pelvis (fusion of the iliac wings), and of the lower extremities (undeveloped legs with flexion of the knees, clubfoot). All patients presented with neurogenic bladder, 4/6 (66.6%) with vesicoureteral reflux (VUR) and 2/6 (33.3%) with renal agenesia and contralateral ectopic hypoplastic kidney. Bowel symptoms occurred in 5/6 pts (83.3%). All patients were started with an earlier clean intermittent catheterization (CIC) regimen. In 3 patients oxybutynin has been effective or well tolerated, while in other 3 onabotulinumtoxin A has been used. Vesicoureteral reimplantation has been performed in 1 patient, 2 required endoscopic treatment of VUR. On long-term, 2 patients required bladder augmentation with ileum and appendicostomy (Mitrofanoff). Low adherences in CIC have been observed in three patients, mainly at puberty. Two patients presented with chronic renal failure. One patient reported suicide proposal. Regarding social life, only one is regularly performing sport activity. CONCLUSION: CRS is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. Management of CRS includes a wide variety of interventions to address the full spectrum of possible anatomical abnormalities. Hence, a multidisciplinary team is also mandatory for a correct bladder and bowel management, in order to maintain continence and preserve renal function, improve quality of life and increase self-esteem.

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.