Bladder Dysfunction in Children with Neurofibromatosis Type I: Report of Four Cases and Review of the Literature.

AIM: Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder. Malignant transformation into malignant peripheral nerve sheath tumors (MPNST) can occur. However, urinary tract involvement is rare. We report 4 cases of NF1 with bladder dysfunction. METHODS: A retrospective single center analysis of 4 patients was conducted over a 17-year period, focusing on urinary tract involvement. RESULTS: NF1 was diagnosed at a median of 16.5 months (4-36) and urinary involvement occurred at a median of 5.25 years (4-9) after diagnosis. Bladder dysfunction was due to spinal cord compression in 2 cases, bladder invasion in 1 case, and cerebral lesions in 1 case. Malignant transformation of neurofibromas into MPNST occurred in 2 patients. Mechanisms of urinary involvement in NF1 are diverse and no pre-established protocol of management and follow-up exists. CONCLUSION: Although rare, dysfunction of the bladder can arise in NF1 and innovative strategies then need to be considered. This is best achieved with the help of a multidisciplinary team and a national reference center when available.

Validation of the French version of the Caregivers' Priorities and Child Health Index of Life with Disabilities questionnaire.

INTRODUCTION: The Caregivers' Priorities and Child Health Index of Life with Disabilities (CPCHILD) is a questionnaire that measures the health-related quality of life (HRQL) of children with cerebral palsy (CP). Though measuring HRQL is challenging in these children, it is a valuable help for medical decision-making. There is no questionnaire to assess HRQL in French-speaking children with severe CP. OBJECTIVE: To translate and adapt transculturally the CPCHILD questionnaire into French (CPCHILD-FV). MATERIAL AND METHODS: The CPCHILD was translated from English into French by forward and backward translation by independents translators. The questionnaire was then tested on 32 caregivers of patients with CP classified as GMFCS IV or V, remarks of caregivers were analyzed by an expert committee and, if necessary, modifications were performed. Internal consistency of the CPCHILD-FV was assessed using a sample of 32 parents or caregivers and test-retest reliability was assessed on a random sample of 10 patients. RESULTS: The translation and transcultural process resulted in a French version of the CPCHILD. Some items of the CPCHILD required careful discussion to ensure that items had the same meaning as in the original. Internal consistencies were over 0.70 for each domain except for health, and 0.97 for the total scores. The ICC for the test-retest reliability of the CHILD-FV total score was 0.98 (95% CI: 0.93-0.99) and ranged from 0.59 to 0.99 for the domains. CONCLUSION: The translation and cross-cultural adaptation of the CPCHILD questionnaire provides a French version than can measure the HRQL of children with severe CP. LEVEL OF EVIDENCE: IV; prospective study without control group.

Biofeedback therapy in the treatment of bladder overactivity, vesico-ureteral reflux and urinary tract infection.

OBJECTIVE: Voiding disorders are commonly encountered in paediatric urology practice. Urinary incontinence often leads to the impairment of self-esteem but can also cause renal damage, when recurrent urinary tract infection (UTI) or vesico-ureteral reflux (VUR) exists. The aim of this study was to assess the efficacy of a biofeedback training program in children with a long history of voiding disorders. PATIENTS AND METHODS: Between 1998 and 2002, 60 children with voiding disorders without neuropathic disease, aged 5-14, were treated. There were 48 girls and 12 boys. The main symptoms were daytime incontinence for 90%, urge syndrome for 78%, and night-time incontinence for 60%. UTIs were noted in 62% of the children, for 37% of them in association with a VUR. Ten weekly sessions were planned for all the children. They were given instructions on toilet behaviour and posture, and pelvic floor training. They had to supervise their voiding frequency and liquid intake at home using a chart. Biofeedback procedure used surface perineal electrodes. The exercises focused on relaxation of the perineum. RESULTS: The first results were recorded 6 months after the last session: 96% of the children with daytime incontinence and 83% of the children with night-time incontinence were cured or improved; 84% of the children were free from infection and VUR was cured in 50% of cases. After a mean follow-up of 21 months, 8% of the children with daytime incontinence and 33% with night-time incontinence relapsed, with a significant difference between primary and secondary enuresis. A breakthrough UTI was observed in 19% of cases. CONCLUSION: This non-invasive training program was effective in the treatment of daytime incontinence, UTI and VUR. There was an improvement in secondary but not primary enuresis. To prevent relapse, additional support sessions seem to be necessary.