Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi syndrome (RTS) are frequent but not well-known by dentists and pediatricians due to the syndrome being extremely rare. Objective: To describe the OD findings observed in a 5-year-old girl with RTS and to update the literature. Clinical case: The patient presented the following OD manifestations: prominent lower lip, narrow mouth opening, narrow and arched palate, history of angular cheilitis, micrognathia, poor lingual motility, plaque and tartar, bleeding from gingival areas due to poor dental prophylaxis, and malocclusion in the form of an anterior open bite. These OD manifestations are seen in more than 40-60% of patients with RTS. Conclusions: Professionals who treat children with RTS should become aware of the advisability of referring them to the pediatric dentist from 1 year of age and performing check-ups every 6 months. Dental management is often difficult so collaboration with anesthesiologists is recommended in order to carry out a safe and effective treatment (AU)

Results of Treatment of Grades IV and V Vesicoureteral Reflux with Endoscopic Injection of Polyacrylate Polyalcohol Copolymer.

PURPOSE: Here we report the results of a review of a prospectively maintained database of the use polyacrylate polyalcohol copolymer (PPC) injection to correct grades IV and V VUR. MATERIALS AND METHODS: All children with grades IV and V primary VUR that presented with febrile urinary tract infection while on prophylaxis, in a 3-year period, were treated with a sub-ureteral injection of PPC. Institutional ethical approval was obtained. Exclusion criteria were incomplete bladder emptying documented on videourodynamic study, ureteral duplication, paraureteral diverticula, and poor ureteral emptying observed during fluoroscopy and previous open surgical or endoscopic treatment. Pre- and post-operative evaluation included urinalysis, renal and bladder ultrasonography, DMSA scan, and videourodynamic studies. RESULTS: Thirty-three children [36 renal units (RU)] were included with a median age of 57 months (range 7-108). There were 18 boys and 15 girls. Thirty RU had grade IV and 6 grade V VUR. Median follow-up time was 32 months (range 7-58). Reflux was cured in 32/36 RU with the first injection, but another two patients were reimplanted because of dilatation. Complications included early urinary tract infection in seven children, transient lower urinary tract symptoms in five children. Progressive ureteral dilatation was noted in four children and was treated with insertion of a double J stent. Two of these children eventually required an ureteroneocystostomy. CONCLUSION: The use of PPC to treat grades IV and V vesicoureteral reflux in young children has an overall success rate of 83.3%. Persistent ureteral dilatation was present in 11% associated with high injection volume. Future studies will attempt to maintain a high success rate reducing the volume of injection and the incidence of dilatation.

Simplified open approach to surgical treatment of ureteropelvic junction obstruction in young children and infants.

PURPOSE: Indications for laparoscopic pyeloplasty for ureteropelvic junction obstruction are steadily growing but there is still a group of young children in whom open surgery continues to be the procedure most performed by pediatric urologists. We report our results in young children and infants with dismembered pyeloplasty done through a small flank incision on an outpatient basis or during a short hospital stay. MATERIALS AND METHODS: Between April 2001 and July 2009, 45 patients with a median age of 11.2 months (range 1 to 50), of whom 72.9% were male, with confirmed ureteropelvic junction obstruction underwent classic Anderson-Hynes dismembered pyeloplasty thorough a 2.5 to 3.5 cm flank incision. Obstruction was on the left side in 51.2% of the patients. Pyeloureteral anastomosis was performed with a continuous 7-zero polydioxanone suture over a 7Fr multiperforated pyelostomy self-designed catheter in 89% of the patients. A Double-J® catheter was used in only 4 patients with other associated conditions. The stent was removed in the office 7 to 12 days after surgery. RESULTS: Mean operative time was 92 minutes (range 60 to 150). Median hospital stay was 11.5 hours (range 6 to 35) in the whole group but it decreased to 9.4 hours in the last 22 cases. There was no reoperation due to recurrent ureteropelvic junction obstruction. Mean postoperative followup was 47.5 months. CONCLUSIONS: Ureteropelvic junction obstruction surgery in small children can be done safely through a small incision with a short hospital stay without morbidity and with good cosmesis. We believe that open pyeloplasty will continue to be the best standard treatment for ureteropelvic junction obstruction surgery in small children until miniaturization and better laparoscopic instruments allow us to reproduce these results.