As previously reported, gastroesophageal reflux (GER) is a frequent and severe medical complication of Cornelia de Lange syndrome (CDLS). The incidence of GER and the correlation between its presence and degree, and the clinical phenotype of CDLS (mild/classical according to Van Allen classification) were evaluated in a series of 43 patients. The pattern of presenting symptoms and their clinical evolution after medical or surgical treatment were also studied. A pathological GER was evident in 28/43 (65%) CDLS patients. The incidence of the complication was not significantly different in patients with classical (93.3%) vs. mild phenotype (82.3%), whereas a strong correlation was present between the degree of the esophageal damage and the clinical phenotype. A behavioral symptom (hyperactivity) was the most frequent sign associated with the condition (85%). Our data confirm the high occurrence of GER in CDLS patients, independently from the CDLS clinical phenotype. Regarding the severity of the esophageal lesions, a significant difference between the two clinical CDLS phenotypes was found. The evaluation of the presenting symptoms and of their evolution during the treatment emphasizes the importance of behavioral symptoms as major signs of esophageal damage in CDLS.

Despite advancements in catheter design and dialysis technique, catheter related complications still remain a common clinical problem in paediatric patients on chronic peritoneal dialysis (PD); in particular, infections are a common cause of patient's morbidity and technique failure. In the present paper, data on 89 catheters implanted between January 1986 and December 2002 are reviewed to analyse the major causes of complications and/or PD failure and to ascertain their optimal management. A total of 89 catheters were implanted in 78 patients at the start of chronic PD: 26 in children under 2 years of age, 14 in children aged 2-5 years and 49 in patients over 5 years. Mean age of patients was 76.1 +/- 73.0 months and median treatment time 14.5 +/- 13.1 months. All catheters were surgically implanted and partial omentectomy was performed in 70% of cases. Straight Tenckhoff catheters were used in 70 cases (78%), curled ones in 19 (22%). Sixty-three catheters (71%) had two cuffs, 26 (29%) a single cuff. The entry-site was the midline in 34 patients (38%) and the paramedian line in 55 patients (62%). Catheter survival rate was 80% at 12 months, 62% at 24 months and 58% at 36 and 48 months, respectively. The incidence of catheter-related complications was one episode every 6.4 PD-months, and they were mainly represented by peritonitis (61%), exit-site infections and tunnel infection (ESI + TI: 23%), catheter obstruction (5%), dislocation (3.5%), leakage (2.5%). After the introduction of curled single-cuff catheters, a considerable reduction in the peritonitis incidence was observed during the last 7 years. A more prolonged catheter survival was observed in older children (>5 vs. <2 years: P < 0.05). Leakage was less common in catheters with paramedian entry-site compared with catheters implanted on the midline. In 7 out of 11 (64%) patients with catheter obstruction, omentectomy had not been performed. Single-cuff catheters had a lower infection-rate than double-cuff catheter (P < 0.01). Single cuff-curled Tenckhoff catheter can be considered the first choice catheter. Single cuff-catheters are not associated with an increase of infections. The surgical technique requires a strict adherence to a standardized procedure and a dedicated team, in order to obtain a reduction of the complications, a prolonged catheter duration and a better quality of life.

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