Coeliac disease and Cornelia de Lange syndrome: lack of association.

Objectives: Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by growth and mental retardation, abnormalities of the upper limbs, gastroesophageal dysfunction, cardiac, ophthalmologic and genitourinary anomalies, hirsutism and characteristic facial features. Growth retardation, behavioural disturbances and gastro-intestinal manifestations can mimic coeliac disease (CD). Genetic conditions like Down, Williams and Turner syndromes can be associated to CD.

Chronic peritoneal dialysis in children: catheter related complications. A single centre experience.

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.

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms.

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.

Helicobacter pylori stool antigen test: a method to confirm eradication in children.

We evaluated an antigen-based stool assay as an indicator of Helicobacter pylori (Hp) status during treatment aimed at eradicating Hp in 22 Hp-positive patients and 63 negative control patients. The sensitivity and specificity of the assay was 100% and 70%, respectively, when the manufacturer's cutoff was used. When we used the cutoff calculated from a receiver operating characteristic curve, the specificity of this test increased.

Surgical treatment of the redundant interposed colon after retrosternal esophagoplasty.

Redundancy of the interposed colon used as an esophageal substitute is a common finding in the long-term follow-up of these patients. When symptoms caused by food retention in the colonic loop occur, surgical correction is necessary to improve quality of life and to prevent aspiration. We report a technique to straighten the redundant colon that consists of a side-to-side colocolic anastomosis using a linear stapler.