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Background: Esophageal varices (EV) are a complication of cystic fibrosis-associated liver disease. Esophagogastroduodenoscopy (EGD) is currently used to diagnose varices but is invasive for pediatric patients. The goal of this study was to explore the relationship between transient elastography (FibroScan®) and the presence of EV in patients with liver disease defined by clinical, laboratory, sonographic, and/or endoscopic criteria., Methods: 18 patients with cystic fibrosis underwent EGD and transient elastography. 12 patients had EV., Results: Patients with EV had higher FibroScan values than those without varices with median values of 22.4 kPa (14.4-30.4 kPa) vs. 7.9 kPa (4.4-13.7 kPa) (p=0.01). Using a threshold of 12 kPa, four of six patients without EV would not have needed EGD., Conclusions: Elastography should be recommended for all cystic fibrosis patients with liver disease to follow its progression. A prospective study is needed to define an elastography threshold value that predicts the presence of EV., (Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)

Background: Familial defective apolipoprotein B-100, a dominantly inherited form of hypercholesterolemia caused by a single Arg3500Gln mutation, is silent in childhood but may confer a high risk of cardiovascular disease in adulthood. The objective was to determine the prevalence of familial defective apolipoprotein B-100 in hypercholesterolemic French children and to provide a basis for targeting screening efforts in this population., Methods: One hundred ninety children attending 13 pediatric clinics distributed throughout France were included based on the presence of type IIa hypercholesterolemia with a plasma low-density lipoprotein-cholesterol level of more than 130 mg/dL. The Arg3500Gln mutation was detected in dried blood spots using a polymerase chain reaction assay combined with enzymatic restriction., Results: Three hyperlipidemia phenotypes were found: monogenic dominant pure hypercholesterolemia (n = 117), polygenic hypercholesterolemia (n = 43), and combined hyperlipidemia (n = 11). Three unrelated children were heterozygous for the Arg3500Gln mutation; all three had monogenic dominant pure hypercholesterolemia (3/94 families; 3.2%), yielding a prevalence of 1.83% (3/164) in hypercholesterolemic children, which is similar to prevalences reported in European adults., Conclusions: The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.

Background & Aims: Oral rehydration therapy is the only treatment recommended by the World Health Organization in acute diarrhea in children. Antisecretory drugs available could not be used because of their side effects, except for racecadotril, which is efficient in acute diarrhea in adults., Methods: The efficacy and tolerability of racecadotril (1.5 mg/kg administered orally 3 times daily) as adjuvant therapy to oral rehydration were compared with those of placebo in 172 infants aged 3 months to 4 years (mean age, 12.8 months) who had acute diarrhea. The treatment groups were comparable in terms of age, duration of diarrhea, number of stools, and causative microorganism at inclusion., Results: During the first 48 hours of treatment, patients receiving racecadotril had a significantly lower stool output (grams per hour) than those receiving placebo. The 95% confidence interval was 43%-88% for the full data set (n = 166; P = 0.009) and 33%-75% for the per-protocol population (n = 116; P = 0.001). There was no difference between treatments depending on rotavirus status. Significant differences between treatment groups were also found after 24 hours of treatment: full data set (n = 167; P = 0.026) and per-protocol population (n = 121; P = 0.015). Tolerability was good in both groups of patients., Conclusions: This study demonstrates the efficacy (up to 50% reduction in stool output) and tolerability of racecadotril as adjuvant therapy to oral rehydration solution in the treatment of severe diarrhea in infants and children.

Background: The aim of this study was to assess the bone mineral density of cystic fibrosis patients., Patients and Methods: We have retrospectively studied 45 patients with cystic fibrosis, 22 females and 23 males, aged between six and 27 years (mean 13 +/- 5.5 years). Nutritional status, Shwachman score, pulmonary function, serum calcium and 25-hydroxyvitamin D levels and lumbar bone mineral density by dual energy X-ray absorptiometry were assessed., Results: The average height of the patients was 97 +/- 4% (range: 86-106) and body mass index 93 +/- 10% (range 77-114) of the normal values of age. The average Shwachman score was 80 +/- 11/100 (range: 47-96). The forced expiratory volume in 1s was 80 +/- 29% (21-128) and the vital capacity 85 +/- 21% (range: 40-122) of the predicted values. The serum levels of calcium and 25-hydroxyvitamin D were lower than normal values in six cases and one case respectively. Thirty-eight patients had a mean lumbar spine bone mineral Z-score which was -1.35 +/- 1.2 DS and 84.7 +/- 13.5% of the normal values. It was correlated with the height, the body mass index, the Shwachman score, the FEV 1 and the vital capacity., Conclusion: Decreased bone density is frequent among cystic fibrosis subjects. It shows a lack of control of the illness. It remains unknown with usual investigation; the dual X-ray absorptiometry should, each time it is possible, take part of investigations in those patients.

Background: Dorfman-Chanarin syndrome is an uncommon condition characterized by non-bullous congenital ichtyosiform erythrodermia and lipid vacuoles in circulating leukocytes., Case Report: We report an unusual presentation in a child who had a dry congenital ichtyosiform erythroderma. Blood smears revealed lipid vacuoles in granulocyte cytoplasm, leading to the diagnosis of Dorfman-Chanarin syndrome. The child also had liver and ophthalmologic involvement., Discussion: Dorfman-Chanarin syndrome is a rare autosomic recessive hereditary disease (27 cases reported in the literature) related to the accumulation of neutral lipids in organ tissues. Clinical manifestations are dry congenital ichtyosiform erythroderma and lipid vacuoles in circulating granulocytes. The syndrome may be expressed more or less severely in several organs. Diagnosis is confirmed on blood smears. The vacuoles can also be observed in smears of heterozygous subjects and can serve as a screening test. The pathogenesis of Dorfman-Chanarin syndrome is poorly understood but appears to be related to perturbed intracellular triglyceride catabolism. Treatment is symptomatic.

Unlabelled: Malformative uropathies diagnosed in utero are increasing in number. This work describes the decision strategy adopted in Angers concerning the neonatal handling of those abnormalities., Patients and Methods: One hundred children born between 1988 and 1990, with prenatally suspected fetal uropathy, were included in the study and followed for a period of 3 years. In every case, an ultrasound scan was performed at birth. In cases with persistent abnormality, a voiding cystourethrography was done in the first week of life. An intravenous urograph and/or a nuclear renography were performed during the second month of life., Results: Twenty-nine children were normal. Seventy-one were affected by 126 isolated or related uropathies; the most frequent ones were the ureteropelvic junction obstruction syndrome (48), ureterovesical junction obstruction (18) and multicystic kidneys (13). A vesicoureteral reflux was associated in 22% of cases. The diagnosis was perfectly correlated with the prenatal diagnosis in 50% of cases. Fourteen of the normal children had a later ultrasound scan control, between 2 and 9 months; later on, three of them showed a moderate ureteropelvic junction obstruction syndrome. Amongst the 48 ureteropelvic junction obstruction syndromes, 22% have been operated on. The others obstructive uropathies remained stable or spontaneously improved., Discussion: These results require us to discuss as matter of priority the large number of spontaneously regressive prenatal hydronephrosis and the necessity to establish a consensus for the pre and postnatal pathological thresholds of the anteroposterior pelvic diameter, the interest in carrying out a voiding cystography after the birth when dilatation is confirmed, the interest of nuclear renography for the diagnosis and follow-up of obstructive uropathies and the absence of urgency for surgery., Conclusion: We propose a decision tree specifying the action to take when facing the diagnosis of a prenatal hydronephrosis. It could be a part of the reflection for the medical teams handling these uropathies is the aim of a consensual attitude which is now essential.

Background: Pseudomembranous colitis is a rare and serious complication of treatment by antibiotics. The case of a patient with a protracted pseudomembranous colitis followed by two relapses is reported., Case Report: A 4 year-old boy was admitted after 18 days of profuse and feverish diarrhea. He had been given amoxycillin for 10 days, one and a half months previously. His temperature was 40 degrees C; he had abdominal pain and leucocytosis was 30,000/mm3. The situation rapidly improved with digestive rest and i.v. antibiotic therapy. Relapse of diarrhea together with bilious vomiting and acute abdominal pains required readmission three days after his discharge. Search for Clostridium difficile in stools remained negative. The diagnosis of pseudomembranous colitis was confirmed by sigmoidoscopy and intestinal biopsy. The patient was given parenteral nutrition for 3 weeks and vancomycin. The disease was complicated by anasarca related to severe protein-loosing enteropathy but evolution was finally favourable after a two month period., Conclusion: Pseudomembranous colitis remains a serious affection in childhood; its prognosis largely depends on the precocity of diagnosis and treatment.

An open multicenter study was performed to assess the efficacy and safety of alginic acid in two different dosages in 76 pediatric patients with gastroesophageal reflux confirmed by pH monitoring. Among the 69 patients in whom endoscopy was carried out before treatment, 18 had erythematous esophagitis and 5 had erosive esophagitis. Irrespective of the dosage used, the frequency of regurgitation and vomiting decreased significantly (p < 0.00001 and p = 0.01, respectively). Clinical and biochemical tolerance were outstanding and no adverse effects were recorded. On the basis of these data, the recommended dosage is 1 to 2 ml/kg/day in divided doses after meals.

Background: Conventional insulin therapy for diabetes mellitus is sometimes inadequate for controlling metabolic disturbances in young children; the risk of hypoglycemia is particularly high at this age., Methods: Ten newly-diagnosed insulin-dependent diabetic children aged 1 to 7 years were treated by continuous subcutaneous insulin infusion using a portable pump. The mean duration of treatment was 17 months (4 to 42 months)., Results: The mean individual capillary blood glucose calculated over periods of 6 months ranged from 84 +/- 23 to 206 +/- 97 mg/dl. The glycosylated hemoglobin values were 6.5 to 8.9% during the same period. There was no hypoglycemic coma; 7 children experienced a total of 16 episodes of ketonuria. The average daily dose of insulin used by these 10 patients was 0.72 +/- 0.24 units/kg., Conclusion: Continuous subcutaneous insulin infusion is a feasible therapy and it was well tolerated even in the youngest children. External insulin infusion devices appear to be an alternative to conventional insulin therapy and a way of overcoming the therapeutic difficulties encountered with these young patients.

To investigate the capacity of bacterial filters to prevent complications of the central venous nutrition in neonates, 100 percutaneous central catheters were placed in 94 neonates: 50 catheters was used with a bacterial filter and 50 without filter. No significant difference appeared between the 2 groups for the frequency of complications. Complications should be avoided with a rigorous technique in the maintenance.

Eighty-three children presenting with symptomatic gastro-esophageal reflux (GER) (48 males, 35 females, aged 15 days to 57 months (mean = 7 months) were assessed by pH monitoring. All showed acid pathological GER on the 3 hours post-prandial esophageal pH measurement (% of time at pH less than 4 greater than 4.2) and all had a second pH measurement within the following 3 hours after intake of a single (5 ml) dose of sodium alginate (AGS). AGS administration was followed by a highly significant reduction (p less than 0.00001) of all pH measurement variables: a) Percentage of time spent at pH less than 4 returned to normal with a mean 11.7% to 4.8%; that is a 52.5% improvement (median); b) Total number of reflux reduced on average from 8.9 to 5.0: that is a 35% improvement (median); c) Mean duration of reflux reduced on average for 4 to 2 min; that is a 60% improvement (median). In 76 patients hourly monitoring of % of time spent at pH less than 4 shows that hourly improvement persists.

A boy of 6 with diabetic ketoacidosis presented with a disturbance of lipid metabolism characterised by eruptive xanthomata, hepatomegaly, lipaemia retinalis, milky serum and hypertriglyceridemia with type V electrophoretic pattern. All the findings are typical diabetic hyperlipidaemia. The severity of the abnormalities are not solely due to delay in treatment because they are also caused by the unusual sensitivity of lipoprotein lipase to insulin deficiency. A histological and ultrastructural study of the xanthomata was performed.

An acute pancreatitis was observed in 2 children belonging to two unrelated families in which a total of 8 kindreds also had pancreatitis. Evolution was so severe that it demanded parenteral feeding and partial pancreatectomy with Wirsung-intestinal shunting. The authors stress: the rarity of this condition (which has a dominant autosomal transmission), the lack of specificity, the severity in which pseudocysts predominate, the further occurrence of both diabetes and external pancreatic deficiency and finally, the risk of pancreatic carcinoma.