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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.

Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder, which presents as a protracted diarrhea in early neonatal life. We describe the clinical history, diagnostic evaluation, and management of 7 children with CGGM in western France. There were 4 girls and 3 boys from 5 families, born between 1984 and 2010. The principal complaint was a neonatal onset of watery and acidic severe diarrhea complicated by hypertonic dehydration. The diarrhea stopped with fasting. In 2 cases, the family history supported the diagnosis. In the other cases, elimination of glucose and galactose (lactose) from the diet resulted in the complete resolution of diarrhea symptoms. In 2 cases, the H2 breath tests were positive. In 2 cases, the HGPO or oral glucose tolerance test (OGTT) demonstrated an abnormal curve with glucose and a normal curve with fructose. DNA sequencing was not used. When glucose and galactose were eliminated from the diet, the infants had normal growth and development. In conclusion, CGGM is a rare etiology of neonatal diarrhea; however, the diagnosis is easy to make and the prognosis is excellent.

Human metapneumovirus (hMPV), a recently identified respiratory virus, is a leading cause of acute respiratory tract infection in children during winter. The aims of this study were to outline epidemiological and clinical presentations of hMPV infectious diseases in young children.A prospective study was conducted from November 2007 to April2008 in children under 2 years of age admitted to the University Children's Hospital of Tours, France, for acute respiratory infection. Nasopharyngeal aspirates were systematically tested for several respiratory viruses. Epidemiological and clinical characteristics of hMPV-infected children were compared to those of patients with respiratory syncytial virus (RSV) and other viral (OTH) infections.A total of 374 children were enrolled in this study. Viral investigations detected 22 (6 %) hMPV infections, 177 (47 %) RSV infections, and 175 (47 %) presumed or demonstrated other viruses. The hMPV infection had a seasonal peak in December, similar to RSV, and was uncommon after January. Most of the patients infected with hMPV were under 1 year of age and bronchiolitis was the predominant diagnosis in 90 % of these patients with clinical symptoms of a lower respiratory tract infection. The severity of the disease, estimated from the requirement of respiratory or nutritional assistance, was similar to those of RSV patients, but was higher than those in the OTH group. hMPV was more frequently detected in patients with chronic pathology, such as bronchopulmonary dysplasia, congenital heart defect, or neuromuscular disorders, and in patients who had been previously admitted for bronchiolitis.These results highlight that hMPV plays an important role in seasonal acute respiratory tract infections in children during winter, with a severity similar to RSV infections.

ACROLIMUS (FK 506) is a macrolide antibiotic derived from the fungus Streptomyces tsukubaensis .I n vitro studies have shown that its immunosuppressive potency is 50 to 100 times higher than that of cyclosporine (CsA). This new drug (Prograf) opened up very interesting prospects in the prevention and curative treatment of acute or chronic steroid-resistant rejection occurring after transplantation of solid organs. Tacrolimus is usually well tolerated. The side effects are similar to those of CsA (nephrotoxicity, hypertension, neurotoxicity, diabetes) but less frequent. 1 Tacrolimus induces less hypertension than CsA, which permits reduction of antihypertensive treatments. In view of the higher incidence of hypertension in young transplant subjects, tacrolimus has an advantage over ciclosporine in this population. 2 The dosage for adults is between 0.1 and 0.3 mg/kg/d, taken in two separate doses. The doses required to obtain blood concentrations between 5 and 15 ng/mL are usually higher in children than in adults. We report a case of accidental intoxication by tacrolimus in a young infant having undergone liver transplant. There was a favourable outcome in spite of the high amount ingested.

Pediatric non hypertrophic pyloric stenosis (NHPS) are uncommon. Their causes and treatments are debated.Retrospective review of all cases of NHPS from 3 pediatric surgery services during the period 1984-2002.Six children, aged 17 months to 15 years, underwent surgery for NHPS. Clinical symptoms, food vomiting and loss of weight, were present for several weeks before the diagnosis of NHPS was made. The diagnosis was peptic stenosis in 3 cases and has not been established in 3 cases. Search for Helicobacter pylori was negative in all cases. Failure of specific medical treatment and endoscopic dilatations led to pyloric resection in 3 cases and pyloroplasty in 3 cases. Post operative course was uneventful with normal oral feeding and normalisation of weight status. Histologic data were aspecific. No recurrence was observed.We discuss the origin of the pyloric stenosis, regarding clinical, operative and pathological data: were the stenosis the cause or consequence of peptic ulcer? Peptic disease is always advocated, but difficult to prove and may be excessively incriminated. Late symptomatic congenital and acquired idiopathic pyloric stenosis should be recalled. In all cases of proved pyloric stenosis, after failure of medical and endoscopic treatment, a simple surgical procedure (pyloroplasty) associated with medical treatment seems to be effective.The diagnosis of NHPS should be suspected in a child with food vomiting and loss of weight if his age is not concordant with hypertrophic pyloric stenosis. Upper gastro-intestinal series and endoscopy are diagnostic. The precise cause of the stenosis is more difficult to asses. When the medical treatment fails, a pyloroplasty is usually curative.

Castleman's disease is a lympho-proliferative disease of unknown cause. This rare disease, usually localized, is benign and develops in the young adult. The predominant localization is mediastinal.A 15 month-old infant was referred for a left latero-cervical mass that had developed since the age of 3 months. Other than this, the clinical examination was normal. Sonography, x-ray and tomodensitometry confirmed the unique nature of the lesion and the absence of loco-regional invasion. Histology following surgical exeresis found a nodule with multiple pseudo-follicular structures. These mitosis-rich structures were arranged concentrically around a vessel and were bordered by small lymphocytes forming a crown. This histological aspect corresponded to Castleman's disease in its vascular hyaline form. Local recurrence was reported twice, 2 and 8 years later and was treated each time with surgical exeresis. Histological examination was always similar to the first.Castleman's disease has rarely been reported in infants. The cervical location, at whatever age, is far rarer than the mediastinal form. Supplementary examinations are not always of interest and basically provide information on the isolated or multicentric nature. Surgical exeresis was justified because of the diagnostic doubts and the risk of compression. Diagnosis is based on anatomopathology. Relapses have rarely been described in the literature and raise the question of the potential malignant transformation after several relapses.

To estimate the burden of hospitalized infectious gastroenteritis of children younger than 5 years of age and associated costs.We analyzed 1997 hospital discharges with a primary diagnosis of gastroenteritis or a secondary diagnosis of gastroenteritis with gastroenteritis symptoms or complications as primary diagnosis and compared the deaths with those of the national mortality data.Gastroenteritis was associated with 51,125 hospitalizations which accounted for 11.4% of hospitalization discharges for this age group and an annual rate of 1,385 per 100,000 children5-year-old. Most gastroenteritis (56%) were registered as "probably infectious", 36% as "viral" (43% of which were coded "rotavirus") and 8% as "bacterial" (of which 60% were coded "Salmonella"). The seasonal peak was winter for rotaviral, viral and "probably infectious" gastroenteritis, summer for those related to salmonellosis. Incidence increased inversely with age: 3606/100,000 infants1-year-old, 257/100,000 4-year-old children. Complications (especially dehydration) were observed in 21% of viral gastroenteritis and 17% of bacterial gastroenteritis. At least, 14 deaths were found in both hospital discharge and mortality data. The mean duration of stay (3.2 days) was significantly higher in infants1-year-old, viral etiology, association with complications or bronchiolitis. The costs of hospitalization could be estimated to 62 million Euros.Our results are similar to those obtained in other developed countries. Despite variations in encoding the discharge reports, data has proven to be effective to describe national trends for this health event. Our study indicates that the public health burden and economic impact of prevention and control measures can be monitored through hospital discharge surveillance.

Four cases of Crohn disease (CD) were diagnosed between 1990 and 1997 in children living in the same area in the Indre-et-Loire district (county A). The local population raised the hypothesis that an environmental source could be responsible for these cases. An investigation was carried out to assess the excess of cases and to identify their possible determinants.A case was defined as any new case of CD (European definition) that occurred between 1989 and 1998 in county A or in the adjacent county of the Vienne district. Case finding was done by contacting all hospital services, pediatricians and gastro-enterologists in the 2 districts. A Standardized Incidence Rate (SIR) was calculated for sex and age in adults and children using data from the Inflammatory Bowel Registry of northern France. Statistical significance was assessed by a test taking into account small samples. A descriptive study was carried out among pediatric cases.Four pediatric cases and four adults were identified, all from county A. The SIR in adults was 0,45 (95% Confidence Interval [95% CI: 0.12-1.15). In children, the global SIR was 8,51 (95% CI: 2.29-21.79) and 19,05 (95% CI: 5.12-48.70) in county A. The descriptive study did not identify any exposure leading to a possible hypothesis concerning the origin of the cases.This study has shown that the incidence of CD among children of the area was greater than observed in France and has permitted to establish a close relationship with the affected families, to implement a social approach to the problem and to limit rumors. It illustrates the interest of a systematic stepwise approach, which takes into consideration the anxiety of the local community. Cluster investigation should be integrated as part of the public health agencies activities. However, in most cases, despite an excess risk, results do not allow to conclude in terms of etiology.

The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children.The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice.The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%).Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

The number of children of foreign origin adopted in France has increased in the past 15 years. The aim of this study was to analyse distinctive features and medical problems associated with international adoption.The files of 68 foreign-origin adopted children who attended or were admitted to the Medical and Nutrition Unit of the Pediatric Hospital in Tours between January 1st 1986 and December 31st 1997, were studied retrospectively. Various parameters were analysed: age at first consultation, age at adoption, country of origin and health problems, especially nutritional status, infectious diseases, growth and development.In the majority of cases, children were adopted before 12 months of age (61.2%), particularly before six months of age (49.3%). The children came mainly from Africa and countries in the Indian Ocean (48.5%), and from Southeastern Asia (33.9%). Malnutrition was frequent in children from Africa. Twenty-one children (30.9%) presented with severe malnutrition characterized by weight less than the mean-2SD for height and required hospitalization. No children had congenital hypothyroidism, hyperphenylalaninemia, nor were HIV positive. Some patients had infectious diseases: 11 Hepatitis B, four congenital syphilis and six tuberculosis, with favorable outcomes after treatment. The other most frequent diseases were acute diarrhea, chronic diarrhea, intestinal parasites, and scabies, varying according to countries. Three girls adopted from southern Asia developed precocious puberty. Growth and psychomotor development were satisfactory overall, but abnormalities were observed in 15 children (22.1%), which is higher than in the general population.The expansion of international adoption with distinctive diseases proves the importance of a checkup as soon as possible after the arrival of these children in France. This checkup has to include nutritional and general evaluation and supplementary tests, especially for specific serology and vaccination status. Following this, it would be possible to propose a suitable follow-up to the adoptive parents.

Our aim was to collect a large number of cases to characterize clinical presentation, outcome, and prognosis of chronic intestinal pseusoobstruction in children. We conducted a retrospective multicenter study that included children treated for chronic intestinal pseusoobstruction defined as recurrent episodes of intestinal obstruction with no mechanical obstruction, excluding Hirschsprung's disease. In all, 105 children, 57 boys and 48 girls, were studied, including five familial forms. Prenatal diagnosis was made in 18 patients. Eighty patients were less than 12 months old at onset; the disease began at birth for 37 patients. The most frequent signs were abdominal distension, vomiting, and constipation. Megacystis was noted in myopathies (7 cases), neuropathies (10 cases) and unclassified forms (13 cases). For all but three cases (two patients with CMV infection, one with Munchhausen-by-proxy syndrome), the associated diseases and disorders could not account for chronic intestinal pseusoobstruction as a secondary disorder. At least one full-thickness biopsy from the digestive tract was studied for 99 patients. The diagnosis recorded was visceral neuropathy in 58 cases, visceral myopathy in 17 cases, and uncertain or normal biopsy results in 24 cases. Seventy-eight children were fed intravenously, and only 18 were able to be fed orally throughout their illness. Seventy-one patients underwent surgery during their illness, and 217 surgical procedures, a mean of 3 per patient, were performed. Ostomy was the most performed procedure. Follow-up continued in 89 patients for 3 months to 16 years (mean 85 months). Forty-two patients were still fed by parenteral (39 patients) or enteral nutrition (3 patients) at the time of the study. Eleven patients died between the age of 1 month and 14 years 7 months.

Based on results of epidemiological studies, dorsal or lateral sleeping positions are now recommanded in the prevention of sudden infant death syndrome (SIDS). This raises an ethical question about the attitude towards the ventral positioning therapy for gastroesophageal reflux (GOR). The consensus conference considers that the ventral position should only be recommanded in GOR when the benefit appears to outweigh the risk of SIDS that it induces. The conference proposes that for infants with simple uncomplicated reflux, sleeping in the prone position should not be introduced in the first line treatment. Prone positioning should be restricted to complicated cases resistant to dietary and medical measures.

Published studies on the serum immunoglobulin concentrations of patients with protein-energy malnutrition (PEM) have been contradictory. This report describes such a study in 21 Senegalese children.Twenty one Senegalese infants (mean age: 19 +/- 2 months) with severe PEM were included in the study. Their weight was less than 32% of the normal range-for-height and all had sparse, thin hair and dyspigmentation of the skin. They were all suffering from hypoproteinemia (less than 70% of normal) and hypoalbuminemia (less that 61% of normal). The presence or absence of edema, loss of subcutaneous fat and mental changes were used to classify them into three groups. 1) kwashiorkor: eight infants; 2) marasmus: eight infants; 3) kwashiorkor plus marasmus: five infants. The control group comprised 27 infants living in the same area and having the same dietary habits as the 21 sick infants. The 21 infants with malnutrition were refed for 3 weeks with a diet supplying 100-150 Kcal/kg/d and 5-8 g/kg/d protein. The plasma concentration of proteins, prealbumin and immunoglobulins was measured on days 0, 8, 15 and 21.The only significant change was in the IgG concentrations of group 1, which increased to normal levels by day 15 as did the total protein and prealbumin.Severe PEM can lead to a loss of one class of immunoglobulins, but this can be restored by refeeding.

The determination of fecal fat gives a reliable index for studying fat intestinal absorption in children, but requires the collection of whole day stools for 3 consecutive days. To avoid stool collection constraint, the authors implemented a 3-point short-duration fatty meal test with determination of subsequent increase in serum levels of triglycerides and chylomicrons which then were compared to fasting values. Normal values were determined among control healthy children. Five patients with diagnosed malabsorption syndromes showed markedly impaired results. This fatty meal test seemed simple, easy to perform during a full-day admission. Further studies are being implemented to confirm its good diagnostic value.

The aim of this work was to study gastrin secretion in children receiving constant rate enteral nutrition (CREN) then avoiding intermittent stimulation induced by meals. Induced hypergastrinemia was performed in 12 children during CREN and compared with that in 8 children with intermittent oral feeding as a control group. Before stimulation by protein load there was no significant difference between the 2 groups; 20 minutes after stimulation, there was no change in the serum gastrin concentration in the CREN group, but a dramatic increase in the control group. The hypothetic role of gastrin and/or intestinal factors is advanced to explain the inhibition of gastrin secretory response during CREN. A progressive substitution from continuous to discontinuous intakes is suggested to avoid weaning complications of this nutritional technique.

A case of gastroschisis and double small bowel atresia is reported. Primary surgical treatment consisted in jejunostomy located at 28 cm from the ligament of Treits, reinstatement of excluded bowel loops encased in a thick matrix of fibrinous material, and abdominal wall closure. Seven weeks later, the lower part of small bowel was anastomosed to the medium part. Because of uneven bowel caliber, an ileostomy was associated to parenteral nutrition using permanent instillation of secretions recovered from ileostomy was associated to parenteral nutrition. At 4 1/2 month, small bowel continuity was restored with jejunal modeling. Authors stress the necessity to preserve as far as possible, intestinal segments in such a case and emphasize the advantage of the digestive instillation method in order to recover the function excluded intestinal segments.

The pathogenic role of Cryptosporidium in diarrhea is well known in animals and now admitted in humans. Organism is common both to animals and humans. Diarrhea is particularly severe in immunocompromised patients. In order to determine occurrence of cryptosporidiosis in the pediatric population and therefore the contamination risk of the immunocompromised patients in the hospital, stool examinations were carried out in a prospective way in 190 hospitalized children with diarrhea on a 12 month-period. Cryptosporidium was detected 5 times in 4 children, among 57 positive stool examinations. No chronic carrier was found. In all the cases recovery was observed within one month. No child was immunodeficient. No outbreak was observed. The results confirm that immunologically competent children can be infected by cryptosporidium and have diarrhea, recovery and clearing of the stools always occurring spontaneously.

A study of specific and non-specific immune functions was performed in 14 children presenting with severe malnutrition, before and after parenteral hyperalimentation by central catheter. Anomalies of cellular functions (reduction of the percentage of E rosettes and deficient proliferation with mitogens) were rarely found. Measurements for serum immunoglobulins did not show any anomaly; however reduced percentages of EAC rosettes and important increase in "null" cells were found in about one third of the cases. The main finding was a decreased serum chemotactic activity following activation of the classic complement pathway. This was found in 12 children and returned to normal values in all cases after hyperalimentation.

This is a case of local mercury absorption caused by accidental rectal perforation during monitoring of temperature. This complication is only reported in cases of subcutaneous injury by a broken thermometer. Treatment necessitates complete excision of mercury deposits. When mercury remains, a clinical and biochemical follow-up is necessary but indication for chelation therapy is exceptional.

While studying retrospectively 44 cases in infants less than 3 months with urinary tract infection, clinical, bacteriological and radiological aspects have been analyzed. Clinical symptomatology were chiefly fever and digestive symptoms (anorexia, vomiting) associated with poor weight gain. Among the causative bacteria, E. coli was the most frequent (88%) with ampicillin resistance in 26% of them. Diagnosis difficulties associated with urine collection with a bag, frequently contaminated, have to be emphasized. It is therefore necessary, except in case of emergency to repeat urine collection before treatment. Among 35 infants investigated radiologically, the urinary tract was abnormal in 46% (48% boys and 40% girls). The localization of the abnormality was upper in 16% and lower (reflux) in 43%. Ampicillin alone or associated with an aminoglycoside was the most common treatment (33 cases). Urine sterilization has always been obtained.

The records of 850 children hospitalized during a 10 years period (1965--1975) in the surgical pediatric unit shows: --A greater frequency of male over female children in all age groups of the study (64.4 p. 100). --A predominance of the 1--3 year age group over the other age group (46.3 p. 100). --A greater frequency of male over female children in all age groups of the scaldings were predominant (55.9. 100), flameburns (11.7 p. 100). Most burn accidents occurred at meal-time and during week-end and holidays. According to the burned area was as follows: 5 p. 100 = 214 cases; 5 a 10 p. 100 = 340 cases; 10 a 25 p. 100 = 142 cases; exceeding 15 p. 100 = 102 cases. 283 children had suffered some complications. Infection was most prevalent. The frequency of gastro-intestinal was lessened by continuous feeding and systematic sulpiride prescription (12 gastro-intestinal hemorragie). Of the 26 fatalities (2.7 p. 100 of hospitalized children) infection was listed as the cause of death for 14 cases. For 10 of them no cause was definitevely elicited. All (26 children) were burned over 25 p. 100, 15 area exceeding 40 p. 100. Mean of hospitalisation times was 30.8 days (63.6 days for burns exceeding 25 p. 100 area). Result in 392 children followed up burns shows high disability: 11.2 p. 100 functional disabilities and 27.7 p. 100 esthetic disabilities which are being treated by plastic surgery.