Unusual association of myasthenia gravis and ulcerative colitis in a 14-year-old boy.

Ulcerative colitis (UC) is a chronic inflammatory condition. Its incidence is 0.8 per 100,000 children per year and median age at diagnosis is 14.1 years in the pediatric population. Extradigestive manifestations are frequent in inflammatory bowel disease (IBD), but neurologic disorders are rarely associated. We report the case of a 14-year-old boy who was diagnosed with UC and thereafter autoimmune hepatitis with primary sclerosing cholangitis. Two months later, he also developed myasthenia gravis, another autoimmune disease. Physicians should be aware of the possibility of an association between several autoimmune diseases in patients with IBD in order to improve disease outcomes.

[Hepatic alveolar echinococcosis: a rare cause of recurrent, surgically curable abdominal pain in children]. / L'échinococcose alvéolaire hépatique : une cause exceptionnelle de douleurs abdominales récurrentes, chirurgicalement curable, chez l'enfant.

Hepatic alveolar echinococcosis is a rare parasitic zoonosis, potentially lethal in childhood. It is due to Echinococcosis multilocularis whose larva insidiously develops in the liver. We report the case of a 13-year-old girl, living in the Vosges Mountains, followed for recurrent abdominal pain, with recent worsening. Diagnosis of alveolar echinococcosis was immediately suspected based on the liver ultrasound scan and then confirmed by imaging (CT scan, NMR) and serology. A curative surgical treatment (segmentectomy) was performed 3 months after diagnosis, under oral albendazole treatment, maintained for at least 2 years. Hepatic alveolar echinococcosis usually has a negative prognosis, except if diagnosed early, which allows rapid surgical treatment, as in our patient.

[Current indications of ileocolonoscopy in children in 2012]. / Mise au point : évolution des indications de la coloscopie chez l'enfant en 2012.

Indications for ileocolonoscopy were defined in 2002 by the Groupe Francophone d'Hépatologie Gastroentérologie et Nutrition. These recommendations were updated with new data and technical innovations appearing over the last decade. Ileocolonoscopy is primarily indicated for digestive bleeding or anemia and for suspected inflammatory bowel disease. It is now indicated in inflammatory bowel disease for control of mucosal healing after medical treatment and relapse after surgical resection. Iterative ileocolonoscopy is primarily indicated for genetic polyposis and well defined for familial adenomatous polyposis. The contraindications were not modified.

Prevention of relapse by mesalazine (Pentasa) in pediatric Crohn's disease: a multicenter, double-blind, randomized, placebo-controlled trial.

AIM: This study aimed to test the efficacy of mesalazine in maintaining remission in pediatric Crohn's disease (CD) following successful flare-up treatment. METHODS: In this double-blind, randomized, placebo-controlled trial, 122 patients received either mesalazine 50mg/kg per day (n=60) or placebo (n=62) for one year. Treatment allocation was stratified according to flare-up treatment (nutrition or medication alone). Recruitment was carried out over two periods, as the first period's results showed a trend favoring mesalazine. Relapse was defined as a Harvey-Bradshaw score more than or equal to 5. Time to relapse was analyzed using the Cox model. RESULTS: The one-year relapse rate was 57% (n=29) and 63% (n=35) in the mesalazine and placebo groups, respectively. We demonstrated a twofold lower relapse risk (P<0.02) in patients taking mesalazine in the medication stratum (first recruitment period), and a twofold higher risk in patients taking mesalazine in the nutrition stratum (second recruitment period), compared with the other groups. None of the children's characteristics, which differed across the two recruitment periods, accounted for the between-period variation in mesalazine efficacy. One serious adverse event was reported in each treatment group. CONCLUSION: Overall, mesalazine does not appear to be an effective maintenance treatment in pediatric CD.

Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study.

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.

Extrahepatic biliary atresia with laterality sequence anomalies.

The patient was the first child of first cousin parents. He was born at term after an uneventful pregnancy with normal height, weight and head circumference. Jaundice appeared at 15 days of age. Ventricular septal defects and valvular pulmonary stenosis were diagnosed. An hepatic workup revealed extrahepatic biliary atresia and abdominal situs inversus. Hepatic biopsy showed cirrhosis with intrahepatic cholestasis. Genetic factors are suggested in extrahepatic biliary atresia. Analysis of segregation patterns suggested the existence of two major groups, one with various combinations of anomalies within the laterality sequence and the other with one or two anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. This patient belongs to the first group.

[Gastrointestinal hemorrhages in children]. / Hémorragies digestives de l'enfant.

Gastrointestinal bleeding is not rare in paediatric practice. Always impressive to the surrounding family, they reveal an underlying affection (portal cavernous haemangioma, ulcer) or complicate a progressing disease (oesophagitis, varix). Gastrointestinal endoscopy should be made rapidly in a paediatric setting. The main causes are: before 2 years of age and over 7 years, peptic oesophagitis; from 2 to 7 years, acute lesions of the gastroduodenal mucous membrane and ulcers. Lower tract bleeding (melaena or rectal bleeding) is mainly due to anal fissures, polyps, severe inflammatory colitis and enterocolitis.

[Antigliadin, antireticulin, antiendomysium antibodies: value in the diagnosis and follow-up of celiac disease in children]. / Anticorps antigladine, antiréticuline et antiendomysium: intérêt dans le diagnostic et le suivi de la maladie coeliaque chez l'enfant.

In recent years, the clinical spectrum of coeliac disease has changed and forms with mild aspecific symptoms are today frequent. Therefore many infants are submitted to jejunal biopsy in order to exclude coeliac disease or to allow an early diagnosis. This has led to a search for a simple and reliable diagnostic test of coeliac disease in order to limit the use of jejunal biopsy. Recent data suggest that the study of serum antigliadin, antireticulin and antiendomysium antibodies may possibly play the role. In this paper the working group on coeliac disease of the Groupe Francophone de Gastroentérologie et Nutrition Pédiatriques expresses its view on the place of the dosages of these antibodies in the diagnosis and follow up procedures of coeliac disease in infants and children. At the present time, although it allows a simplification of the procedures, these dosages are presently not sufficiently reliable to serve as a substitute of jejunal biopsy.

[Multicenter study of sodium alginate in the treatment of regurgitation in infants]. / Etude clinique multicentrique de l'alginate de sodium dans le traitement des régurgitations du nourrisson.

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.

[Intestinal ganglioneuromatosis: histochemical, histoenzymological and ultrastructural study of a case]. / La ganglioneuromatose intestinale: étude histochimique, histo-enzymologique et ultrastructurale d'une observation.

Report of a child with disseminated ganglioneuromatosis of the gut. The complexity of the intestinal nervous system malformation is proved by histochemical, histoenzymological and ultrastructural studies. The malformation is characterized by: hyperplasia and hypertrophy of enteric plexus and nerves bundles in the meso, high acetylcholinesterase activity, aplasia of the sympathetic innervation with the exception of perivascular plexus, qualitative and likely quantitative integrity of the endocrine digestive system. These data are compared with similar observations in the literature.

[Central venous approach in pediatric cancerology]. / Abord veineux central en cancérologie pédiatrique.

Between 1-04-1980 and and 1-01-1982, 50 catheters have been inserted in children from 6 months to 16 years of age. The silicone right atrial catheter is implanted using surgical technique under local or general anesthesia in a cervical or brachial vein. The mean duration of catheter life was 6 weeks. Catheters have been inserted according to the exact nature of cancer, the intensity of the treatment and the preexistent malnutrition (acute Leukemia, malignant lymphoma, bone marrow transplant, ...). The mechanical complications and the infections risk were studied. These incidents must not contraindicate this technique because the setting up of a central venous line allows in a treated child: 1. To maintain a correct nutritional state. 2. To slow the functioning of the digestive tract. 3. To further the administration of the therapeutic and the hematologic supervision in good conditions of security and comfort.

Blood and urinary amino acids in children receiving total parenteral nutrition.

Plasma concentrations and urinary outputs of amino acids were estimated in nineteen patients receiving intravenous hyperalimentation to evaluate the adequacy of dosage and composition of the infusates for the maintenance of normal blood concentrations of essential amino acids. The use of high concentrations of branched chain amino acids seems to be appropriate for valine and isoleucine but not for leucine. The high concentration of cysteine in the infusates used induces a very high urinary excretion of cysteine and cystine and are ineffective to bring the decreased plasma cystine levels back to normal.