Autoimmune enteropathy in infants. Pathological study of the disease in two familial cases.

In two brothers with autoimmune enteropathy there was total villous atrophy in the small intestine and marked lymphoid cell infiltration in the lamina propria of the entire digestive tract, discovered at autopsy in one of these patients. In addition, the pancreas showed diffuse interstitial infiltration by lymphocytes. The liver was enlarged, with extensive haematopoiesis and cholestasis. Similar lesions in the digestive tract were noticed in the second boy, but on immunosuppressive therapy his diarrhoea gradually disappeared. When he was 16 months of age, percutaneous biopsies showed moderately aggressive chronic hepatitis and a focal interstitial lymphoid infiltrate in the kidney. After 3 years of immunosuppressive therapy (prednisone, cyclosporin), the child ate well and total parenteral nutrition was discontinued. The intestinal lesions had regressed but fibrotic lesions of the liver persisted.

[Practical advice for women who want to breast feed]. / Conseils pratiques aux mères qui souhaitent allaiter.

Breastfeeding is currently a rare practice in France. Pediatricians wanting to help those women who wish to breast feed should be able to provide them with proper information during the perinatal period, and to ensure that breast feeding begins under the best conditions, i.e., early initiation of breast feeding, then self-demand feeding, breast feeding without restrictions on duration and frequency, no supplementation of any kind, continuous rooming-in, and proper positioning of the baby. Most of the time this is sufficient to prevent complications such as engorgement, sore nipples, mastitis or poor weight gain of the baby. If difficulties appear, they have to be managed by means of simple advice and reassurance, without interrupting breast feeding.

[Percutaneous endoscopic gastrostomy in pediatric practice]. / Gastrostomie percutanée par voie endoscopique en pratique pédiatrique.

Percutaneous endoscopic gastrostomy (PEG) has become a good alternative to nasogastric tube feeding and surgical gastrostomy. The procedure requires two practitioners, one of them being an endoscopist. The technique can be performed either under local or general anesthesia, at bedside or in an operating room or endoscopic room, using a one step button or first setting of a catheter and secondly a button, by pull technique in which the button is pulled through esophagus or push technique were the button is pushed through the parietal wall. Its is used to deliver enteral nutriments in patients who need tube feeding. In paediatrics practice, morbidity rate related to PEG is less than 1% and morbidity less than 10%. PEG appears as a simple, safe, practical, esthetic and cheap procedure.

[Hypersensitivity to 5-aminosalicylic acid. Value of desensitization by oral route]. / Hypersensibilité à l'acide 5-aminosalicylique. Intérêt de la désensibilisation par voie orale.

BACKGROUND: Treatment with sulphasalazine of patients with mild and moderate forms of Crohn's disease may result in side effects in some of them. CASE REPORT: An 11-year-old girl with Crohn's disease was given 40 mg/kd/day of sulphasalazine after achieving remission with prednisone. She developed urticaria and eosionophilia 8 days later, then extended skin edema during a second course of sulphasalazine requiring methyl prednisolone therapy. Mesalazine administration (25 mg/kg/day), one month later, resulted to watery stools, vomiting, and fever, a side effect observed again after two further mesalazine challenges of one-month interval. Eosionophilia was present and the lymphocyte stimulation test with mesalazine was positive. Successful desensitization to sulphasalazine could be obtained 9 months later permitting further safe administration of this drug up to 18 months. CONCLUSION: Hypersensitivity to sulphasalazine may be successfully overcame by oral desensitization, especially in those patients with low-grade activity of Crohn's disease.

[Home parenteral nutrition in children: practical modalities]. / Nutrition parentérale à domicile chez l'enfant: modalités pratiques.

Today, the duration of parenteral nutrition (PN) is unlimited. PN is used in digestive tract chronic disease (the digestive tract is either unusable or is at rest) or in oncology, hematology and renutrition before transplantation. Thanks to technical advances, PN, although sophisticated, may be applied at home if an active involvement of one parent is obtained. Home PN is indicated when it is planned for more than 3 months. The indications as a function of the disease, socio-cultural background and the distance to the PN centre are reviewed. The technical modalities such as vascular access, the choice of a catheter, the nutriments to be perfused, the parents' training and the logistic support are studied. Complications of home PN are identical to those of prolonged PN; infections is the most frequent. Results of PN as well as the quality of life of the children are briefly reported.

[Cow's milk protein allergy through human milk]. / Sensibilisation et allergie aux protéines du lait de vache chez l'enfant allaité

Cow's milk protein allergy (CMPA) is the first allergy that affects infants. In this population, the incidence rate reaches 7.5%. The multiplicity and aspecificity of the symptoms makes its diagnosis sometimes complicated, especially in the delayed type (gastrointestinal, dermatological, and cutaneous). CMPA symptoms can develop in exclusively breastfed infants with an incidence rate of 0.5%. It, therefore, raises questions about sensitization to cow's milk proteins through breast milk. Transfer of native bovine proteins such as ß-lactoglobulin into the breast milk is controversial: some authors have found bovine proteins in human milk but others point to cross-reactivity between human milk proteins and cow's milk proteins. However, it seems that a small percentage of dietary proteins can resist digestion and become potentially allergenic. Moreover, some authors suspect the transfer of some of these dietary proteins from the maternal bloodstream to breast milk, but the mechanisms governing sensitization are still being studied. Theoretically, CMPA diagnosis is based on clinical observations, prick-test or patch-test results, and cow's milk-specific IgE antibody concentration. A positive food challenge test usually confirms the diagnosis. No laboratory test is available to make a certain diagnosis, but the detection of eosinophil cationic protein (ECP) in the mother's milk, for example, seems to be advantageous since it is linked to CMA. Excluding cow's milk from the mother's diet is the only cure when she still wants to breastfeed. Usually, cow's milk proteins are reintroduced after 6 months of exclusion. Indeed, the prognosis for infants is very good: 80% acquire a tolerance before the age of 3 or 4 years. Mothers should not avoid dairy products during pregnancy and breastfeeding as preventive measures against allergy.

Prevalence of liver complications in children receiving long-term parenteral nutrition.

BACKGROUND/OBJECTIVES: The hepatic prognosis of long-term home total parenteral nutrition (TPN)-dependent children is poorly documented. The objective was to study outcome data in home TPN-dependent children and to describe precisely their liver biopsies in the attempt to analyze risk factors for biochemical and histological hepatic abnormalities. SUBJECTS/METHODS: Medical records of 42 children receiving home TPN for more than 2 years between January 1998 and December 2007 in a single approved home total parenteral center were reviewed. Hepatic biochemical abnormalities were analyzed. Hepatic biopsies were classified by two independent pathologists. RESULTS: Duration of TPN was 7.9±0.8 years (mean±s.e.m.), with an average age at onset of 1.5±0.5 years. A total of 24 patients (57%) developed biochemical liver abnormalities in an average of 2.9±0.4 years after starting TPN. Risk factors for biochemical abnormalities were younger age at TPN commencement, longer duration of TPN, higher rate of catheter-related infections and higher volume and energy content of TPN. Liver biopsies were carried out in 43% of patients (mean age 3.2±0.9 years). Almost all patients had fibrosis (94%). Risk factors were dependent on each histological abnormality: fibrosis was significantly associated with a shorter length of bowel and a longer duration of TPN; cholestasis correlated with a lower percentage of total parenteral energy intake due to lipids; and steatosis had no risk factor identified. CONCLUSION: Our study reports a high rate of histological liver abnormalities and analyzes risk factors in children who underwent very long-term home TPN.

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]. / Déficit en anhydrase carbonique II: ostéopétrose, acidose rénale tubulaire et calcifications intrâcraniennes. Revue de la littérature à partir de trois observations.

Three children in two unrelated families are affected by carbonic anhydrase II (CA II) deficiency. This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal recessive inheritance. All the patients have a very high CA I/CA II ratio (greater than 10(4) versus 6 to 10 in controls) and carrier detection is possible in obligate heterozygotes (CA I/CA II = 12 to 17). The clinical presentation consists in renal tubular acidosis, osteopetrosis and cerebral calcifications. The long term follow-up of these patients shows that the prognosis is mainly of neurological and mental expression.

[Zona in a 6-month-old infant. Apropos of one case]. / Zona chez un nourrisson de 6 mois. A propos d'un cas.

The authors report an unusual case of zona in a 6-month-old infant whose mother was affected by varicella on the fourth month of pregnancy. The course and outcome were benign.

Benign recurrent cholestasis with normal gamma-glutamyl-transpeptidase activity.

We report two observations of intrahepatic cholestasis with normal serum levels of gamma-glutamyl-transpeptidase. These cases fit the diagnostic criteria of benign recurrent cholestasis and show that it, like Byler disease, is another form of pediatric intrahepatic cholestasis with a normal gamma-glutamyl-transpeptidase level in the infant.

[Epidemiological study and cost evaluation of measles in Lyons hospitals over a 5-year period]. / Etude épidémiologique et évaluation du coût de la rougeole dans les hôpitaux lyonnais durant cinq années.

The study of 414 measles cases, admitted in several childrens' hospitals in the Lyons area, underlines the important cost of this disease. Moreover, the occurrence of complications (in 56% of children hospitalized with measles), some of which as severe as encephalitis (n = 9) and/or death (n = 4), shows that an improvement of preventive measures is indispensable. Vaccination appears to be the most effective way, but the actual immunization level remains insufficient in France. This situation could be optimized either by intensifying the sensibilization fields or by rendering vaccination compulsory before entrance to school and collectivities.

[Benign recurrent cholestasis. Apropos of a case with normal serum gamma-glutamyl transpeptidase level]. / Cholostase récurrente bénigne. A propos d'une observation avec taux sérique de gamma-glutamyl transpeptidase normal.

We report a case of intrahepatic cholestatis with normal serum levels of gamma GT who was similar to the benign recurrent cholestasis (BRC). The diagnosis of cholestasis in infants may be difficult and the distinction between BRC and Byler's disease should be made as early as possible.

[Ecchymotic cellulitis in infants: consider Haemophilus influenzae]. / Cellulites ecchymotiques du nourrisson: penser à l'Hemophilus influenzae.

Three cases of ecchymotic cellulitis in 7 to 11 month old infants are reported. Haemophilus influenzae was isolated from blood in two cases. Ecchymotic cellulitis in infants should, in the first place, evoke an Haemophilus influenzae infection. Bacteremia being frequent in this condition, blood cultures should be performed.

Familial autoimmune enteropathy with circulating anti-bullous pemphigoid antibodies and chronic autoimmune hepatitis.

In a family of four children (two boys and two girls), the two brothers had severe, protracted watery diarrhea beginning at 2 and 3 weeks of life, respectively. Duodenal mucosa in both patients showed total villous atrophy and severe inflammatory infiltration of the entire bowel. The first patient also had lymphoid cell infiltration of the pancreas and died at 6 weeks of age. The second boy is alive at 2 years of age and is immunocompetent, but still receives total parenteral nutrition. Indirect immunofluorescence studies revealed circulating antibodies to enterocytes, smooth muscle, thyroid, and islet cells. Bullous pemphigoid antibodies (230 and 180 kd), specific for hemidesmosomal proteins and usually associated with a subepidermal blistering skin disease, were detected by direct and indirect immunofluorescence studies and by Western immunoblot. A diagnosis of autoimmune hepatitis was made, based on evidence of chronic active hepatitis and circulating anti-smooth muscle antibody. Immunosuppressive treatments induced partial clinical remission of the diarrhea but no resolution of the small bowel injury. At 16 months of age, remission of the diarrhea occurred, but persistent autoimmune hepatitis led us to maintain treatment with prednisone and azathioprine, and later with cyclosporine. In this child, as in other patients with autoimmune disease, the link between autoantibodies and organ damage remains uncertain but immunosuppressive treatment is indicated.

[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. / Déficit congénital en facteur intrinsèque. A propos de 3 cas dans une fratrie.

Three familial cases of congenital intrinsic factor deficiency are reported: the stress is put on the interest of gastric investigations and especially of the quantity of intrinsic factor in the gastric juice when investigating megaloblastic anemia due to vitamin B12 deficiency. The study of the level of intrinsic factor in the gastric juice is proposed as a test for identifying carriers.

[Transient dilatation of the intra- and extra-hepatic bile ducts. A new aspect of bile duct involvement in scarlet fever]. / Dilatation transitoire des voies biliaires extra et intra-hépatiques. Nouvel aspect de l'atteinte des voies biliaires dans la scarlatine.

An extra- and intra-hepatic bile duct dilatation has been observed in a child in the course of scarlet fever. Manifestations of cholestasis, cytolysis and inflammation were present. Pruritus disappeared within 2 months, biological abnormalities within 3 months and ultrasonic bile duct abnormalities between 3 and 6 months, with a follow-up of 9 months. This case report suggests a relationship between a transitory obstruction, possibly toxic in origin, of the bile ducts and the scarlet fever.

[Gastroduodenojejunitis disclosing Crohn disease in a child]. / Gastroduodénojéjunite révélatrice d'une maladie de Crohn chez un enfant.

In a 12-year-old girl, a duodenojejunitis associated with systemic manifestations led to the diagnosis of Crohn's disease. Continuous enteral alimentation and steroid-therapy has induced remissions of the acute disease.

[Recurrent infections caused by Salmonella typhimurium]. / Infections récidivantes à Salmonella typhi murium.

We report the case of a 27 month-old girl with recurrent Salmonella typhi murium infections. The study of the neutrophil cells showed a transitory selective deficiency of the chemiluminescent response. After 5 months of pefloxacine therapy, recovery was obtained.

Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.

BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. METHODS: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut.