[Steiner-type neuroapudomatosis presented a pseudo-Hirschsprung disease (author's transl)]. / Neuroapudomatose de type Steiner révélée par une pseudo-maladie de Hirschsprung.

A case of Steiner type neuroapudomatosis presented with a pseudo-Hirschsprung disease in an infant. Secondarily, the facies became typical, while hyperthyrocalcitoninaemia led to the discovery at the age of 2 years and 8 months of a medullary carcinoma of the thyroid. Despite early surgery in the absence of any clinical signs, it was not possible to avoid cervical lymphatic spread.

[Changes in the biosynthesis, esterification and efflux of cholesterol in fibroblasts in culture from patients with Niemann-Pick disease type C]. / Altérations de la biosynthèse, de l'estérification et de l'efflux du cholestérol dans les fibroblastes en culture de sujets atteints de maladie de Niemann-Pick type C.

Cholesterol synthesis, esterification and efflux have been comparatively studied in control fibroblasts and in fibroblasts from patients with Niemann-Pick disease type C (NPC). Sterol synthesis was markedly increased in NPC cells as compared to controls, either in whole medium or in medium devoid of lipoproteins. 14C-oleic acid incorporation into cholesteryl-esters was 2 to 3 fold reduced in NPC cells, and esterification of 14C-exogenous cholesterol was dramatically (15-30 fold) decreased. ACAT activity, measured in vitro, was not significantly altered in NPC cells. Finally, cholesterol efflux appeared to be decreased in NPC fibroblasts as compared to controls. The hypothesis of a defect in exogenous cholesterol access to intracellular regulatory pools is proposed.

Prolonged constant rate elemental enteral nutrition in Crohn's disease.

Constant rate enteral nutrition (CREN) has been used in 17 pediatric patients with Crohn's disease. Exclusive CREN was maintained from 2 to 7 months and progressively reduced to assure fractioned oral intakes from 12 to 22 months. From this preliminary study, CREN appeared to be as effective as steroid therapy in initiating remission of active Crohn's disease and was able to suppress steroid dependence. In some cases with prolonged CREN, reduction or disappearance of stenotic lesions of the bowel was observed. Two other positive points must be emphasized: the favorable psychological impact of the method and the ability to avoid growth suppression secondary to steroids. The long-term effects and longer remissions must be confirmed by a multicenter study in a larger group of patients.

Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C.

Cholesterol synthesis, esterification and efflux were investigated in cultured fibroblasts from patients with Niemann-Pick disease type C. Sterol synthesis from sodium acetate was markedly increased in the two Niemann-Pick disease type C strains as compared to controls, either in the presence or absence of exogenous cholesterol supply by low-density lipoproteins. By contrast, cholesterol esterification was about 2-3-fold reduced when measured by oleic acid incorporation into cholesteryl esters and 10-15-fold reduced when measured with labelled free cholesterol as precursor, although acylcoenzyme-A:cholesterol acyltransferase activity was normal when studied in vitro on cell homogenates. Chase experiments with 14C-cholesterol demonstrated that the rate of cholesterol efflux was decreased by about 3-4-fold in fibroblasts from patients with Niemann-Pick disease type C. These results provide further evidence for alterations of sterol metabolism in Niemann-Pick disease type C and support the hypothesis of a trapping of exogenous cholesterol, which cannot enter the regulatory intracellular pools.

[External fistulas of the small intestines in the newborn infant and child. Medical aspects and digestive resuscitation (19 cases)]. / Fistules externes du grêle chez le nourrisson et l'enfant. Aspects médicaux et de réanimation digestive (19 cas)

The prognosis in fistulae of the small intestine in the infant and child is totally different according to whether they develop following a simple operation involving the healthy small intestine or multiple or complicated operations on pathological bowel. Under these latter conditions, constant medico-surgical cooperation, modern techniques of renutrition (total parenteral renutrition or constant flow enteral nutrition), together with restoration of water/electrolyte balance and the treatment of infections give increasingly satisfactory results. In a series of 19 children, with 26 enterocutaneous fistulas, deaths were reduced to 4. Independently of recourse to surgery determined by local abdominal conditions (peritonitis, obstruction) or persistence of the fistula, the choice between total parenteral renutrition and constant flow enteral nutrition (C.F.E.N.) depend essentially upon the site of the fistula. When the latter is proximal the digestive tract may not be used, while C.F.E.N. may be employed when it is distal, sometimes resulting in cure without further surgery.

[The treatment of Crohn's disease in the child. 12 cases (author's transl)]. / Traitement de la maladie de Crohn de l'enfant. 12 cas.

Therapeutic aspects of Crohn's disease in pediatrics are discussed. New renutrition techniques are pointed out: total parenteral nutrition in 4 cases, and constant rate enteral nutrition in 6 cases (with elemental diet). In association with anti-anflammatory and anti-bacterial drugs results seemed very remarkable: in all cases, dramatic clinical recovery, and even radiologic improvement. In two cases surgery appeared to be defered after more than one year of evolution.

[Digestive intolerance to cow's milk proteins in infants. Clinical study of 42 cases]. / L'intolerance digestive aux proteines du lait de vache chez le nourrisson. Etude clinique de 42 cas

The criteria chosen for the diagnosis of gastro-intestinal intolerance to cow milk proteins were the following: occurrence of shock or anaphylaxis, reccurrence of gastro-intestinal symptoms as a consequence of repeated trials of reintroduction of cow milk proteins into the diet. Under these conditions the transient forms, including the secondary forms, of intolerance to cow milk, were eliminated. This diagnostic attitude may explain the early appearance of gastro-intestinal disturbances, the higher frequency in infancy than in childhood of the severe forms, characterized by shock, subacute malabsorption, exsudative enteropathy, bloody diarrhea, the authors are describing in their study report.

[Digestive intolerance to cow's milk proteins in infants. Biological and histological study]. / L'intolerance digestive aux proteines du lait de vache chez le nourrisson et l'enfant. Etude biologique et histologique

Biological and histological studies were performed in 42 cases of gastro-intestinal intolerance to cow's milk proteins. Hypoproteinemia was present in 2/3 of the cases, anemia in 3/4. Malabsorption syndrome (steatorrhea, xylose) was overt in less than 1 patient out of 2. Serum level of vitamin A was more frequently depressed than that of vitamin E and folinic acid. Intestinal biopsy, performed in 32 children, showed consistent abnormalities, a partial atrophy of the villi being most often seen (26 cases). Eosinophilia was present in 50% of the cases. A titer of anti-milk agglutinins of 1/64 or above was always found if the test was performed repeatedly when the diet of the children contained milk. Lymphocyte proliferation in culture, induced by milk proteins, was positive in 70% of the cases. None the less, no biological or histological findings were found to be specific for gastro-intestinal intolerance to milk proteins.

Sclerosing cholangitis with neonatal onset.

Sclerosing cholangitis is characterized by irregular narrowing of extrahepatic or intrahepatic bile ducts, and in adults is defined mainly by radiologic findings. We describe eight children with cholestasis from the first week of life, followed by early cirrhosis and portal hypertension. Histologic examination of the liver showed absence of interlobular bile ducts in the early cholestatic phase in two patients and biliary cirrhosis later in all patients. Radiologic examination by percutaneous cholecystography under ultrasound guidance, carried out at age 8 months to 9 years, disclosed abnormal intrahepatic bile ducts with rarefaction of segmental branches, stenosis, and focal dilation. The extrahepatic ducts were involved in six patients. No intestinal disease has been found in these patients.

[Pseudo-Hirschsprung's disease (author's transl)]. / Démembrement du cadre "pseudo-Hirschsprung". A propos de 8 observations pédiatriques.

Eight children with pseudo-Hirschsprung's disease are reported. They can be divided into three groups: alimentary ganglioneuromatosis, schwann cell hyperplasia and those with normal appearance by stantard histology. In view of the heterogeneity, histology cannot predict the extent or the prognosis of the disease. Several biopsies at various levels of the alimentary tract and the use of advanced techniques are necessary to assess fully the extent and the type of the lesion and whether it is congenital or acquired. The majority of pseudo-Hirschsprung's disease tend to affect most of alimentary tract, which may lead to the formation of stagnant loops with all their risks. Treatment includes ileostomy, continuous hypoallergenic oral feeding, and manual expression several times a day.