Total intestinal aganglionosis. An autosomal recessive condition?

A case of total intestinal aganglionosis in a sib of a previously recorded patient is presented. The number of cases now reported is 9 in six families. The possibility that this condition is a distinct entity inherited in an autosomal recessive manner is discussed.     

Total intestinal aganglionosis with involvement of the stomach

Total intestinal aganglionosis is the rarest form of Hirschsprung's disease, with absence of ganglia from the duodenum to the rectum. In addition to those cases reported in the literature, a neonate with total intestinal aganglionosis with involvement of the stomach is presented. Diagnosis of this extensive form of Hirschsprung's disease is a major problem. These patients lie beyond the scope of present surgical expertise, and the outcome is universally fatal.     

Transient intestinal lymphangiectasia.

Intestinal lymphangiectasia may be more protean in clinical manifestations and less rare than earlier suspected. A recent report points out that there are two types of the disorder, one congenital and the other acquired and transitory. A case is reported which fulfills the current clinical, laboratory, radiological and histological criteria for the diagnosis of the disease, and represents the first report in Scandinavia of transient intestinal lymphangiectasis with rapid and complete recovery within a few months after initiation of MCT diet.     

Congenital solitary intestinal fibromatosis.

Neonatal intestinal obstruction due to a tumour is rare. We report a six-day-old male neonate who presented with abdominal distension and vomiting. Laparotomy revealed colonic obstruction caused by a stenosing fibrotic lesion in the proximal transverse colon. Histopathological examination of the resected specimen confirmed fibromatosis. We believe this represents the third reported case of solitary colonic fibromatosis. The literature on neonatal intestinal fibromatosis is reviewed.     

Total parenteral nutrition and sepsis.

In 1279 very premature or very low birthweight infants the use and duration of treatment with total parenteral nutrition were associated with short gestational age and low birth weight. Infants treated with total parenteral nutrition had a higher risk of sepsis usually caused by Staphylococcus epidermidis or Staphylococcus aureus.     

Incomplete intestinal absorption of fructose.

Intestinal D-fructose absorption in 31 children was investigated using measurements of breath hydrogen. Twenty five children had no abdominal symptoms and six had functional bowel disorders. After ingestion of fructose (2 g/kg bodyweight), 22 children (71%) showed a breath hydrogen increase of more than 10 ppm over basal values, indicating incomplete absorption: the increase averaged 53 ppm, range 12 to 250 ppm. Four of these children experienced abdominal symptoms. Three of the six children with bowel disorders showed incomplete absorption. Seven children were tested again with an equal amount of glucose, and in three of them also of galactose, added to the fructose. The mean maximum breath hydrogen increases were 5 and 10 ppm, respectively, compared with 103 ppm after fructose alone. In one boy several tests were performed with various sugars; fructose was the only sugar incompletely absorbed, and the effect of glucose on fructose absorption was shown to be dependent on the amount added. It is concluded that children have a limited absorptive capacity for fructose. We speculate that the enhancing effect of glucose and galactose on fructose absorption may be due to activation of the fructose carrier. Apple juice in particular contains fructose in excess of glucose and could lead to abdominal symptoms in susceptible children.     

Symptoms and transmission of intestinal cryptosporidiosis.

Cryptosporidium spp are a cause of diarrhoea in toddlers. Symptoms and routes of transmission were investigated in a prospective case-control study in the city and surroundings of Basel, Switzerland. Twenty one (4.6%) out of 455 children with diarrhoea who attended paediatric and general practices from June to September 1988 were positive for cryptosporidium. The mothers of each case, of two controls with diarrhoea of another origin, and of two healthy controls were interviewed with a standardised questionnaire. In comparison with controls with diarrhoea of another origin, respiratory symptoms were significantly more frequent in children with cryptosporidiosis: eight of 19 (42%) compared with five of 38 (13%). In comparison with healthy controls, preceding contact with a person suffering from diarrhoea was associated with the greatest relative risk for cryptosporidiosis, followed by travel in a Mediterranean country. Transient cryptosporidial infection of the respiratory tract may be common in immunocompetent children. In the area investigated person to person transmission may account for most cases.     

Nitric oxide and intestinal barrier failure.

The systemic inflammatory response syndrome (SIRS) is a leading cause of morbidity and mortality in adults and children. Various proinflammatory mediators have been implicated in the pathogenesis of SIRS; however, their mechanisms of action are poorly defined. Recent evidence suggests that nitric oxide (NO) plays a regulatory role in gut barrier function. Sustained upregulation of NO production in the intestine can lead to intestinal epithelial injury through the formation of peroxynitrite. Peroxynitrite can nitrate mitochondrial proteins and inhibit cellular respiration. The resultant changes in mitochondrial function lead to activation of the caspase cascade, subsequent DNA fragmentation, and enterocyte apoptosis. Enterocyte apoptosis results in a transient "bare area" in the intestinal epithelium where bacteria can attach and then penetrate the lamina propria. Bacteria that successfully escape the immune system may in turn incite a systemic inflammatory response.