1/164. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure. ( info) |
2/164. flavobacterium meningosepticum sepsis in an infant with a diarrheal prodrome. A full term, previously normal 2 1/2-month-old black boy was transferred to our hospital from an outlying facility on hospital day 5 for failure to thrive. Three weeks before transfer, the infant was hospitalized for a diarrheal illness with fever. The baby received 3 days of ceftriaxone empirically and was discharged home after the sepsis evaluation was negative. Mild diarrhea and steady weight loss continued and the baby was readmitted. blood culture done on admission grew flavobacterium meningosepticum, an organism previously described as an uncommon cause of sepsis in neonates and immunocompromised individuals. As it is water-borne, it has been associated with infection via contaminated water. This organism is usually resistant to antibiotics commonly used for empiric treatment. To our knowledge, this is the first reported case of flavobacterium bacteremia associated with a prodromal and concurrent diarrheal illness. ( info) |
3/164. 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. ( info) |
4/164. Intractable diarrhea in a newborn infant: microvillous inclusion disease. A newborn male presented with watery diarrhea, dehydration and metabolic acidosis. Severe secretory diarrhea of variable magnitude persisted when the patient was on parenteral nutrition with no oral intake. Initial light microscopic evaluation of a small intestinal mucosal biopsy showed partial villous atrophy and crypt hypoplasia. Ultrastructural studies of the villous enterocyte revealed internalized inclusions of microvilli, typical of microvillous inclusion disease. Presented are a case report and a discussion of the differential diagnosis of watery diarrhea in the neonate, as well as a short review of microvillous inclusion disease. ( info) |
5/164. Generalized seborrheic dermatitis in an immunodeficient newborn. We report the case of a female infant with failure to thrive, generalized seborrheic dermatitis, and intermittent diarrhea. Results of laboratory investigation revealed low serum immunoglobulin g IgG levels. She failed to gain additional weight and experienced recurrent infection. She died 3 months later. ( info) |
6/164. Congenital microvillous inclusion disease presenting as antenatal bowel obstruction. Prenatal ultrasound has led to confidence in the antenatal diagnosis of intestinal obstruction allowing counseling and birth planning. We describe a male infant of a diabetic mother who had an antenatal diagnosis of distal bowel obstruction. This baby was subsequently found not to have bowel obstruction, but a congenital enteropathy - microvillous inclusion disease. The antenatal scans had demonstrated polyhydramnios as well as multiple fluid-filled dilated loops of bowel in the fetal abdomen. To our knowledge, similar prenatal ultrasound findings have not been previously described in this condition. The baby was delivered in a pediatric surgical center and postnatally there was no evidence of bowel obstruction either clinically or on abdominal X-ray. This baby initially fed well, but became collapsed and acidotic on his third day, having lost 26% of his birth weight due to excessive stool loss. The diagnosis of microvillous inclusion disease was made by electron microscopy of a small bowel biopsy. Congenital microvillous inclusion disease is a very rare inherited enteropathy with high mortality and morbidity. This condition, and other enteropathies, should be considered in cases in which antenatally diagnosed bowel obstruction is not confirmed after birth. ( info) |
7/164. vibrio cholerae diarrhoea in a three-day-old breastfed neonate. A confirmed case of cholera in a 3-day-old neonate is being reported. Possible source of infection could be by holy water (Chamamrit) given to the baby, which is common ritual in india. Mother's milk has never been reported to transmit cholera, even though mother herself may be suffering from cholera. Contaminated water can transmit the disease as there is no maternally transmitted immunity. ( info) |
8/164. Traditional tooth bud gouging in a Ugandan family: a report involving three sisters. It has been reported in the literature that some rural populations of Sub-Saharan and Eastern africa and other isolated areas around the world, practise gouging or enucleation of primary tooth buds to cure childhood illnesses. The unerupted primary canine tooth bud is believed to be the cause of febrile illness, diarrhoea, and vomiting; prevalent in infants in these areas of the world. tooth bud gouging has implications for the developing dentition, and is a potential risk to the health and life of the child. Reported prevalence ranges from 22%-90%. From the information in this case report, the practise of tooth bud gouging is no longer confined to rural areas and may well be performed by communities that have emigrated to the UK. The three sisters described, now resident in the UK, suffered tooth gouging in a city clinic in uganda. The damage caused to the primary and permanent dentition is described and treatment planning and options are suggested for each case to restore structure and function. Appropriate provision of healthcare and education could avoid the potential long-term damage to the health of the child and their developing dentition by the practise of tooth bud gouging, whether it occurs in the developing or developed world. ( info) |
9/164. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x). A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of intractable diarrhoea in neonates. ( info) |
10/164. Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. A male boy is described, who suffered from an intractable diarrhoea and several infections and who died in a severe marasmic state at the age of 8 months. Immunological studies revealed a block in the normal differentiation of B cells to Ig-producing plasma cells. After the age of 5 months, however, this block disappeared, leading to a dramatic increase in circulating Ig, most pronounced in the IgM class. In the intestine, plasma cells could only be detected after the age of 5 months, and then with a marked preponderance of IgM cells. Our results thus indicate a reversible block in the normal maturation of B cells in our patient. An older brother may have had a similar disease, suggesting a possible genetic basis for the disorder. ( info) |