1/26. 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.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
2/26. 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.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
3/26. Microvillus inclusion disease as a cause of severe protracted diarrhea in infants.There are many etiologies responsible for severe intractable diarrhea in infancy, for instance, autoimmune enteropathy, microvillus inclusion disease, tufting enteropathy, food allergy, post-enteritis syndrome, chronic intestinal pseudo-obstruction, Hirschsprung's disease, intestinal lymphangiectasia, congenital sodium or chloride diarrhea, and congenital enzymatic deficiency. This article reports a case of microvillus inclusion disease in a Thai patient. He presented with severe intractable watery diarrhea with persistent metabolic acidosis. After extensive investigation, the diagnosis of microvillus inclusion disease was made, based on the ultrastructural findings of microvillus inclusions in the cytoplasm of the enterocyte on electron microscopic study. Various treatments were introduced to the patient without clinical improvement, including cholestyramine, metronidazole, probiotics, and octreotide. He was dependent on total parenteral nutrition and subsequently died from TPN-related complications. Even though it is a rare disease, it should be considered if an infant has chronic secretory diarrhea.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
4/26. Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.A 3-year-old girl had severe intractable diarrhea with trichorrhexis nodosa and cirrhosis. This patient was referred to the pediatric dermatology clinic for lifelong brittle hair. The brittle hair microscopically demonstrated trichorrhexis nodosa. The girl also had facial dysmorphism, with a prominent forehead and cheeks, broad flat nose, and hypertelorism. She had a history of severe intractable diarrhea since 2 weeks of age and failure to thrive requiring lifelong total parenteral nutrition (TPN). hepatomegaly was noted and prompted liver biopsy which demonstrated cirrhosis. Mental retardation and developmental delay was also found upon examination. This child may be included in the syndrome of intractable infant diarrhea, an entity known in the gastroenterology literature but yet not reported in the dermatologic literature. Dermatologists should be aware of this syndrome in which trichorrhexis nodosa is commonly seen.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
5/26. Extreme short bowel syndrome in a full-term neonate--a case report.Massive small bowel resection often leads to long-term parenteral nutrition. The authors present a term-born, 3-day-old boy with midgut volvulus in whom only 17 cm of small bowel was left after resection. This patient was weaned from parenteral nutrition after 7 months. Temporary parenteral nutrition-associated cholestasis was treated with ursodeoxycholic acid.- - - - - - - - - - ranking = 3keywords = nutrition (Clic here for more details about this article) |
6/26. Microvillous inclusion disease.Congenital defects in the intestinal mucosa can provoke diarrhea in the neonatal period. This kind of diarrhea is difficult to treat and the outcome is bad if intestinal transplantation is not done. We describe the case of newborn female with severe protracted secretory diarrhea, which started after first oral intake of breast milk. The newborn presented with severe dehydration and persistent metabolic acidosis though potential treatment was not stopped. endoscopy with the biopsies from the distal part of duodenum mucosa was done on the third week of life. Histological examination revealed the pathological mucosa with the total microvillous atrophy, surface epithelium thinning and histochemical PAS (periodic acid-schiff reaction) positivity of enterocytes apical region. These changes are typical for rare microvillous inclusion disease. When the diagnosis of microvillous inclusion disease is made, the only treatment is total parenteral nutrition and intestinal transplantation.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
7/26. Non-antibiotic associated C. difficile diarrhea in a 7 week-old infant.We describe a rare case of non-antibiotic associated severe C. difficile diarrhea in a 7-week-old boy. He had massive fluid loss and electrolyte imbalance. He required total parentral nutrition for 10 days and eventually recovered with oral metronidazole. Most of the reported cases in literature are associated with prior antibiotic exposure or in hospitalized patients.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
8/26. Congenital intractable diarrhea with possible defective crypt regeneration: report of a case.A male infant, born uneventfully from a consanguinous marriage, presented with intractable watery diarrhea from his third day of life, with subsequent malnutrition and failure to thrive. He received central parenteral nutrition beginning at three months of age after a poor response to a semielemental diet and peripheral parenteral nutrition. He was totally dependent on central parenteral nutrition thereafter. Although diarrhea disappeared with strict bowel rest, intolerance to minimal enteral feedings persisted throughout his 2 years 4 months of life. Investigations including stool examinations and repeated cultures, immune function studies, radiologic studies of the small bowel and screening for galactosemia and cystic fibrosis could not demonstrate a specific cause for the diarrhea. Repeated small intestinal biopsies at 1 month, 4 months and 1 year 5 months of age showed persistent villous atrophy with crypt hypoplasia and a low crypt mitotic index. Electron microscopic examination revealed normal-appearing microvilli. This child may have had a congenital enteropathy due to an inborn crypt regeneration defect causing lifelong intolerance to enteral feedings.- - - - - - - - - - ranking = 4keywords = nutrition (Clic here for more details about this article) |
9/26. Necrotizing enterocolitis: an overlooked life-threatening complication of acute diarrhoeal illness in infants and children.A 7-month-old girl developed necrotizing enterocolitis with extensive pneumatosis intestinalis following an acute diarrhoeal illness. This was preceded by the use of an anti-motility drug and repeated attacks of paralytic ileus. It is noteworthy that all the published cases of necrotizing enterocolitis following acute diarrhoeal illness in infants and children are from tropical countries. This might be related to the use of anti-diarrhoeal drugs and associated malnutrition resulting in hypokalaemia and hypoalbuminaemia.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
10/26. Congenital diabetes mellitus and fatal secretory diarrhea in two infants.Two unrelated male infants presented with brittle insulin-dependent diabetes mellitus in the first days of life. Subsequently they each developed severe secretory diarrhea, with stool volumes of more than 100 ml/kg/day. Extensive biochemical and serological investigation failed to reveal the etiology of the diarrhea. The infants, cared for at different institutions, underwent therapeutic trials of various agents including loperamide, cholestyramine, prednisone, indomethacin, and somatostatin analogue, without response. Both infants succumbed to septicemia and malnutrition related to diarrhea and poor control of glycemia. At autopsy, both were found to have absence of islets of langerhans in the pancreas, and diffuse dysplastic changes in small and large intestinal mucosae. In particular, the entire alimentary tract in each case was lined by epithelia most typical of foregut mucosa: secretory-type glands, absent crypts of Lieberkuhn, and absent villi. These cases are contrasted with previously-reported infants with congenital diabetes mellitus, and the possible interrelation of these two highly unusual findings, congenital diabetes mellitus and diffuse intestinal dysplasia, is examined.- - - - - - - - - - ranking = 1keywords = nutrition (Clic here for more details about this article) |
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