1/107. 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, infant (Clic here for more details about this article) |
2/107. Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect.An instructive case of isolated congenital folate malabsorption provides insight into the understanding of this rare disease. Folate loading tests with both timed serum and cerebrospinal fluid folate determinations suggest that both of the two mechanisms involved in gastrointestinal folate absorption are defective in this condition.- - - - - - - - - - ranking = 0.054443333797436keywords = infant (Clic here for more details about this article) |
3/107. fanconi syndrome following bowel surgery and hepatitis reversed by 25-hydroxycholecalciferol.A permature male infant required intravenous alimentation for six weeks following extensive surgery for ileal and cecal necrosis. At 3 months he developed evidence of hepatitis. Subsequently osteoporosis and the fanconi syndrome appeared. urine phosphate clearance was 83 percent of creatinine clearance at a serum phosphate concentration of 1.6 mg/dl. Concentration of plasma immunoreactive parathyroid hormone was elevated at 550 pg/ml. 25-Hydroxycholecalciferol was given at 240 mug/day. Aminoaciduria disappeared and bone healing occurred. serum phosphate rose to 6.5 mg/dl and phosphate clearance fell to 2 percent of creatinine clearance. Upon cessation of 25-OHCC therapy, the fanconi syndrome recurred despite administration of vitamin D2. 25-OHCC was then administered at 40 mug/day, and the urine abnormalities were reversed. The patient probably developed hyperparathyroidism, secondary malabsorption, and hepatitis. The fanconi syndrome was the consequence of the hyperparathyroidism. 25-OHCC therapy was more effective than vitamin D in reversing the disordered state, possibly because of impaired hepatic metabolism of vitamin D2.- - - - - - - - - - ranking = 0.013610833449359keywords = infant (Clic here for more details about this article) |
4/107. Recurrent cleft lip and palate in siblings of a patient with malabsorption syndrome, probably caused by hypovitaminosis a associated with folic acid and vitamin B(2) deficiencies.We present a woman with metabolic disorders secondary to malabsorption and renal disease who gave birth to a stillborn male fetus with left unilateral cleft lip and palate and a live born infant with left unilateral cleft lip and palate. We discuss potential cofactors that could be implicated in the abnormal embryonic process.- - - - - - - - - - ranking = 0.013610833449359keywords = infant (Clic here for more details about this article) |
5/107. rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia.OBJECTIVE: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipoproteinemia, and elucidation of its pathophysiology in these conditions. METHODOLOGY: Two infants aged two and six months with abetalipoproteinemia and hypobetalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. RESULTS: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin d deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. CONCLUSION: steatorrhea-induced calcium malabsorption seems to be the most likely cause of rickets in this entity.- - - - - - - - - - ranking = 0.013610833449359keywords = infant (Clic here for more details about this article) |
6/107. An uncommon association: celiac disease and dermatomyositis in adults.We describe the case of a patient with a two-year history of adult dermatomyositis (DM) who developed malabsorption revealing celiac disease. Our observation raises the question of an association between DM and celiac disease as part of a continuum, suggesting that celiac disease may be included within the spectrum of the gastrointestinal manifestations of DM and polymyositis (PM). From a practical point of view, our data indicate that the diagnosis of celiac disease should be suspected in PM/DM patients exhibiting malabsorption syndrome. Based on our findings, we further emphasize that an evaluation for celiac disease, including anti-gliadin antibodies, anti-endomysium antibody and tissue trans-glutaminase antibodies should be considered in PM/DM patients presenting with unusual and unexplained gastrointestinal features. This could lead to the early management of such patients, resulting in decreased morbidity (i.e., malnutrition and malignancy) related to misdiagnosed celiac disease.- - - - - - - - - - ranking = 2.161648893546keywords = malnutrition, nutrition (Clic here for more details about this article) |
7/107. Torulopsis glabrata pneumonia in a malnourished woman.A middle-aged woman developed malabsorption and severe protein-calorie malnutrition after a near-total gastrectomy for a perforated gastric ulcer. A transbronchial lung biopsy showed pulmonary infection with Torulopsis glabrata. Improvement in the patient's nutritional status was followed by clearing of the pneumonia without the need for antifungal chemotherapy.- - - - - - - - - - ranking = 3.0935947262992keywords = malnutrition, nutrition (Clic here for more details about this article) |
8/107. Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease).selenium deficiency is a rare cause of cardiomyopathy that may be encountered by the forensic pathologist. selenium deficiency is associated with a cardiomyopathy, myopathy and osteoarthropathy. In asia and africa, dietary selenium deficiency is associated with a cardiomyopathy known as Keshan disease and an osteoarthropathy called kashin-beck disease. Chronic selenium deficiency may also occur in individuals with malabsorption and long term selenium-deficient parenteral nutrition. selenium deficiency causes myopathy as a result of the depletion of selenium-associated enzymes which protect cell membranes from damage by free radicals. We present a case of fulminant heart failure in a middle aged woman with a complex medical and surgical history including documented malabsorption and selenium deficiency. Pathological examination of the heart showed features consistent with Keshan disease.- - - - - - - - - - ranking = 0.93194583275321keywords = nutrition (Clic here for more details about this article) |
9/107. polymyositis as a cause of total gut failure.BACKGROUND: Gastrointestinal manifestations are seen in systemic sclerosis and mixed connective tissue disorders but are rare in pure polymyositis. CASE REPORT: A 44 year old woman with polymyositis who developed total gut failure requiring treatment with total parenteral nutrition is described. RESULTS: The patient's polymyositis is now fully controlled biochemically, but her gastrointestinal symptoms persist.- - - - - - - - - - ranking = 0.93194583275321keywords = nutrition (Clic here for more details about this article) |
10/107. vitamin a deficiency in a newborn resulting from maternal hypovitaminosis A after biliopancreatic diversion for the treatment of morbid obesity.BACKGROUND: biliopancreatic diversion (BPD) has been advocated for the treatment of morbid obesity. This procedure has the theoretical advantage that patients retain normal eating capacity and lose weight irrespective of their eating habits. However, vitamin deficiencies may develop because BPD causes malabsorption. OBJECTIVE: This report describes a 40-y-old mother and her newborn infant, who developed vitamin a deficiency as a result of iatrogenic maternal malabsorption after BPD. Our primary objective is to show that BPD patients need close follow-up and lifelong micronutrient supplementation to prevent nutrient deficiencies in themselves and their offspring. DESIGN: The medical records of the mother and infant were reviewed, and their clinical course was followed until 10 mo postpartum. The mother was also interviewed on several occasions about her medical care, follow-up, and supplemental vitamin use. RESULTS: The mother developed night blindness with undetectable serum vitamin A concentrations in the third trimester of her pregnancy. Her vitamin a deficiency was untreated until she delivered her infant. At delivery, the infant also had vitamin a deficiency. He may have permanent retinal damage, but this is still unclear because the ophthalmologic examination performed at 2 mo of age was inconclusive. CONCLUSIONS: Complications of BPD may take many years to develop, and the signs and symptoms may be subtle. Because of the malabsorption that results from BPD, patients need lifelong follow-up and appropriate vitamin supplementation to prevent deficiencies. These nutrient deficiencies can also affect the offspring of female BPD patients.- - - - - - - - - - ranking = 0.054443333797436keywords = infant (Clic here for more details about this article) |
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