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Intestinal malabsorption in the child usually manifests by chronic diarrhoea and (or) deficiency of growth and weight gain. Given the wide diversity of causes, diagnosis is primarily based on history-taking and clinical examination, which subsequently directs investigations. Stool examination was long the reference to confirm malabsorption and to determine its mechanisms: impaired digestion (external pancreatic insufficiency), malabsorption (intolerance to cow's milk proteins or to gluten), fermentation (intolerance to primary or secondary sugars). Presently, however, the diagnosis is usually made on the basis of several simple examinations.

Malabsorption has miscellaneous clinical and biological presentations. They may vary according to the site of the absorption abnormality (luminal, parietal, vascular transport), its type and severity. The problem of the physician is to become alerted to the possibility of malabsorption in patients who present with signs and symptoms which may be the concern of almost any specialist beside gastroenterologists. Patient history, type of signs and symptoms, physical examination and simple biochemical and haematological parameters may be of major interest in this regard and will help in the choice of the functional tests to perform. They will confirm the presumed malabsorption, precise its type and severity and may guide towards its aetiology, the precise diagnosis of which will usually require other investigations.

Background: Fecal elastase-1 (E1) is a sensitive and reliable test in the assessment of exocrine pancreatic function in cystic fibrosis (CF). In patients with celiac disease (CD), different E1 values have been reported. E1 levels in other malabsorption conditions are unknown. Therefore, the aim of the present study was to evaluate E1 concentrations in various malabsorption syndromes., Material and Methods: The study was carried out in 54 patients, selected from patients referred with suspicion of CF, who had been diagnosed as celiac disease (CD; n = 16), secondary malabsorption syndrome (SMS, giardiasis- or cow milk-related enteropathy; n = 18) and food allergy (FA; n = 20). 70 age-matched healthy children (HC) and 131 cystic fibrosis (CF) patients served as control groups. In CD and SMS patients, a gluten-free diet was introduced. In addition, SMS patients were treated appropriately to underlying disease. In all subjects, E1 concentrations were measured. In CD and SMS patients, E1 concentrations were repeatedly measured after one year of the treatment., Results: With a cut-off level of 200 microg g-1, abnormal E1 concentrations were found in 87.2% of the CF group and in 56.2% and 50.0% of the CD and SMS subgroups, respectively. In none of FA patients, were E1 values below the normal range. After mucosal recovery, E1 concentrations in patients with CD and SMS increased, suggesting that villous atrophy can diminish exocrine pancreatic secretion. In 18 out of 19 CD and SMS patients with abnormal E1 concentrations, monitored for at least 12 months of a gluten-free diet, abnormal E1 concentrations increased above the cut-off value to normal range. Two out of the 54 referred patients were finally diagnosed as having CF, one with stable low E1 levels and the second with finally normal values., Conclusions: The exocrine pancreatic function is decreased in villous atrophy regardless of underlying disease. The specificity of the fecal elastase-1 test in the differentiation between 'primary' exocrine pancreatic insufficiency and intestinal malabsorption with mucosal atrophy is low. After mucosal regeneration, fecal elastase-1 specificity is high.

Background: Little is known about the pathogenesis of Whipple disease, the reservoirs of Tropheryma whippelii, and the proportion of persons harboring the bacterium without "classic" intestinal abnormalities., Objective: To assess the presence of T. whippelii in patients undergoing upper endoscopy for a variety of indications., Design: Prospective and routine diagnostic examination of patients., Setting: Three academic medical centers in California; Minnesota; and Heidelberg, Germany., Patients: 342 patients undergoing endoscopy for evaluation of dyspepsia or possible peptic ulcer (group A, 173 patients), malabsorption (group B, 37 patients), or clinical suspicion of Whipple disease (group C, 132 patients)., Measurements: Small-intestinal biopsy specimens were tested by polymerase chain reaction for T. whippelii DNA and examined for histopathologic abnormalities., Results: All patients with negative histologic findings also had negative results for T. whippelii DNA., Conclusions: T. whippelii occurs only rarely in intestinal mucosa that lacks histopathologic evidence of Whipple disease. The human small intestinal mucosa is an unlikely reservoir for this organism.

Three children with malabsorption presumably caused by celiac disease had undergone jejunal biopsy. While a histological examination revealed microvacuolization of enterocytes in the absence of celiac lesions, an ultrastructural investigation disclosed numerous chylomicrons and larger lipid vacuoles inside the cytoplasm of enterocytes, mostly in the supranuclear region. No chylomicrons were evident in the interstitium between adjacent enterocytes, as observed in normal subjects. These ultrastructural findings allowed for the diagnosis of "Chylomicron retention disease" (CRD). CRD was described for the first time by Anderson in 1961, and it is included in the group of disorders of biosynthesis and secretion of B apolipoproteins (apoB). This disease, in particular, appears to result from a specific defect involving the secretion of lipoproteins containing apoB-48 from the gut, with the complete absence of post prandial chylomicrons in the sera. CRD needs to be recognized early because of its adverse effects on growth and its potential for neurological and ocular complications, and the ultrastructural identification of chylomicron-size lipid droplets clustered in the enterocytes, with the absence of fat outside the cells, represents the gold standard to identify CRD. together with clinical aspects and laboratory measurements. In this study, we describe the histological and ultrastructural aspects observed in three pediatric cases of CRD.

Background: The common but incompletely understood entity of malabsorption of food bound cobalamin is generally presumed to arise from gastritis and/or achlorhydria., Aim: To conduct a systematic comparative examination of gastric histology and function., Subjects: Nineteen volunteers, either healthy or with low cobalamin levels, were prospectively studied without prior knowledge of their absorption or gastric status., Methods: All subjects underwent prospective assessment of food cobalamin absorption by the egg yolk cobalamin absorption test, endoscopy, histological grading of biopsies from six gastric sites, measurement of gastric secretory function, assay for serum gastrin and antiparietal cell antibodies, and direct tests for Helicobacter pylori infection., Results: The six subjects with severe malabsorption (group I) had worse histological scores overall and lower acid and pepsin secretion than the eight subjects with normal absorption (group III) or the five subjects with mild malabsorption (group II). However, histological findings, and acid and pepsin secretion overlapped considerably between individual subjects in group I and group III. Two distinct subgroups of three subjects each emerged within group I. One subgroup (IA) had severe gastric atrophy and achlorhydria. The other subgroup (IB) had little atrophy and only mild hypochlorhydria; the gastric findings were indistinguishable from those in many subjects with normal absorption. Absorption improved in the two subjects in subgroup IB and in one subject in group II who received antibiotics, along with evidence of clearing of H pylori. None of the subjects in group IA responded to antibiotics., Conclusions: Food cobalamin malabsorption arises in at least two different gastric settings, one of which involves neither gastric atrophy nor achlorhydria. Malabsorption can respond to antibiotics, but only in some patients. Food cobalamin malabsorption is not always synonymous with atrophic gastritis and achlorhydria, and hypochlorhydria does not always guarantee food cobalamin malabsorption.

The use of small intestinal biopsy for diagnosis in diarrhea and suspected malabsorption depends on an optimal interaction between the clinician-endoscopist and the pathologist. This necessitates open and interactive communication between involved physicians and an appreciation for correct tissue handling and biopsy orientation in the endoscopy unit and the pathology laboratory. Classification of biopsy changes on the basis of architectural abnormalities in the small intestinal biopsy may be helpful in defining the diagnosis and include severe (flat) or variably severe (mild or moderate) abnormalities. For some small intestinal disorders that are characterized by diarrhea or malabsorption, the biopsy findings may be distinctive and lead to a specific diagnosis. For others, like celiac disease, the changes are less specific, and it has become better recognized that an increasing number of conditions can produce similar histopathologic changes. Definition of typical gluten-sensitive biopsy changes in this disorder is critical.

Five malabsorption syndrome (MAS) homogenates from The Netherlands and Germany were used to reproduce MAS in broilers. We studied the histopathology after inoculation of 1-day-old broiler chicks and the agents that might be involved. Generally, the MAS homogenates induced signs that differed in severity and pathobiology. We could distinguish and classify the inoculated groups best by histopathology: proventriculitis, lesions in the small intestines in combination with proventriculitis, or lesions of the small intestines only. Lesions in the small intestine had more impact on weight gain depression than lesions in the proventriculus. In three out of five inoculated groups, microscopic lesions of the pancreas were found. Reovirus was detected in the inoculated groups by virus isolation and seroconversion, and reoviral antigen was detected by immunohistochemistry of the small intestine. Also, enteroviruslike particles were detected in three of the five inoculated groups, although not in the most affected group. Additionally, bacteriophages and bacteria (hemolytic Escherichia coli, Pasteurella hemolytica, and Enterococcus durans) were isolated from inoculated chicks. The role these agents play in pathogenesis of MAS is still unsolved.

Microsomal triglyceride transfer protein (MTP) is a dimeric protein complex consisting of protein disulfide isomerase and a unique 97 kDa subunit. In vitro, MTP accelerates the transport of triglyceride, cholesteryl ester, and phospholipid between vesicles. It was recently demonstrated that abetalipoproteinemia, a disease characterized as an inability to produce chylomicrons and very low density lipoproteins in the intestine and liver, respectively, is the result of a genetic absence of MTP. Downstream effects resulting from this defect, include very low plasma cholesterol and triglyceride levels, absence of plasma apolipoprotein B and a lipid malabsorption syndrome, leading to lipo-soluble vitamin deficiencies. A low fat diet is instituted to eliminate the diarrhea. In addition, a therapy with vitamins A and E is essential to prevent patients from developing secondary effects such as neuropathy, muscle weakness, and retinopathy.

A syndrome of chronic diarrhea, vomiting, and failure to thrive was described 35 years ago. The syndrome was caused by damage in the jejunum after ingestion of cow's milk. Symptoms appeared in young infants shortly after introduction of cow's milk formula. Patients had moderate steatorrhea, decreased absorption of D-xylose, and, often, iron-deficiency anemia and hypoproteinemia. They had strong IgA and IgG antibodies to cow's milk. IgE antibodies to cow's milk were negative, as a rule. Indicators of cell-mediated immune reaction to cow's milk proteins were often positive. Patients were tolerant to cow's milk by the age of 3 years. Malabsorption was due to damage to the jejunal mucosa: Varying villus atrophy was associated with inflammation in surface epithelium and lamina propria. The epithelial cell renewal rate increased. Surface epithelial cells decreased in height, with short, furry microvilli and large aggregates of lysozymes. The number of intraepithelial lymphocytes was markedly increased, but normalized during cow's milk elimination. Most of these lymphocytes had alpha/beta T-cell receptors, and many were cytotoxic. Some specimens had an increase in gamma/delta T-cell receptor-bearing cells. In the lamina propria, CD4+ cells predominated, and some of them were activated. IgA- and IgM-containing cells were markedly increased during cow's milk exposure, but IgE cells were not abnormal. The density of eosinophils was moderately increased. Secretion of interferon-gamma by cells isolated from patients' intestines was markedly increased. Morphologic and immunologic findings suggest that T-cell-mediated reaction to proteins in cow's milk is present in the small intestines of patients with this syndrome and causes this enteropathy.

Anderson's disease is a rare, hereditary hypocholesterolemic syndrome characterized by chronic diarrhea, steatorrhea, and failure to thrive associated with the absence of apo B48-containing lipoproteins. To further define the molecular basis of the disease, we studied 8 affected subjects in 7 unrelated families of North African origin after treatment with a low-fat diet. Lipid loading of intestinal biopsies persisted, but the pattern and extent of loading was variable among the patients. Electron microscopy showed lipoprotein-like particles in membrane-bound compartments, the densities (0.65 to 7.5 particles/mu(2)) and the mean diameters (169 to 580 nm) of which were, in general, significantly larger than in a normal fed subject (0.66 particles/mu(2), 209 nm mean diameter). There were also large lipid particles having diameters up to 7043 nm (average diameters from 368 to 2127 nm) that were not surrounded by a membrane. Rarely, lipoprotein-like particles 50 to 150 nm in diameter were observed in the intercellular spaces. Intestinal organ culture showed that apo B and apo AIV were synthesized with apparently normal molecular weights and that small amounts were secreted in lipid-bound forms (density <1.006 g/mL). Normal microsomal triglyceride transfer protein (MTP) and activity were also detected in intestinal biopsies. Segregation analyses of 4 families excluded, as a cause of the disease, significant regions of the genome surrounding the genes for apo AI, AIV, B, CI, CII, CIII, and E, as were the genes encoding 3 proteins involved in intracellular lipid transport, MTP, and fatty acid binding proteins 1 and 2. The results suggest that a factor other than apoproteins and MTP are important for human intestinal chylomicron assembly and secretion.

We describe a 52-year-old woman who presented with severe diarrhea, nausea, intermittent abdominal pain and weight loss of 18 kg within ten months. Jejunal and duodenal ulcers were detected by endoscopy and multiple biopsies revealed villous atrophy of the jejunum. However, neither gliadin nor endomysium antibodies were detected and no clinical and histological improvement was achieved after gluten withdrawal. Despite strong clinical suspicion for intestinal lymphoma many unrevealing biopsies were done. The patient developed intermittent septic fever and diagnostic laparotomy revealed jejunal perforation. Partial jejunal resection was performed and histology confirmed the diagnosis of an intestinal T-cell lymphoma without celiac disease. Malabsorption and all intestinal ulcers disappeared during the course of chemotherapy (six cycles CHOP) and the patient recovered remarkably.

We sought to determine, in a piglet model, whether severe sugar malabsorption causes colonic injury or inflammation. Twenty-four piglets were randomized to receive either control formula (CON) or CON supplemented with lactulose (LAC) (N = 12 each group). After seven days, inflammation, apoptosis, and crypt cell proliferation were assessed in the proximal colon (cecum). Lactulose feeding caused persistent diarrhea. In both groups, breath H2 concentration was low, suggesting no increased fermentation in the LAC group. Weight gain/volume formula intake was identical in the CON and LAC groups (0.09+/-0.13 and 0.09+/-0.11 g/ml) respectively. Injury to the colon did not occur, but inflammation of the colon (scale 0-5) was greater in LAC (score of 1.5+/-1.38) than in CON (0.42+/-0.79; P<0.05). Cell proliferation at the basal 40% of the crypt was 92% increased in CON (labeling index 22.8+/-9.9 vs. 11.9+/-2.8; P<0.05). We conclude that persistent feeding during severe sugar malabsorption permits weight gain but may cause colitis.

One hundred children put on a gluten free diet because of suspected coeliac disease were followed for a mean period of 9.9 years. The diagnosis was eventually confirmed in 53. Under the age of two, 35 children showed subtotal villous atrophy in their initial biopsy but nine of these on subsequent gluten challenge and rebiopsy were found to tolerate gluten normally. Challenge and rebiopsy are also necessary for children over the age of two where the initial biopsy changes are less severe than subtotal villous atrophy. Such challenges can probably be carried out earlier than the recommended age of six given in the 1990 ESPGAN (European Society for Paediatric Gastroenterology and Nutrition) report with little risk of serious dental damage.

Chronic non granulomatous ulcerative jejunoileitis a very infrequentity characterized by malabsorption and ulcerations of the small intestine which usually involve the jejunum and ileum. A case of a woman diagnosed with malabsorption syndrome requiring laparotomy due to worsening of a picture of malabsorption and the presence of stenosis and ileal ulceration, demonstrating villous atrophy and lymphoplasmocytic infiltration in the histology compatible with this disease is presented.

We report a nephrotic syndrome patient with eosinophilia who developed ileus, epigastralgia and malabsorption due to strongyloidiasis which became symptomatic by steroid therapy. The patient was then treated with thiabendazole and recovered. A percutaneous renal biopsy revealed minimal change nephrotic syndrome. This renal injury may be brought on by severe infection of Strongyloides stercoralis. It is important to rule out strongyloidiasis prior to corticosteroid therapy to patients from eosinophilia endemic areas.

Human immunodeficiency virus (HIV) is often combined with unexplainable diarrhoea and weight loss. This study was designed to see if changes in the intestinal mucosal structure could explain the malabsorption found in HIV-infected patients with diarrhoea. Twenty acquired immunodeficiency system (AIDS) patients, 19 men and 1 woman, CD4 < 0.01, with severe weight loss and with non-infectious chronic diarrhoea, were evaluated using a new intestinal function test (D-xylose breath test). Fifteen of the subjects were examined with an upper intestinal endoscopy with biopsy specimens taken from the duodenal mucosa. The function test showed that the D-xylose uptake was markedly decreased to the same extent as for patients with coeliac disease (breath index AIDS patients 9.4 (4.3-14.4), coeliac patients 15.6 (7.6-23.6), reference level 2.5 (2.4-2.9), urine excretion AIDS patients 20% (13-26), coeliac patients 22% (14-24), reference level 37% (32-42)). The severe malabsorption could not be explained by the slight mucosal changes occasionally seen by light microscopy with small mucosal inflammation and almost normal villi. However, electron microscopy showed enterocytes with signs of hypofunction and degeneration correlating better to the intestinal malabsorption found in patients with advanced HIV infection and chronic diarrhoea.

Objective: To screen patients with SLE for malabsorption., Methods: Twenty-one patients fulfilling the American College of Rheumatology (ACR) criteria for SLE were enrolled in the study. Patients were screened for malabsorption by the D-Xylose test (DXT) and by microscopic examination of the stool for fat droplets. All patients underwent upper GI endoscopy with biopsy from the second portion of the duodenum. The specimen was examined for morphologic abnormalities and for the presence of IgG, IgM, IgA, and kappa and lambda light chains. Ten patients without SLE served as controls., Results: A history of abdominal pain and occasional diarrhea was elicited in 2/21 patients. These patients were found to have an abnormal DXT and excessive fecal fat excretion. In one of these patients, histologic examination revealed flattened and deformed villi with an inflammatory infiltrate. Two other patients showed isolated excessive fecal fat excretion with a normal microscopic appearance of the mucosa. In 20/21 patients the small bowel histology was normal. In all patients, immunoperoxidase staining revealed a normal quantity and distribution of the immunoglobulins and light chains within the intestinal mucosa. No correlation was demonstrated between CH50, C3, C4, anti-dsDNA levels and the malabsorption., Conclusion: In this series of SLE patients, the prevalence of malabsorption was 9.5%, and was even higher if isolated fat malabsorption was considered. A search for malabsorption in patients with SLE, and in particular in those with abdominal complaints, is recommended. The pathogenesis is not yet clear and warrants further investigation.

This work concerns the level of anti-gluten IgA in Coeliac disease, following subjects who have already been diagnosed by clinical signs, biopsy and measurement of anti-gluten IgA. Even if this study had been limited only to a single patient, it would have shown well the clinical sensitivity to these levels, so allowing the following of the development, correlated with improvement of the clinical symptoms with lowering of the level of anti-gluten IgA.

Background: Magnification endoscopy and chromoendoscopy together have been used to evaluate mucosal detail in a number of conditions, including Barrett's esophagus and flat colonic polyps, but they have not been used to evaluate villous atrophy in the proximal small intestine., Methods: Thirty-four patients suspected of having a malabsorption syndrome (either celiac disease or tropical sprue) were evaluated using an Olympus magnification gastroscope in both normal and high magnification settings. Indigo carmine dye spraying techniques were used to assist in evaluating duodenal mucosa for evidence of villous atrophy. The accuracy of endoscopically predicted villous atrophy was assessed by histologic evaluation of biopsy specimens taken in the descending duodenum., Results: Magnification endoscopy with dye spraying was both highly sensitive (94%) and specific (88%) in identifying patients with villous atrophy. This technique was more accurate (91%) in identifying patients with partial atrophy than standard endoscopy (9%, p < 0.01) and was also useful in identifying patients with patchy villous atrophy (5 of 5) to allow directed biopsies of abnormal tissue., Conclusion: Magnification endoscopy with chromoendoscopy is a promising technique for the evaluation of patients with suspected malabsorption. This technique is especially valuable in patients with partial atrophy, where villous abnormalities can be patchy and the duodenum usually appears normal during standard endoscopy.

We describe a 39-year-old woman with an 8-month history of abdominal pain, diarrhea, and weight loss. Clinical and laboratory evaluation indicated the presence of a malabsorption syndrome. Endoscopy revealed multiple gastric ulcerations and an abnormal "picture" of the duodenal mucosa. At duodenal biopsy, necrosis confined to the distal parts of the enteric villi and a polymorphonuclear leukocyte response were found. Further evaluation revealed intestinal ischemia as a result of mesenteric atherosclerosis. After a revascularization procedure was performed, the symptoms disappeared. The macroscopic and microscopic picture of the bowel normalized. In our search for risk factors of atherosclerosis, we found a substantially increased basal plasma homocysteine concentration. This case suggests that hyperhomocysteinemia may have a causal role in the development of symptomatic, premature atherosclerosis of the mesenteric circulation.

The aim of this study was to examine serum levels of beta-2-microglobulin (b-2-m) in 132 children at various stages for the evaluation of celiac disease (CD). Serum b-2-m was analyzed by a radio immunoassay (RIA) method, using a beta-2-micro RIA kit (Pharmacia, Uppsala, Sweden). The mean concentration of b-2-m in children with an established diagnosis of CD was 4.38 +/- 1.86 mg/l. In children receiving a gluten-free diet, the mean b-2-m concentration was 1.95 +/- 1.09 mg/l, and in children who received a gluten-containing diet, the concentration was 3.19 +/- 0.71 mg/l. In children with CD who were on a gluten-free diet and who presented no antibodies against EmA in class IgA serum, b-2-m concentration was within the normal range (1.86 +/- 0.55 mg/l). The concentration of b-2-m in children with secondary malabsorption syndrome was within the physiological range (1.77 +/- 0.64 mg/l). In children with IgA-EmA antibodies present in serum, the b-2-m concentration was significantly higher (3.5 +/- 1.23 mg/l; P < 0.001) than that in children with IgA-EmA in serum. We showed a linear dependence between the degree of villous atrophy in CD and concentrations of b-2-m in serum (r2 = 0.94). Determination of b-2-m concentration in sera of children with CD may be used to monitor treatment with a gluten-free diet and to differentiate secondary malabsorption syndrome from CD.

This article reports on steatorrhea, daily food intake, and fecal substances other than fecal fat (e.g., neutral sterols, bile acids, short-chain fatty acids) in pancreatic exocrine dysfunction arising from chronic pancreatitis (CP) in Japanese. European, and American patients. Changes in upper small intestinal pH and lipase secretion, plasma fatty acid profiles, serum fat-soluble vitamin levels and symptoms of their deficiency, and nutritional status are discussed in detail. Treatment of pancreatic steatorrhea is described. Throughout this study, we compared characteristics of maldigestion and malabsorption in these patient populations and our study revealed that fecal fat excretion reflected quantitative differences in fat consumption, plasma fatty acid profiles reflected quantitative and qualitative differences in fish oil consumption, and there were no differences in pancreatic exocrine dysfunction among these three groups. Since differences in fecal fat excretion and plasma fatty acid profiles appear to depend on dietary fats, the pathology and treatment of CP patients should be evaluated and the findings used to prescribe treatments.

The combination of the eosinophilic infiltration of the stomach, small and large intestine with psoriasis is described. Diarrhea and syndrome of the disturbed absorption in eosinophilic gastroenteritis coincided with exacerbation of the skin disease. Clinical regression of both conditions with disappearance of peripheral eosinophilia occurred simultaneously. Participation of T-cell immunity and IgE is suggested as a pathogenetic mechanism of eosinophilic gastroenteritis and psoriasis.

A 54-year-old female presented with a pulmonary infection that resolved completely with antibiotic treatment. Peripheral blood films showed features characteristic of splenic hypofunction, and radiolabelling studies confirmed an absence of splenic reticulo-endothelial cell activity, which is typical of functional asplenia. The patient had a remote history of watery diarrhea but no clinical and laboratory features of malabsorption. Extensive upper and lower gastrointestinal tract biopsy studies revealed histopathological features of collagenous colitis without gastric or small intestinal inflammatory changes or epithelial lymphocytosis. Hyposplenism has been associated with different gastrointestinal disorders, particularly celiac disease. This is the first report of functional asplenia and microscopic collagenous colitis.

The authors report the case of an 85-year-old woman with rapidly progressive occlusive vascular disease of the small intestine confirmed at autopsy, and with malabsorption syndrome highlighted by radiological and laboratory tests. The interest of this case is the confirmation that vascular enteropathy, whether occlusive or not, may damage the intestinal mucosa to such an extent that it severely alters the absorption function.

We prospectively evaluated the diagnostic yield of push enteroscopy using either the Olympus SIF 10-LY fiberscope or the SIF-100 video enteroscope in 120 patients suspected of having small-bowel pathology. Insertion beyond the ligament of Treitz, checked by fluoroscopy, ranged from 30 to 150 cm (median 100). The source of bleeding was identified in 25 (41%) of 61 patients referred for gastrointestinal bleeding of obscure origin; vascular malformations were the most common finding, followed by neoplasias. Of 16 patients with inherited polyposis syndromes, multiple distal duodenal or jejunal hamartomas were diagnosed in five of six with Peutz-Jeghers syndrome and multiple duodenal or jejunal adenomas in six of 10 with familial adenomatous polyposis. Overall, isolated vascular malformations were successfully cauterized in three patients, and polypectomy was performed in 12 patients. Endoscopic and histological alterations, in both duodenum and jejunum, were found in 16 of 43 patients with diarrhea and/or malabsorption of unclear origin. The remaining 27 had normal duodenal and jejunal mucosal appearances; six had abnormal histological findings only in the jejunum and one both in the duodenum and in the jejunum. If we take jejunal histology as diagnostic, the sensitivity of duodenal histology was 74% and the specificity was 100%. We conclude that push enteroscopy provides useful diagnostic information and has therapeutic capabilities in patients with small-bowel pathology.

Objective: Enteropathogenic Escherichia coli (EPEC) strains are able to adhere to human intestinal tissue inducing a typical lesion causing dissolution of the brush border membrane and loss of microvillus structure at sites of bacterial attachment. The presence of these lesions can provoke perpetuation of diarrhea associated with malabsorption of the nutrients and nutritional aggravation. In this paper we report the nutritional impact of severe EPEC gastroenteritis in infants in a small bowel ultrastructural study., Methods and Results: Two infants aged 3 months and one 4 month old infant with profuse watery diarrhea lasting less than 6 days were studied. After rehydration therapy, the patients were fed a cow's milk formula and since food intolerance was diagnosed, a protein-hydrolisate, lactose-free formula was introduced. This dietary modification was successful, diarrhea ceased, the patients were discharged and followed up for 30 days. The following EPEC strains were identified in the stools and in the jejunal secretion: O111ab:H2, O119:H6 and O18ab:H14. A small bowel biopsy was performed and the electron microscopic study revealed bacteria tightly adhered to the apical portion of the enterocyte and effacement of the microvilli. These lesions were more prominent in the areas where bacteria were present., Conclusion: The patients underwent an acute nutritional aggravation due to food intolerance, but the introduction of a protein-hydrolisate, lactose-free formula, allowed prompt cessation of diarrhea and nutritional recovery.

A case of mixed connective tissue disease (MCTD) in a female with positive ribonucleoprotein antibody and overlapped manifestations of systemic lupus erythematosus and dermatomyositis is presented. During the last 9 years of her 13 year clinical course, she repeatedly manifested abdominal distension, pneumoperitoneum and malabsorption syndrome. She died, aged 54 years, of respiratory failure secondary to pulmonary compression from marked abdominal distention. Autopsy revealed esophageal fibrosis with ulceration and the typical appearance of pneumatosis cystoides intestinalis (PCI), in association with atrophy and fibrosis of the inner circular muscle layer of the small bowel. The association of PCI with MCTD is reviewed briefly.

This study was performed to confirm the existence of immunoproliferative small intestinal disease (IPSID) in Pakistan. Clinicopathological features of 12 patients with histologically confirmed disease were analysed. Patients were mostly young males with median age of 24.6 years. Two thirds belonged to poor socioeconomic class. Main presenting features were chronic diarrhoea and weight loss. Eleven patients had radiologic evidence of malabsorption syndrome. Endoscopic findings of mucosal thickening, edema, and flattened villi were present in the majority. Patients had both secretory and non-secretory types of disease. Six patients presented with stage A disease. Four responded to antibiotics or steroids, although mucosal abnormalities persisted in three. Two stage A patients evolved into stage C disease, one was lost to follow-up, the other is alive with disease. Three patients presented with stage B disease. Two responded completely to chemotherapy, the third refused treatment and expired after 16 months. Three patients had stage C disease at diagnosis. They received aggressive combination chemotherapy and remain in complete remission with a median follow-up of 2.2 years. This is the first series of patients with IPSID reported from Pakistan. Clinicopathological features and therapeutic results are consistent with the experience elsewhere. Increased awareness may result in early diagnosis and better management.

The D-xylose breath H2 test may be useful in characterizing intestinal absorptive function. Our aim was to determine whether breath H2 following D-xylose administration reflects the extent to which the D-xylose is absorbed by comparing it to a kinetic model of D-xylose absorption. Twenty-five subjects were studied. They ingested 15 g D-xylose on the first day and 25 g D-xylose on the third day. On the second day they received 10 g intravenous D-xylose along with 15 g oral lactulose. Multiple serum and urine samples were obtained for D-xylose content to calculate its rate constants and extent of absorption by multicompartmental analysis. Breath H2 determinations were obtained every 15 min for 3 hr following the 15 g D-xylose and lactulose ingestion. Peak breath H2 concentration correlated with extent of absorption (r = -0.787, P < 0.001), K0, the rate constant for nonabsorptive loss (r = 0.744, P < 0.001), and 5-hr urine content (r = -0.705, P < 0.001). Area under the breath H2 curve also correlated with these parameters: extent of absorption (r = -0.770, P < 0.001), K0 (r = 0.662, P < 0.001), 5-hr urine content (r = -0.629, P < 0.012). Peak D-xylose breath H2 to peak lactulose breath H2 showed no correlation with extent of absorption. The extent of absorption was higher with the 15-g dose than the 25-g dose in all patients tested (P < 0.01). (ABSTRACT TRANCATED AT 250 WORDS)

Myopathy associated with desmin-type intermediate filaments is an uncommon disorder of skeletal and/or cardiac muscle. The present study focuses on a 28-year-old man with generalized muscular atrophy, cardiomyopathy, and intestinal malabsorption and pseudo-obstruction. Abundant sarcoplasmic granular and filamentous aggregates that were ultrastructurally continuous with Z lines or dense bodies and exhibited intense immunostaining for desmin were present throughout the skeletal musculature, myocardium, and smooth muscle of the intestine. Moreover, neurofilament-immunoreactive axonal spheroids were identified in the spinal cord and roots. These widely distributed findings illustrate the multisystemic character of desmin myopathy, which in this instance first adds intestinal smooth muscle involvement to its already known skeletal and cardiac muscle manifestations. The additional presence of neurofilament aggregates in the spinal cord and roots constitutes an extremely rare conjunction of intermediate filament pathology of the neuromuscular system.

This study describes small bowel push enteroscopy in routine clinical practice, using a purpose designed instrument (Olympus SIF-10). Fifty six patients had a total of 60 procedures over a two and a half year period. The median (range) depth of small intestine intubated was 45 (15-90) cm. Procedure time varied from 10-45 minutes. Most enteroscopies were performed during routine gastroscopy lists. The technique was comparatively easy for experienced endoscopists to learn. Forty two procedures were for diagnostic purposes. Eleven patients had gastrointestinal bleeding where the source was obscure, or where early investigations had suggested a small bowel source: a specific diagnosis was made in 45% of these cases. Of seven iron deficient anaemic patients using non-steroidal anti-inflammatory drugs (NSAIDs), only one had a lesion detected in the upper small bowel. Nine patients had abnormal small bowel barium studies. Small bowel abnormalities were seen in six cases and were definitively diagnostic in three of these; in three patients the barium study appearances were confirmed as artefact. Fifteen patients were investigated for abdominal symptoms suggesting small bowel obstruction or malabsorption: a diagnosis was made in five cases. Fifteen patients underwent enteroscopy for therapeutic purposes, including successful treatment of difficult enteral feeding problems by nasojejunal tubes or by cutaneous endoscopic jejunostomies, polypectomy for Peutz-Jeghers syndrome, and dilatation of strictures. Additionally, bleeding lesions detected in patients during investigation of anaemia were successfully treated at the time by YAG laser or bipolar diathermy. In conclusion, push enteroscopy is a practical and valuable clinical service, which should probably become available on a subregional basis.

A 47-year-old man with a flat jejunal mucosa complicated by malabsorption, diarrhoea and lymphocytic colitis is presented. There was no response to gluten withdrawal alone, combination of a gluten-free diet and prednisone therapy, or total parenteral nutrition. Complete clinical remission was only achieved after simultaneous treatment with cyclosporine and a gluten-free diet. Rechallenge with a gluten-containing diet while cyclosporine treatment continued resulted in a relapse of diarrhoea and malabsorption. We conclude that cyclosporine may be an effective agent for the treatment of undefined, refractory forms of malabsorption.

We describe two siblings with fat malabsorption and jejunal chylomicron retention. Plasma lipoproteins were studied in the patients and their first-degree relatives. The patients were a 14-year-old girl and her 8-year-old brother. Compared to healthy controls, they both had low fasting plasma concentrations of plasma total, HDL, and LDL cholesterol, as well as of apolipoproteins A-I and B. No increase in plasma lipoprotein levels or detectable apo B-48 was observed following an oral fat load. Histological studies of jejunal biopsy specimens obtained during fasting and 1 h postprandially showed severe steatosis, and an apparent block of chylomicron secretion from the endoplasmic reticulum into the Golgi apparatus was observed by electron microscopy. Liver biopsy specimens showed moderate steatosis and ultrastructural changes similar to those in the enterocytes. One healthy sister had a normal plasma lipoprotein pattern, and showed increased plasma triglyceride levels as well as the presence of apo B-48 following an oral fat load. Both parents had normal plasma total cholesterol levels, but clearly reduced fasting concentrations of HDL cholesterol and apo A-I. At least in this family, determination of plasma apo A-I levels might thus prove useful in the identification of heterozygotes.

We report on a 28 year old Turkish woman, who was admitted to our hospital with the symptoms of malabsorption and protein-loosing enteropathy. Histologically, on duodenal biopsy, a lymphoplasmacellular infiltration of the submucosa with partial to subtotal atrophy of the villi was found. An immunoproliferative small intestinal disease (IPSID) was diagnosed. A short remission whilst on a glutenfree diet and tetracycline therapy, was followed by a laparatomy because of ileus in the small intestine. A high-grade-malignant Non-Hodgkin's Lymphome of B-cell type with intracellular production of alpha-Heavy-Chains (AHCD) was diagnosed histologically. Following chemotherapy with CEOP-IMVP-Dexa (Cyclophosphamide, Epidoxorubicin, Vincristine, Prednisolone, Ifosfamide, VP-16, Dexamethason, Methotrexat) the patient is still in complete remission three years after starting the therapy. We discuss here a case of AHCD in IPSID, the differential diagnosis of protein losing enteropathy and malabsorption, and we also present conservative (diet, medical treatment) and operative therapies.

A 35-year-old German woman presented after a three month journey to Sudan with intermittent, persistent watery diarrhea. Stool examination identified Giardia lamblia. The patient was unsuccessfully orally treated with metronidazol 250 mg three times a day for seven days and tinidazol 2 g as single dose. During a two week hospitalization we observed a total villous atrophy in a duodenal biopsy specimen in absence of celiac sprue or a immunodeficiency syndrome. We treated with metronidazol 500 mg three times a day intravenously and discharged the patient in good condition. This case report shows the variability of clinical presentation of infection with Giardia lamblia. Moreover, we demonstrate rarely found histological changes as reason for clinical presentation, unsuccessful oral treatment and malabsorption. The intravenous therapy lead to a permanent eradication of Giardia lamblia.

Thirty-six patients with Imerslund-Gräsbeck syndrome are presented. The mean ages at presentation and diagnosis were 4.7 +/- 3.7 years and 7.2 +/- 4.2 years, respectively. The mean hemoglobin level was 5.8 +/- 2.2 g/dL, the mean cell volume was 104.9 +/- 11.6 fL, the white blood cell count was 4479 +/- 2022/mm3, and the serum vitamin B12 level was 96.9 +/- 73 pg/mL. At diagnosis, 5 of the 36 patients, aged 5 to 16 years, had neurologic symptoms. All the patients had severe megaloblastic changes in bone marrow precursor cells. Proteinuria was detected in 78% of them. Patients with proteinuria had a younger age of onset (P < 0.0001) and diagnosis (P < 0.001) compared with those without proteinuria. In all patients, vitamin B12 excretion unbound to intrinsic factor after a flushing dose of vitamin B12 was lower than normal, and there was no appreciable correction in urinary vitamin B12 excretion after binding of intrinsic factor. The impairment of vitamin B12 absorption studies in Schilling tests; however, showed great variation among patients. Serum haptoglobin values were close to zero in all patients, indicating the presence of that intravascular hemolysis in Imerslund-Gräsbeck syndrome. Variations among patients in the age of presentation, degree of impairment of vitamin B12 absorption, and presence or absence of proteinuria suggest a heterogeneity in etiology of Imerslund-Gräsbeck syndrome at the molecular level.

Rare instances of symptomatic fat malabsorption have been reported in patients with heterozygous hypobetalipoproteinemia, but with an unclear pathogenesis. An 8-month-old boy with chronic diarrhea and failure to thrive was found to have abnormally low plasma total cholesterol (85 mg/dl), LDL-cholesterol (48 mg/dl), apoB (52 mg/dl), apoA-I (53 mg/dl), and vitamin E (0.22 mg/dl). Decreased plasma LDL-C and apoB were noted in the father (34 and 40 mg/dl, respectively), as well as several other family members. Fasting triglycerides were normal but did not increase normally in response to a fat meal test. Lipoprotein composition showed an abnormal profile of very low density (VLDL, d 1.006 g/ml), low density (LDL, d 1.063 g/ml), and high density (HDL, d 1.21 g/ml) lipoproteins. A fasting jejunal biopsy revealed lipid-laden enterocytes. Electron microscopy of the jejunal biopsy revealed the absence of lipid particles in the intercellular spaces after a fat meal. Jejunal explants cultured with [14C]palmitate and [3H]leucine showed limited synthesis of triglycerides and apolipoproteins (36 and 42% of controls, respectively), whereas the father's results were close to normal. At 1 year of age, improvement in intestinal fat absorption was accompanied by the presence of chylomicrons in the intercellular space, concomitant with the enhanced synthesis of lipids and apoB by jejunal explants. These data provide evidence that heterozygous hypobetalipoproteinemia may present early in life as transient, symptomatic lipid malabsorption. The mechanisms responsible for improved lipid transport despite persistent hypobetalipoproteinemia remain to be established.

Idiopathic hypereosinophilic syndrome (IHES) is a multi-system disorder of unknown origin with eosinophilic infiltration of bone marrow and various organs, including the gastrointestinal tract. Involvement of the heart has a poor prognosis. The etiology of eosinophilic gastroenteritis (EGE) also is unclear. In this disease there is exclusive involvement of the gastrointestinal tract (including liver/bile ducts) and prognosis usually is good. Transition from one disease to the other has not yet been described. We report the 20 years' history of a male patient with an initial IHES without gastrointestinal symptoms and transition to a clinically pure EGE with resolution of any other involvement. At the age of 45 years the patient developed IHES with fever and constitutional symptoms. Fluctuating eosinophilia and symptoms necessitated continuous steroid therapy. After a 10 years' disease course watery diarrhea and malabsorption syndrome became more and more prominent. On the other hand, bone marrow eosinophilia regressed completely and blood eosinophilia partially. Biopsies showed a severe EGE of the mucosal type with involvement of the whole gastrointestinal tract. Besides the prominent eosinophilia there was a dense infiltration of the intestinal mucosa with T-lymphocytes invading the epithelium. We postulate that the destructive eosinophilic/lymphocytic inflammation is caused by a pathologic proliferation of T-lymphocytes with liberation of type 2 helper cell cytokines and consecutive stimulation of eosinophils.