Cases reported "Malabsorption Syndromes"

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1/17. Colonic granulometry in the malabsorption syndromes.

    After transit through the small intestine barium enters the large intestine and its characteristics in that gut segment can be studied. The pattern of distribution of barium in the colon is always altered in patients with malabsorption syndromes. The physical basis for this alteration is analysed in a manner analagous to that used in soil mechanics. The dispersal of barium granules within the liquid-solid content of the colon is related to certain factors among which is the polarisation and electrical potential of barium particles. A technique using four radiographs which permits evaluation of barium dispersal in the colon - colonic granulometry - is described. Lastly, the authors point out the necessity of classical barium studies in identifying the rare anatomical anomalies that can be the starting point of a typical clinical coeliac syndrome.
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2/17. Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Grasbeck syndrome.

    Two Imerslund-Grasbeck patients who presented with recurrent urinary tract infections and genitourinary abnormalities are described. The patients were evaluated with abdominal ultrasounds, voiding cystourethrograms, and Schilling tests. Each patient had large postvoid residual urine secondary to a motor-neurogenic bladder. One had a duplication of the distal urethra manifesting as two meatal openings. There was lack of urinary excretion of radioactive vitamin B12 on Schilling tests in both patients. patients with Imerslund-Grasbeck syndrome may be predisposed to urinary tract infections because of incomplete bladder emptying. Complete physical and radiological examinations of the genitourinary tract should be performed.
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3/17. lysine malabsorption syndrome: a new type of transport defect.

    A 21-month-old girl with physical and mental retardation is described. She excreted an increased amount of lysine in urine but no excessive quantities of arginine, ornithine, or cystine. serum level of lysine was found to be low but the levels of the other amino acids were within normal limits. The endogenous renal clearance rates of amino acids showed a marked high value of lysine and normal values of the other dibasic amino acids. Oral loading test of amino acids revealed an imparied absorption of lysine and normal absorption of arginine, ornithine, and cystine in the intestine. These results indicate a specific defect in transport of lysine in the intestine as well as in the renal tubule.
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4/17. Congenital hypomagnesemia: alternatives to tissue biopsies for monitoring body magnesium status.

    We have been monitoring a 12-year-old boy (his present age) suffering from selective magnesium (Mg) malabsorption. After ascertaining his Mg status, we attempted to maintain Mg balance through the use of oral supplements. plasma and erythrocyte Mg concentrations were monitored at bimonthly intervals. However these measurements did not accurately reflect Mg status and we subsequently measured Mg in the following tissues: lymphocyte, tooth, and hair. Levels of Mg in stable tissues such as temporary teeth and lymphocytes, unfailingly revealed a marked deficit in Mg that was only two-thirds of the normal levels found in the control group. The use of these readily-accessible stable tissues can thus obviate the need for muscle or bone biopsy. Unfortunately the level in hair is higher than in healthy subjects, and thus does not constitute an adequate measure of Mg status.
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5/17. Neonatal seizures and familial hypomagnesemia with secondary hypocalcemia.

    This report describes two female siblings suffering from hypomagnesemia with secondary hypocalcemia, diagnosed at the third and fifth week of age. They both presented with recurrent generalized convulsions. Because their serum calcium levels were low at the early stage, the diagnosis of late-onset neonatal hypocalcemia was mistakenly made. Their seizures did not respond to parenteral calcium initially, but were completely terminated after the administration of magnesium. The possible cause of hypomagnesemia in these two patients was the selective defect of magnesium absorption in the small intestine. Both patients continued to receive daily supplement of magnesium orally to the last follow-up appointment at the ages of 23 and 12 years, respectively. Despite having several generalized seizures before the correct diagnosis and proper treatment, normal physical and mental development was achieved in both patients.
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6/17. Severe selective magnesium malabsorption: tests of tolerance of oral magnesium supplements.

    Since his birth, we have been monitoring a 12-year-old boy suffering from selective severe magnesium malabsorption. Our essential problem is to prepare a form of galena with acceptable taste, tolerated by the digestive tract and well absorbed; also, the carrier compound must not cause short- or long-term side effects. An additional factor is the steadily increasing need for magnesium from 1 mmol/kg.d at 1 year to 14 mmol/kg.d at present age (345 mg/kg.d). The galena forms currently on sale were, with the exception of lactate and pyrollidone carboxylate, immediately rejected since they contain insufficient Mg2 . Following short trials resulting in diarrhoea, the other two preparations were also rejected. We then constituted - and also abandoned - our own galena compounds: aspartate (bitterness), aspartate glycerophosphate (GLP) (bitterness), glutamate GLP ('Chinese restaurant syndrome' and fear of the long term toxic effect of the glutamate), gluconate (excessive volume: 11/1 proportion with Mg2 ). A recent test featuring GLP of Mg 40 g cocoa butter 40 g cocoa 10 g, brought about vomiting and diarrhoea, and was not adequately absorbed. The best tolerated formula is: Mg GLP 21.33 g; saccharose 6 g; aspartam 1 g; gelatin 0.5 g; citric acid, conserving agent, fruity aroma; water: qs 100 g. Such composition yields a caramel cream absorbed in five small portions, at a daily quantity of 375 g (80 g GLP Mg, 10 g Mg2 ). Vitamin B6, which promotes intestinal absorption of magnesium, must be given separately in tablet form at a dose of 1 g/d, since it causes nausea if it is included in the Mg preparation.(ABSTRACT TRUNCATED AT 250 WORDS)
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7/17. Diagnostic approach to the patient with a chronic diarrheal disorder.

    Chronic diarrhea is a common problem facing the practitioner of medicine. Despite impressive advances in diagnostic technology, many patients continue to have chronic diarrhea without a firm diagnosis being established. Most important, the history and physical examination are often perfunctory and the patient undergoes a number of contrast and imaging studies, endoscopic procedures, and laboratory investigations which may still be non-diagnostic. In all patients with chronic diarrhea, which I will arbitrarily define as diarrhea that has persisted over at least 2 months, there is a need for a careful orderly approach to the differential diagnosis. In this paper I will detail a method that I have used in evaluating such patients. The method emphasizes a careful history and physical examination, judicious and sequential use of laboratory investigations, contrast studies, and endoscopic procedures, and calls attention to special situations where more detailed investigations are required. I have found that unless I go through this detailed diagnostic approach, I will miss disorders that can be readily diagnosed and, more importantly, such patients may not be given appropriate treatment.
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8/17. Acquired immunodeficiency, malabsorption and lymphoma.

    A 66 year old female with a long history of recurrent pulmonary infection presented with a full-blown malabsorption syndrome. She was found to be suffering from acquired immunodeficiency. She later developed non-Hodgkin's lymphoma of the cervical lymph nodes. The possible relationships between immunodeficiency, malabsorption and lymphoma are discussed.
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9/17. diagnosis of congenital glucose-galactose malabsorption by measuring sugar- and amino acid-evoked potential differences in jejunum in vivo.

    A girl who was clinically suspected of having congenital glucose-galactose malabsorption was investigated for sugar- and amino acid-evoked potential differences in the jejunum in vivo using a jejunal perfusion technique. She was fed an ordinary diet without suffering diarrhea at the time (at age 2) of this study. Her nutritional condition and development were normal. The disaccharidase activities of a biopsy specimen of the jejunal mucosa, which were assayed at 1 year of age when she was not having diarrhea, were normal. Jejunal perfusion of 100-mM solutions of D-glucose or D-maltose evoked no significant change in the electrical potential difference. On the other hand, 100 mM of L-glycine or L-leucine solution evoked a normal increase of the lumen negative potential difference (4.4 mV and 3.6 mV, respectively). Therefore, the patient was diagnosed as having congenital glucose-galactose malabsorption due to a defect of Na-dependent glucose-galactose active transport. These findings indicate that the measurement of sugar- and amino acid-evoked potential differences is a simple and reliable method for the diagnosis of congenital glucose-galactose malabsorption.
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10/17. Well-compensated primary bile acid malabsorption presenting as chronic nonspecific diarrhea.

    Increased fecal bile acid loss and defective in vitro ileal bile acid uptake were demonstrated in an 8-year-old boy with diarrhea starting in the neonatal period. His continuously normal physical development and good nutritional status are in keeping with a well-preserved cholic acid pool and normal duodenal bile acid concentration. Isolated bile acid malabsorption can remain well compensated and present as the chronic nonspecific diarrhea syndrome of childhood.
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