Cases reported "Malabsorption Syndromes"

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1/9. 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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2/9. 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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3/9. 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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4/9. 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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5/9. 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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6/9. 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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7/9. Familial fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.

    Two siblings of Turkish-Assyrian extraction, whose parents were first cousins, had poor appetite, slow weight gain and retarded psychomotor development. When given milk the galactose concentration in blood increased. An oral galactose load showed a markedly reduced capacity to metabolize galactose. fanconi syndrome was present as in classical galactosemia. A galactose-free diet reduced the aminoaciduria but did not normalize the renal tubular function nor the children's general condition. galactokinase and galactose-1-phosphate uridyltransferase activities in red blood cells were normal. The physical appearance of the children (sparse subcutaneous fat, thin extremities and distended abdomen) and the results of vitamin A and xylose absorption tests, were in accordance with a malabsorption condition. glucose, however, seemed to be absorbed normally from the gut. There was no evidence of primary liver disease. Since the condition did not normalize with a galactose-free diet, an enzyme defect of galactose metabolism is unlikely. Instead, a more general transport defect with autosomal recessive inheritance is proposed.
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8/9. night vision in a case of vitamin a deficiency due to malabsorption.

    night vision was tested electroretinographically and psychophysically in a vitamin A deficient patient before and after therapy. vitamin a deficiency resulted from malabsorption due to a jeujunoileal bypass operation. Before therapy the patient had severely reduced cone and rod function. After the reversal operation, accompanied by 5 injections of a total of 500,000 units of vitamin A, complete recovery of cone and rod functions was observed within 7 months. Shortly after therapy rod sensitivity reached the normal level, while the time course of rod adaptation remained slower than normal and the dark-adapted electroretinographic (ERG) responses were subnormal. At later stages the ERG responses reached normal amplitudes but rod adaptation stayed slow. Only after 7 months did night vision reach the normal level with regard to the time course of rod adaptation, rod sensitivity, and ERG responses.
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9/9. Malabsorption syndrome complicating tuberculous peritonitis.

    A 22-year-old Nepali man presented with a 2-month history of fever, ill health, anorexia, loss of weight and diarrhoea. Apart from an ill-defined lower abdominal mass, physical examination was unremarkable. Investigations showed the picture of malabsorption syndrome with no evidence of structural gastro-intestinal tract involvement on barium meal, small bowel and large bowel enema, upper gastro-intestinal endoscopy, colonoscopy and mucous membrane biopsy. laparoscopy showed typical features of tuberculous peritonitis. liver biopsy showed tuberculous granulomatous hepatitis, and peritoneal biopsy showed caseating granulomata. The patient responded rapidly to antituberculosis chemotherapy.
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