Cases reported "Malabsorption Syndromes"

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1/10. Imerslund-Grasbeck syndrome in an African patient.

    Imerslund-Grasbeck syndrome (IGS) is a rare cause of megaloblastic anaemia in young children. We wish to report the first case described from africa. The diagnosis of IGS was made on the findings of a low vitamin B12 level, mild proteinuria, and a vitamin B12 absorption test unaffected by the intrinsic factor. The patient responded well to treatment with intramuscular vitamin B12.
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ranking = 1
keywords = anaemia
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2/10. vitamin a deficiency presenting as night blindness during pregnancy.

    We describe a patient with a 6-year history of pancreatic malabsorption following surgical subtotal pancreatectomy. She presented at 33 weeks of pregnancy with night blindness as a result of vitamin a deficiency. She had had two successful pregnancies 9 and 8 years previously, giving birth to a healthy baby boy on each occasion. We suggest that patients with long-term malabsorption due to intestinal or pancreatic disease should have vitamin A status checked prior to and during pregnancy so that prompt supplementation can be commenced if necessary. The possibility that vitamin a deficiency may be contributing to anaemia present in pregnancy should also be considered.
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keywords = anaemia
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3/10. Intestinal bypass syndrome presenting as erythema nodosum.

    Intestinal bypass was a popular surgical procedure for morbid obesity resulting, on average, in a 50 kg weight loss. We describe a 66-year-old woman who underwent the procedure 12 years earlier and subsequently presented with recurrent episodes of erythema nodosum-like lesions. Further investigations revealed hyperoxaluria, renal failure, deficiency of fat-soluble vitamins (causing night blindness, osteomalacia and easy bruising) and anaemia. Antibiotics led to only temporary remission and, as with 24-30% of similar cases, she underwent surgical reversal to prevent the complications from worsening.
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keywords = anaemia
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4/10. Selective vitamin B12 malabsorption without anaemia but with profound failure to thrive.

    A 7-month-old boy presented with vomiting and failure to thrive associated with proteinuria, methylmalonic aciduria and macrocytosis, but without anaemia. plasma vitamin B12 levels were normal by a radio-dilution method. He was treated as an inborn error of metabolism with intramuscular cyanocobalamin and a low protein diet. However when treatment was withdrawn he remained well for 11 months before relapsing with vomiting and weight loss. Re-investigation again showed methylmalonic aciduria, but the haemoglobin was low and plasma vitamin B12 levels by a specific method showed them to be reduced. Studies of vitamin B12 absorption showed the picture of selective malabsorption. He was started on regular cyanocobalamin injections.
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ranking = 5
keywords = anaemia
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5/10. An augmented schilling test in the diagnosis of pernicious anaemia.

    A patient with otherwise typical addisonian pernicious anaemia and serum anti-intrinsic-factor antibody failed to respond to oral intrinsic factor on repeated testing during three years of therapy with parenteral vitamin b 12. There was no evidence of generalised malaborption. To test the hypothesis that binding of intrinsic factor to gut secretory antibody was responsible, an "augmented" schilling test was devised using eight times the usual dose of intrinsic factor. This increased dose of intrinsic factor resulted in normal absorption of the test dose of vitamin b 12 confirming the diagnosis. It is suggested that the augmented schilling test may be useful in the diagnosis of the occasional patient with features of pernicious anaemia who fails to respond to conventional doses of intrinsic factor in the schilling test.
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ranking = 6
keywords = anaemia
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6/10. Malabsorption of protein bound vitamin B12.

    patients with subnormal serum vitamin B12 concentrations were tested for absorption of protein bound vitamin B12 and compared with controls. absorption of the protein bound vitamin appeared to decrease with increasing age in healthy subjects. Differences between the result of this test and the result of the schilling test in patients who had undergone gastric surgery were confirmed; such differences were also seen in some patients who had iron deficiency anaemia, an excessive alcohol intake, or folate deficiency. Defective absorption was also found in six patients with an adequate dietary intake of vitamin B12, normal schilling test results, low serum vitamin concentrations, and tissue changes responding to treatment with vitamin B12. Malabsorption of the vitamin from protein bound sources, which is not detected by the schilling test, may produce vitamin B12 deficiency of clinical importance.
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ranking = 1
keywords = anaemia
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7/10. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

    Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent skin disorder has not been reported in this syndrome before.
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keywords = anaemia
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8/10. Autoimmune polyglandular failure associated with malabsorption and gastric carcinoid tumour.

    A 21-year-old female with autoimmune polyglandular failure (APG) manifested by insulin-dependent diabetes mellitus (IDDM), hypothyroidism and pernicious anaemia developed severe malabsorption due to exocrine pancreatic insufficiency. Supplemental pancreatic enzymes resulted in marked improvement of steatorrhea. There was also an incidental finding of gastric carcinoid tumour. We identified only 13 other patients in our institution with either type 2 or 3 APG, one of which had significant steatorrhoea. Another patient with IDDM, hypothyroidism and pernicious anaemia had an asymptomatic gastric carcinoid tumour. The possible mechanisms for malabsorption in APG are discussed.
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ranking = 2
keywords = anaemia
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9/10. Cobalamin deficiency with megaloblastic anaemia in one patient under long-term omeprazole therapy.

    The first case of cobalamin deficiency with megaloblastic anaemia in a patient under long-term omeprazole therapy is presented. This patient received omeprazole at a daily dose of 40-60 mg for 4 years as treatment for a gastro-oesophagal reflux complicated by peptic oesophagitis. Seric vitamin B12 was dramatically decreased at 80 pmol L-1. The schilling test was normal (13%) with crystalline [57Co] cobalamin and it was at 0% with [57Co] cobalamin-labelled trout meat. All other assimilation tests were normal except an expiratory hydrogen breath test performed with lactulose. The haematological status was restored after intramuscular treatment with cobalamin. In conclusion, prolonged omeprazole therapy can be responsible for a cobalamin deficiency due to protein-bound cobalamin malabsorption.
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ranking = 5
keywords = anaemia
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10/10. hypereosinophilic syndrome presenting with diarrhoea and anaemia in a patient with systemic lupus erythematosus.

    We describe a patient with quiet systemic lupus erythematosus who developed a hypereosinophilic syndrome. The patient presented with gastrointestinal eosinophilia which caused diarrhoea, malabsorption and anaemia due to deficiencies of vitamins. The hypereosiniphilic syndrome completely resolved after treatment with prednisone.
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ranking = 5
keywords = anaemia
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