Cases reported "Malabsorption Syndromes"

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1/96. Through a shade darkly.

    A 43-year-old man complained of difficulty seeing in dim light (nyctalopia). A prolonged photostress test and abnormal electroretinogram confirmed retinal rather than optic nerve dysfunction. vitamin a deficiency secondary to remote ileal-jejunal bypass was diagnosed, and his visual symptoms and signs reversed with oral vitamin A supplementation.
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2/96. 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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3/96. Musculoskeletal manifestations of osteomalacia: report of 26 cases and literature review.

    OBJECTIVE: This study was undertaken to describe the musculoskeletal manifestations in a selected population of 26 patients with biopsy-proven osteomalacia (OM) and provide a literature update. methods: The 26 patients with biopsy-proven OM were selected from a total number of 79 patients who underwent anterior iliac crest biopsy. The diagnosis of OM was confirmed by the presence of an osteoid volume greater than 10%, osteoid width greater than 15 microm, and delayed mineralization assessed by double-tetracycline labeling. RESULTS: OM was caused by intestinal malabsorption in 13 patients, whereas six other patients presented with hypophosphatemia of different causes. Five elderly patients presented with hypovitaminosis D, and in two patients the OM was part of renal osteodystrophy. Twenty-three patients presented with bone pain and diffuse demineralization, whereas three other patients had normal or increased bone density. Characteristic pseudofractures were seen in only seven patients. Six of the 23 patients with diffuse demineralization had an "osteoporotic-like pattern" without pseudofractures. Prominent articular manifestations were seen in seven patients, including a rheumatoid arthritis-like picture in three, osteogenic synovitis in three, and ankylosing spondylitis-like in one. Two other patients were referred to us with the diagnosis of possible metastatic bone disease attributable to polyostotic areas of increased radio nuclide uptake caused by pseudofractures. Six patients also had proximal myopathy, two elderly patients were diagnosed as having polymalgia rheumatica, and two young patients were diagnosed as having fibromyalgia. One of the patients who presented with increased bone density was misdiagnosed as possible fluorosis. CONCLUSION: OM is usually neglected when compared with other metabolic bone diseases and may present with a variety of clinical and radiographic manifestations mimicking other musculoskeletal disorders.
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4/96. Unusual combination of night blindness and optic neuropathy after biliopancreatic bypass.

    night blindness and optic neuropathy were the presenting symptoms of an iatrogenic malabsorption syndrome in a 64-year old female. This case illustrates the necessity of lifelong vitamin supplementation after biliopancreatic bypass for morbid obesity.
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5/96. vitamin a deficiency phrynoderma: due to malabsorption and inadequate diet.

    We describe a patient with vitamin a deficiency phrynoderma caused by a combination of inadequate dietary intake of vitamin A and beta-carotene and malabsorption secondary to primary visceral myopathy and total colectomy.
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6/96. ceroid enteropathy and vitamin e deficiency.

    ceroid (polymerised peroxidised polyunsaturated fatty acids) deposition in the intestine is a result of chronic malabsorption and vitamin e deficiency. This gives the bowel a striking brown colour. Three patients are described with this condition. The macroscopic and microscopic appearances were similar, but the cause of the malabsorption differed. In one patient with polyarteritis there was regression of the pigments with improvement of the malabsorption after treatment with prednisone.
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7/96. osteomalacia that became symptomatic 13 years after a total gastrectomy.

    A 66-year-old man who underwent a total gastrectomy 13 years ago was admitted to our hospital complaining of severe low back pain and muscle weakness. Biochemical examinations revealed hypocalcemia, hypophosphathemia, low serum 25 (OH) vitamin D and hyperparathyroidism. A chest CT scan revealed pseudofractured ribs, whereas plain X-photography did not show any significant findings. We diagnosed the illness as osteomalacia due to malabsorption. The patient has been receiving oral active vitamin d and calcium, and the pain and serum calcium and phosphate values have improved to the point that he can receive out-patient treatment.
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8/96. 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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9/96. Attempts to define the minimal serum level of vitamin A required for normal visual function in a patient with severe fat malabsorption.

    A case with severe malabsorption of fat soluble vitamins is described. The malabsorption developed after an intestinal bypass operation due to morbid obesity. night blindness occurred as the first symptom of vitamin a deficiency. The cone visual sensory threshold was elevated about one log unit and the rod threshold abot two and a half log units. No changes of the a- and b-waves of the electroretinogram (ERG) was observed. However, during the initial phase of very low serum reninol level (0.21 mumol/l) the summed amplitudes of the oscillatory potentials (OPs) were lower. After parenteral therapy with vitamin A the night blindness disappeared and the dark-adapted rod and cone threshold sensitivity recovered to normal. However, the time-course of rod adaptation first reached normal levels after 5 months. The amplitudes of the OPs of the ERG response returned to normal when the serum retinol level had increased close to normal. serum retinol levels of 0.7 mumol/l or higher were always associated with normal or close to normal dark-adapted rod sensitivity. However, a normal serum retinol level (> 0.95 mumol/l) and a normal dark-adapted rod threshold sensitivity were not always associated with a normal time-course of the rod adaptation. It is concluded, that the maintenance dosage of vitamin A must be individualized and that patients who have undergone jejuno-ilea bypass surgery must be carefully monitored for vitamin a deficiency by both serum levels and dark adaptation measurements.
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10/96. 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.
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