Cases reported "Celiac Disease"

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1/8. 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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2/8. The co-existence of Fabry and celiac diseases: a case report.

    We present a patient with fabry disease with remarkable diagnostic findings and gluten-sensitive enteropathy. An 11-year-old girl was admitted to hospital with weight loss, anorexia, nausea, vomiting, flank pain, acroparesthesia, and painful extremities. Her mother had end-stage renal failure secondary to fabry disease. On physical examination, she had growth retardation. Ophthalmological examination showed characteristic whorl-like corneal opacities and fabry disease was confirmed with low alpha-galactosidase A (alpha-gal A) activity. Her painful attacks were treated with carbamazepine, but vomiting and nausea continued. Laboratory studies revealed positive serum anti-endomysium and anti-gliadin antibodies. Small intestinal biopsy showed subtotal villous atrophy compatible with gluten-sensitive enteropathy. Following treatment with a gluten-free diet, her gastrointestinal symptoms completely disappeared within a few weeks and then she had catch-up growth. In her long-term follow-up, proteinuria appeared and renal involvement was confirmed by characteristic renal biopsy findings. Following these clinicopathological findings, enzyme replacement therapy was started. In conclusion, although heterozygous females can be asymptomatic or are expected to have a mild course of the disease, a severe clinical course in our patient in the 2nd decade is of particular interest. In addition, fabry disease occurring with gluten-sensitive enteropathy, a very rare co-existence, is emphasized.
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keywords = physical examination, physical
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3/8. eating disorders and celiac disease: a case report.

    OBJECTIVE: Although chronic physical illness may be associated coincidentally with an eating disorder, some clinicians may overlook the possibility that another medical illness may coexist and contribute concurrently to symptoms such as peculiar eating behaviors, restrictive eating, and/or vomiting accompanied by body dissatisfaction. We present a 31-year-old single woman initially diagnosed with an atypical eating disorder. METHOD: After a gastroenterology consultation prompted by the atypical characteristics of her eating disturbance, the diagnosis of celiac disease was established. RESULTS: Cause-and-effect relationships between anorexia nervosa and celiac disease are unclear, and celiac disease may lead to confusion in the differential diagnosis of anorexia nervosa. CONCLUSION: Particularly in atypical cases, and in cases where nausea and bloating are prominent complaints, workup for celiac sprue may reveal the presence of this condition. In such instances, patients may achieve additional relief through the implementation of gluten-free diets.
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4/8. Intestinal lymphangiectasia masquerading as coeliac disease.

    Intestinal lymphangiectasia (IL) usually presents with either non-specific general or gastro-intestinal symptoms. As IL may mimic other gastro-intestinal disorders, the diagnosis is often delayed. Intestinal lymphangiectasia was diagnosed in three children who were originally treated as cases of coeliac disease. Two were sisters who had been placed on a gluten-free diet, for 3 years in one and 10 years in the other, with no favourable response. The third patient had been tried on various formulae and underwent many investigations for failure to thrive, oedema, abdominal distension and recurrent chest infections. The diagnosis of IL was based on clinical history, physical examination and radiological and histological findings. The three patients were commenced on a medium-chain triglyceride-based diet and vitamins, with satisfactory results.
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keywords = physical examination, physical
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5/8. Coeliac disease in monozygotic twin girls. Synchronous presentation.

    A pair of monozygotic twin girls with coeliac disease is reported. The diagnosis was made on clinical and biochemical evidence of malabsorption, characteristic histological findings, and clinical, biochemical, and histological response to gluten elimination. Monozygosity was established on finding a single placenta at birth, exact similarity of physical appearance, similar blood group, and histocompatibility antigens, and negative reaction in mixed lymphocyte culture. This is one of six well documented cases of coeliac disease in monozygotic twins and may throw light on the importance of genetic and environmental factors in the causation and expression of the disease.
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6/8. "Pseudoascites" as a presenting physical sign of celiac disease.

    Two children initially referred for evaluation of ascites were diagnosed as suffering from celiac disease. Positive physical signs of ascites were present in the absence of free fluid in the peritioneal cavity. Physical findings of ascites were caused solely by dilated small intestinal loops filled with copious fluid. "Pseudoascites" should be recognized as a physical sign and possible mode of presentation of celiac disease.
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7/8. Biochemical victims: false negative diagnosis through overreliance on laboratory results--a personal report.

    The increasing tendency of doctors to base diagnosis on the results of laboratory investigations entails a corresponding decrease in the exercise of clinical judgment. This state of affairs can have harmful consequences for patients suffering from biochemically atypical forms of disorder, who may acquire functional psychiatric labels when they are in fact suffering from organic physical disorders. The author's personal experience of this invidious predicament is described. Although hypothyroidism was correctly diagnosed on clinical grounds within a few months of presentation, laboratory results were inconclusive and three years and three specialist consultations were to elapse before replacement therapy was obtained, and then only through unofficial channels. The handling of this case illustrates some unfortunate trends in contemporary medical practice with important implications for the health of patients.
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8/8. A systematic approach to macrocytosis. Sorting out the causes.

    Because of the widespread use of multiparameter hematology instruments, physicians are often presented with patients who have macrocytosis with no obvious cause. Depending on the demographics of an individual practice, folate and vitamin B12 deficiencies may be relatively rare causes of macrocytosis, compared with alcoholism, liver disease, drugs, or myelodysplasia. Initial evaluation should include a carefully taken history and physical examination along with a complete hematologic profile, reticulocyte count, and peripheral blood smear. This initial evaluation should allow systematic consideration of the possible causes. serum B12 and red cell folate determinations and other studies may then be undertaken as appropriate.
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keywords = physical examination, physical
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