Browsing by Author "Duffield, M"

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    The clinical and pathological features of hereditary mixed polyposis syndrome: report on a South African family
    (Health and Medical Publishing Group, 2008) Algar, U; Duffield, M; Goldberg, P A; Ramesar, R; Vorster, A; Ibirogba, S B
    Background: Hereditary mixed polyposis syndrome is characterised by multiple large-bowel polyps of differing histological types including a mixture of atypical juvenile polyps, hyperplastic polyps and adenomas. Affected individuals are thought to have an increased risk of malignancy, possibly via the juvenile polyposis pathway. Methods: A 51-year-old woman (with a history of a colectomy for polyps during childhood) presented with rectal bleeding. Endoscopy demonstrated small rectal polyps which were hyperplastic on histology. A family tree was drawn up and the three children of the proband underwent flexible sigmoidoscopy. Results: Endoscopic surveillance of the three children revealed one who had a similar phenotype to the mother. This child underwent colectomy and ileorectal anastomosis. The pathological specimen revealed more than 70 polyps, with a combination of juvenile retention, hyperplastic, adenomatous and inflammatory polyps. A second child had multiple small hyperplastic polyps, and the third had a normal colon. Although the gene locus for the disorder has been mapped, neither the gene nor the disease-causing mutation has been defined. Conclusion: A rare inherited polyposis syndrome has been identified in a South African family. Where clinical suspicion of a possible inherited condition exists, investigating at-risk first-degree relatives confirms the inherited nature of the disease. It is possible to use genetic haplotyping (i.e. with a range of markers in the area of the gene) to provide statistical risk to immediate relatives and therefore those at highest risk.
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    Vocal cord paralysis secondary to multinodular goitre
    (Health and Medical Publishing Group, 2006) Mulwafu, W; Panieri, E; Garb, M; Duffield, M
    A 71-year-old man was referred to the ear, nose and throat (ENT) department from the neurology department for evaluation of dizzy spells experienced over 6 years. He had multiple medical problems that included ischaemic heart disease, myelodysplasia, hypertension and diabetes mellitus. He also reported a recent onset of hoarseness of voice.