Adult Niemann-Pick disease--a case report.
A case is presented of the rare adult form of Niemann-Pick disease occurring in a Cantonese. The diagnosis was verified by biochemical analysis of the affected tissues.
Biomedical subjects
Publications and source records attributed to W C Chan.
A case is presented of the rare adult form of Niemann-Pick disease occurring in a Cantonese. The diagnosis was verified by biochemical analysis of the affected tissues.
Histochemistry to demonstrate cholinergic fibers in rectal suction biopsies is a reliable method to diagnose or exclude Hirschsprung's disease. The histochemical criterion of a positive reaction consists of the presence of many coarse discrete cholinergic fibers in the muscularis mucosae and in the immediately subjacent submucosa, best assessed under medium power with the condenser lowered. A marked increase in cholinergic fibers in the lamina propria is seen only in some cases of Hirschsprung's disease. At least some cases of Hirschsprung's disease may be the result of destruction of ganglion cells by a viral infection in the intrauterine and early postnatal life.
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Age-adjusted mortality from lung cancer rose rapidly in both males and females in Hong Kong from 1960-1972. The relative frequency of epidermoid carcinoma increased in male bronchial biopsies but not in lung biopsies, resections, or autopsies; there was a decline in small-cell anaplastic carcinoma. In both males and females the ratio of Kreyberg Group I (epidermoid and small-cell anaplastic) to Group II (adenocarcinoma and carcinoid) tumours did not increase, despite an 80% rise in mortality from lung cancer. Adenocarcinoma was the most common type in females, despite the high mortality from lung cancer. It is speculated that cigarette smoking might produce a different pattern of histological types among Hong Kong Chinese, or that additional aetiological factors may be operating there.
Five cases of syphilitic aortic aneurysm with erosion of the spinal column are reviewed. Four patients underwent operation. When erosion of the spine was mild or moderate, the aortic lesion only was treated. Aneurysm associated with extensive vertebral erosion was treated in two cases by anterior spinal fusion combined with replacement of the disc and part of the aorta. In one of these cases the spine was later reinforced by a posterior spinal fusion. One patient so treated died a week after operation. The patient who refused operation later developed a complete paraplegia.
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In glaucomatous eyes, contrary to normal eyes, the blind spot size is not correlated with the disc or cup size, and the size of the optic disc, cup and optic rim also varies. The variation in area of the glaucomatous optic disc correlates with variation in area of the optic cup. The rim width and total rim area in glaucomatous eyes are decreased. In glaucoma the upper, lower and nasal rim widths are about the same, whereas the smallest rim width occurs temporally. Thus, clinically cupping in glaucoma eyes need not be vertically oval.
Two patients who developed reversible renal failure during intermittent rifampicin therapy are described. Both had febrile reactions to rifampicin. The first was also found to have uraemia associated with swelling of the glomerular endothelial cells. The second developed tubular necrosis unassociated with haemolysis or shock. The pathogenesis of the renal lesion in these two patients, as revealed by light microscopy, immunofluorescence studies and electron microscopy, is discussed.
Four serial specimens over 18 months from a hepatocellular carcinoma associated with hypoglycaemia were studied by light microscopy. Ultrastructural study was possible for two of the specimens. Progressive fatty metamorphosis of the tumour cells was observed. The mechanism postulated was that of diversion of carbohydrate metabolism to lipogenesis due to enzyme disruption and dextrose infusion. The possibility of a defect in lipid transport was also considered.
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