Biomedical subjects
Publications and source records attributed to A D Dick.
Refsum's disease (phytanic acid storage disease) results in an accumulation of lipid as a result of an absence of mitochondrial hydroxylation of phytanic acid. We describe a previously unrecorded electron microscopic study of lipid deposition in the iris pigment epithelium of a patient with Refsum's disease, and lipid was present in other sites within the iris.
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In our sports-oriented society, a knowledgeable family physician can provide total care for the athlete--from the initial screening history and physical examination to the treatment of acute and chronic conditions. A special awareness of injury mechanisms and appropriate treatment methods is required to make sports medicine a rewarding experience for the athlete and the physician.
PURPOSE: To report a case of bilateral serous maculopathy as an initial sign of acute lymphoblastic leukaemia in children. METHODS/RESULTS: A 13-year-old girl, who presented with symptoms of visual blurring, was found to have a bilateral serous maculopathy. Haematological abnormalities (thrombocytopenia with a mild lymphocytosis) prompted further investigation. A bone marrow aspirate revealed the presence of leukemic blasts and a diagnosis of acute lymphoblastic leukaemia was made. Her maculopathy completely resolved following systemic chemotherapy. CONCLUSIONS: Prompt recognition of disease led to early systemic treatment and restoration of visual function.