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  • Title: Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia.
    Author: Higuchi I, Yamano T, Kuriyama M, Niina K, Nakase M, Umemoto M, Take H, Osame M.
    Journal: Acta Neuropathol; 1993; 86(5):529-31. PubMed ID: 8310805.
    Abstract:
    Pathological examination was carried out of the skeletal muscle of an 8-year-old boy with abetalipoproteinemia. The patient complained of diarrhea, and showed a deficiency of betalipoprotein, decreased fat-soluble vitamins, acanthocytosis and a mild increase in serum creatine kinase. The prominent histochemical finding was punctate deposits of acid phosphatase activity in most fibers. Ultrastructural lesions revealed a number of giant lysosomes. Although these pathological findings seemed to be related to vitamin E deficiency, other pathological findings such as concentric laminated bodies or filamentous bodies were also observed. The clinical course and the changes in the pathological findings in our patient after long-term vitamin E therapy need to be observed.
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