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 fatsoluble vitamins, acanthocytosis and a mild incrase 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 of 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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Higuchi, I., Yamano, T., Kuriyama, M. et al. Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia. Acta Neuropathol 86, 529–531 (1993). https://doi.org/10.1007/BF00228592
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DOI: https://doi.org/10.1007/BF00228592