title: Histochemical and ultrastructural pathology of skeletal muscle in a patient with abetalipoproteinemia.
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.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: T
authors.initials: T
authors.lastname: Yamano
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
authors.forename: K
authors.initials: K
authors.lastname: Niina
authors.forename: M
authors.initials: M
authors.lastname: Nakase
authors.forename: M
authors.initials: M
authors.lastname: Umemoto
authors.forename: H
authors.initials: H
authors.lastname: Take
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000012:Abetalipoproteinemia / Q000473:pathology*; D002648:Child; D003594:Cytoplasmic Granules / Q000737:chemistry / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008062:Lipofuscin / Q000032:analysis; D008297:Male; D009132:Muscles / Q000737:chemistry* / Q000473:pathology* / Q000648:ultrastructure; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure
chemical_list: D008062:Lipofuscin