NERVOUS-SYSTEM INVOLVEMENT IN TYPE-IV GLYCOGENOSIS

  • 1 January 1979
    • journal article
    • research article
    • Vol. 103  (3) , 105-111
Abstract
A 30 mo. old girl exhibited the 19th known case of type IV glycogenosis. Extensive involvement of the nervous system was found at autopsy. This represents only the 2nd patient in whom the fine structure of the CNS and skeletal muscle was described. The abnormal polysaccharide in peripheral nerve was identified for the 1st time. A review of the literature indicates that approximately 50% of these patients exhibit signs or symptoms referable to the neuromuscular system. Most clinical and pathologic studies have focused on the severe liver involvement; insufficient attention was directed toward the nervous system. The need for more detailed neurologic and neuropathologic examinations of children with type IV glycogenosis is emphasized.