Nervous system involvement in type IV glycogenosis

Arch Pathol Lab Med. 1979 Mar;103(3):105-11.


A 30-month-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 second patient in whom the fine structure of the CNS and skeletal muscle has been described. We have also identified the abnormal polysaccharide in peripheral nerve, a finding that, to our knowledge, has not been reported previously. Our 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 has been directed toward the nervous system. This emphasizes the need for more detailed neurologic and neuropathologic examinations of children with type IV glycogenosis.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Age Factors
  • Brain / pathology
  • Brain / ultrastructure
  • Central Nervous System Diseases / etiology
  • Central Nervous System Diseases / metabolism
  • Central Nervous System Diseases / pathology
  • Cerebellum / pathology
  • Cerebellum / ultrastructure
  • Cerebral Cortex / pathology
  • Ependyma / pathology
  • Female
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease Type IV / complications*
  • Glycogen Storage Disease Type IV / metabolism
  • Glycogen Storage Disease Type IV / pathology
  • Histocytochemistry
  • Humans
  • Infant
  • Liver / pathology
  • Liver / ultrastructure
  • Muscles / pathology
  • Muscles / ultrastructure
  • Neuromuscular Diseases / etiology*
  • Neuromuscular Diseases / metabolism
  • Neuromuscular Diseases / pathology
  • Peripheral Nerves / pathology
  • Peripheral Nerves / ultrastructure
  • Polysaccharides / metabolism


  • Polysaccharides