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Case Reports
. 1999 Oct;62(10):743-7.

Glycogen storage disease type IV: a case report

Y J Chan  1 , S P Lin, B F Chen
Affiliations
  • PMID: 10533307
Case Reports

Glycogen storage disease type IV: a case report

Y J Chan et al. Zhonghua Yi Xue Za Zhi (Taipei). 1999 Oct.

Abstract

Glycogen storage disease type IV (GSD-IV) is a rare autosomal recessive disease caused by a deficiency of glycogen branching enzyme (GBE) activity. This results in the accumulation of abnormal glycogen in the liver and other organs. We report the case of a 14-month-old female patient with typical hepatic pathologic findings of GSD-IV. The patient suffered from decreased muscle tone and progressive hepatosplenomegaly since birth. A wedge biopsy of the liver showed enlarged hepatocytes with colorless to faintly eosinophilic ground glass intracytoplasmic inclusions. Portal fibrosis and lobular, fibrous septa were present. Ultrastructure of the inclusions revealed non-membrane-bound fibrillar material 5 nm in maximal diameter. Enzyme study revealed a total deficiency of GBE activity.

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