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CASE REPORT: Rupture of a gastric varix in liver cirrhosis associated with glycogen storage disease type III
Author(s) -
HASHIMOTO MASAJI,
WATANABE GORO,
YOKOYAMA TSUYOSHI,
TSUTSUMI KENJI,
DOHI TAKEHIKO,
MATSUDA MASAMICHI,
OKUBO MINORU,
NAKAMURA NORIMASA,
TSURUMARU MASAHIKO
Publication year - 1998
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.1998.tb00643.x
Subject(s) - medicine , cirrhosis , varix , glycogen storage disease , gastric varices , gastroenterology , disease , portal hypertension
Glycogen storage disease type III, or Cori's disease, is caused by a deficiency of amylo‐1,6‐glucosidase (debranching enzyme), which leads to the storage of an abnormal glycogen in the liver and in skeletal and heart muscle. Glycogen storage disease type III is usually characterized by hepatic symptoms, growth failure and myopathy. Even though liver cirrhosis is reported, portal hypertension is a rare complication of this disease. We describe the case of a glycogen storage disease type III patient who was diagnosed at 3 years of age and developed complications (liver cirrhosis and rupture of a gastric varix) at 31 years of age. We discuss the histological progression to cirrhosis of the liver and describe the liver enzyme profile at 3 and 31 years of age.