A case of hepatitis misdiagnosed by speech and hearing in hepatic glycogen deposition disease

  Patient Liu, male, 11 years old. Due to repeated yellowing of sclera and skin and abnormal liver function for 5 years, the child presented at the age of 4 years with yellow sclera and skin with no known cause, yellow urine like strong tea, no fever, abdominal pain, aversion to oil, and fair mental and appetite. Liver function: Tbil 98.2μmol/L, Dbil 54.8μmol/L, ALT 1640U/L, AST 660U/L, GGT 56U/L, bile acid 301.2mmol/L, all tests were negative except HBsAb (+). The liver puncture specimen was pathologically diagnosed by the pathology department of a medical university: intrahepatocellular glycogen deposition with kwashiorkor cell hyperplasia. Fluoroscopic electron microscopy showed extensive glycogen deposition in the hepatocytes with a scattered distribution. The capillary bile ducts were dilated and myelinated with microvilli, and some of the adjacent hepatocytes were open with increased microvilli. The hepatic blood sinusoids showed a high number of Kupffer cells, moderate collagen fibrillation in the interstitial space and between hepatocytes, and common lipid storage cells. A small number of hepatocytes with myelin-like structures were also seen. Conclusion: The ultramicro-pathological changes are consistent with hepatic glycogen deposition disease.  Hepatic glycogen deposition disease (HGSD) is a congenital abnormal glucose metabolism disorder in which excessive glycogen is deposited in the liver, resulting in abnormal hepatic metabolism, and its clinical manifestations often lack specificity and are easily misdiagnosed as viral hepatitis and biliary hepatitis.  In this case, five times in five years, the skin sclera yellow stain, liver function abnormalities, all miscode rate diagnosed as jaundice hepatitis, but repeatedly check hepatitis virus markers, cytomegalovirus, EBV antibodies are negative, autoantibodies negative, reticulocytes normal, no anemia, syphilis antibody negative, can exclude the corresponding disease, but long-term failure to get a clear diagnosis, and finally by the higher hospital liver biopsy confirmed the diagnosis of liver glycogen deposition disease This suggests that if common and multiple diseases cannot be explained, difficult and rare diseases should be considered, and the diagnosis should be made as clear as possible using available medical information.