A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly,hypoglycemia and milky serum.Serum triglycerides were markedly elevated(3168 mg/dL) with cholesterol being 257...A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly,hypoglycemia and milky serum.Serum triglycerides were markedly elevated(3168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low(19 mg/dL).The possibility of glycogen storage disease type Ⅰ was considered in the diagnosis.Infants with glycogen storage disease type Ⅰ may present like sepsis.The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type Ⅰ in the diagnosis.展开更多
基金financially supported by Kasturba Medical College,Manipal,Manipal University
文摘A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly,hypoglycemia and milky serum.Serum triglycerides were markedly elevated(3168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low(19 mg/dL).The possibility of glycogen storage disease type Ⅰ was considered in the diagnosis.Infants with glycogen storage disease type Ⅰ may present like sepsis.The association of hepatomegaly, hypoglycemia and abnormal lipid profile stated above should alert the physician to consider glycogen storage disease type Ⅰ in the diagnosis.
