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Updated: May 12, 2026

A Piglet Model of Neonatal Hypoxic-Ischemic Encephalopathy
Published on: May 16, 2015
Case report on an infant presenting with hypoglycemia, and milky serum
Yogesh Kumar Gupta1, Anushre Prasad, Pushpa Kini
1Department of Paediatrics, Kasturba Medical College, Manipal University, Manipal, India-576104.
Insights
Glycogen storage disease type I can mimic sepsis in infants. Early diagnosis is crucial, prompted by hepatomegaly, hypoglycemia, and abnormal lipid profiles in infants.
Area of Science:
- Biochemistry
- Pediatrics
- Metabolic Disorders
Background:
- Infants with glycogen storage disease type I may present with symptoms resembling sepsis.
- Clinical presentation can include hepatomegaly, hypoglycemia, and characteristic lipid abnormalities.
Abstract:
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 (3 168 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.
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