Case report on an infant presenting with hypoglycemia,and milky serum

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 gl...

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Bibliographic Details
Published in:Asian Pacific journal of tropical biomedicine 2012-04, Vol.2 (4), p.331-332
Main Authors: Gupta, Yogesh Kumar, Prasad, Anushre, Kini, Pushpa, Naik, Prashant, Choprra, Deepti, Prabhu, Krishnananda
Format: Article
Language:English
Subjects:
Case Report
disorder
Fatal Outcome
Glycogen
Glycogen storage disorder type I
Hepatomegaly
Humans
Hypertriglyceridemia
Hypoglycemia
Infant
Male
Milky
Milky serum
Seizures
serum
storage
type
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Summary: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.
ISSN:2221-1691
2588-9222
DOI:10.1016/S2221-1691(12)60033-1