당원 축적증 (Glycogenosis) -1예 보고 및 문헌고찰-
Glycogenosis -Report of a case-
소속 상세정보
최원희/Won Hee Choi
권태정/박찬일/이유복/김명진/정기섭/Tai Jnng Kwon/Chan Il Park/Yoo Bock Lee/Myung Jin Kim/Ki Sup Chung
KMID : 0357919820160040875
Abstract
With knowledge of the clinical presentation, the response of blood sugar level to
intravenous injection of glucagon or epinephrine, and the light and electron microscopic
findings of liver and skeletal muscle, a presumptive diagnosis can be made in most of
the glycogenosis.
We have experienced a case of type I glycogenosis in a 13-year-old male patient, who
presented severe hepatosplenomegly, hypoglycemia, hyperlipidemia and hyperuricemia
without any skeletal abnormalities.
The hypoglycemia after 24 hour-fasting failed to respond to glucagon or epinephrine
tests. The liver cells were swollen apparently due to accumulation of large amount of
glycogen which was confirmed by PAS, diastase-PAS and Best's carmine stains, and
fatty metamorphosis. Nuclear glycogenation was present in periportal hepatocytes. Portal
or septal fibrosis wart not noted. The electron microscopy of the liver clearly
demonstrated uniform increase of normal glycogen particles with displacement of other
intracellular organelles, numerous lipid droplets and nuclear glycogenation.
With these findings one can make a presumptive diagnosis of type I glycogenosis until
ultimate chemical proof of glucose-6-phosphatase deficit.
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