|
KMID : 0384119940140030264
|
|
Korean Journal of Clinical Pathology
1994 Volume.14 No. 3 p.264 ~ p.271
|
|
|
Acute Neuropathic Gaucher's Disease(A Case of Report)
|
|
윤혜령
최성숙/김은영/김진주/김순기
|
|
|
Abstract
|
|
|
Gaucher's disease is an autosomal inherited disorder of sphingolipid storage which results from the deficiency of the lysosomal enzyme β-glucosidase. The relative rarity of the type 2(acute neuropathic) Gaucher's disease, one of the three types
of
the
disorder, prompted this report of a case. We experienced a case of acute neuropathic type of Gaucher's disease in a one year and five month old female who showed hepatosplenomegaly, bone lesions and neurologic manifestations such as developmental
delay,
seizure, convergent strabismus, hyperreflexia, and respiratory difficulty. We identified characteristic Gaucher cells in the bone marrow and confirmed this disorder by demonstration of deficiency of β-glucosidase activity in peripheral blood
leukocytes. We report type 2 Guacher's disease with a brief review of literature.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|