Journal of Cytology

CASE REPORT
Year
: 2009  |  Volume : 26  |  Issue : 3  |  Page : 117--119

Gaucher俟Q製 disease with uncommon presentations


Sanjay Sen Gupta1, Palash Mondal2, Nandita Basu2, Mamata Guha Mallick2 
1 Department of Pathology, B C Roy Children's Hospital, Kolkata, India
2 Department of Pathology, Medical College, Kolkata, India

Correspondence Address:
Nandita Basu
111/B, S.P. Mukherjee Road, Kolkata - 700 026
India

Gaucher俟Q製 disease is the most common lysosomal storage disorder gene defect, which leads to deficiency or decreased activity of glucocerebrosidase, followed by accumulation of glucosylceramide. There is autosomal recessive transmission leading to varied clinical manifestations. This disease has three main types: Type I - nonneuronopathic; type II - acute neuronopathic; and type III - chronic neuronopathic. The nonneuronopathic type has the highest prevalence and also the greatest variability. The authors here report two cases of Gaucher俟Q製 disease with uncommon presentations in early childhood, highlighting the importance of early diagnosis of the disease, as now-a-days enzyme replacement therapy may arrest further progress of disease.


How to cite this article:
Gupta SS, Mondal P, Basu N, Mallick MG. Gaucher's disease with uncommon presentations.J Cytol 2009;26:117-119


How to cite this URL:
Gupta SS, Mondal P, Basu N, Mallick MG. Gaucher's disease with uncommon presentations. J Cytol [serial online] 2009 [cited 2022 Dec 9 ];26:117-119
Available from: https://www.jcytol.org/article.asp?issn=0970-9371;year=2009;volume=26;issue=3;spage=117;epage=119;aulast=Gupta;type=0