Journal of Cytology
Home About us Ahead of print Instructions Submission Subscribe Advertise Contact e-Alerts Login 
Users Online:453
  Print this page  Email this page Small font sizeDefault font sizeIncrease font size
Year : 2009  |  Volume : 26  |  Issue : 3  |  Page : 117-119

Gaucher's disease with uncommon presentations

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
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-9371.59399

Rights and Permissions

Gaucher's 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's 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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded158    
    Comments [Add]    

Recommend this journal