Atypical cytomorphology of Gaucher cells on splenic aspirate in a rare case of Gaucher’s type 2 disease
Journal Title: INTERNATIONAL JOURNAL OF RECENT TRENDS IN SCIENCE AND TECHNOLOGY - Year 2016, Vol 21, Issue 2
Abstract
Gaucher’s disease (GD) is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme deficiency, resulting in accumulation of glucocerebroside in all organs. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis.1 We present a case of an infant found at 6 months of age with neurological symptoms and subsequent evolution of massive splenomegaly. The child being diagnosed with type 2 GD with atypical gaucher cells(GC’s) on splenic fine needle aspiration cytology (FNAC).
Authors and Affiliations
Umesh S Kanade, Viraj J Sadrani, Shivaji D Birare, Suresh A Chaware, Shruthi V Deshkulakarani
Keywords
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