Gaucher's disease: report of 4 cases.
No Thumbnail Available
Date
2007-10-01
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Review of records for last 5 years has shown 4 cases of Type I Gaucher's disease in our institute. The cases were diagnosed on bone marrow aspiration, examination of splenectomy specimen, liver biopsy and post mortem in one case. The age range was 2 years to 22 years. Male to female ratio was 3:1.Splenectomy was performed in one case and one case received enzyme replacement therapy with high dose, low frequency regimen for six months without any favorable effect. All were Hindus. Family history of similarly affected and treated twin brother was available in one case. The predominant clinical presentation was pancytopenia and splenohepatomegaly with splenomegaly greater than hepatomegaly. Remarkable constitutional inferiority was noted in one case, which succumbed to death following acute illness and bleeding diathesis. Post mortem performed showed infiltration of spleen and liver with Gaucher cells, fibrosis and myeloid metaplasia in liver and lung.
Description
Keywords
Citation
Jadhav MV, Landge MP, Surana S, Sawaimoon SK. Gaucher's disease: report of 4 cases. Indian Journal of Pathology & Microbiology. 2007 Oct; 50(4): 766-8