Lipid Storage Diseases- A Clinico-haematological Study

Abstract

Background: To study the clinico- haematologicalprofile of lipid storage disorders in pediatric age group onbone marrow examination.Methods: In this descriptive study, clinicohaematologicalprofile of patients with lipid storagediseases in 1147 patients who underwent bone marrowexamination, was studied.Results: A total number of 20 cases of lipid storagedisease were diagnosed. The mean age was 2 yrs.Thirteen(69%) were male , with a male to female ratio of2.2:1. Ten (50%) cases presented with severe symptoms.Hepatosplenomegaly was present in majority(75%).Failure to thrive was the commonest clinical presentation.Pancytopenia was seen in 80%.Conclusion: Niemann-Pick disease 65%) was thecommonest, followed by Gaucher’s Disease (35%)