Mahwash Rashid, Nasira Shaheen, Muhammad Ashraf, Qaiser Alam Khan, Saba Saqlain, Humaira.
Lipid storage diseases- a clinico-haematological study.
J Rawal Med Coll Jan ;16(2):109-11.

Background: To study the clinico- haematological profile of lipid storage disorders in pediatric age group on bone marrow examination. Methods: In this descriptive study, clinico-haematological profile of patients with lipid storage diseases in 1147 patients who underwent bone marrow examination, was studied. Results: A total number of 20 cases of lipid storage disease were diagnosed. The mean age was 2 yrs. Thirteen(69%) were male , with a male to female ratio of 2.2:1. 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 the commonest, followed by Gaucher’s Disease (35%).

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