How to Cite
1.
Mahwash Rashid, Nasira Shaheen, Muhammad Ashraf, Qaiser Alam Khan, Saba Saqlain, Humaira. Lipid Storage Diseases- A Clinico-haematological Study. JRMC [Internet]. 2012 Dec. 30 [cited 2024 Apr. 24];16(2). Available from: https://journalrmc.com/index.php/JRMC/article/view/561
Abstract
Background: To study the clinico- haematological
profile of lipid storage disorders in pediatric age group on
bone marrow examination.
Methods: In this descriptive study, clinicohaematological
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%).