Letter to the Editor

Niemann-Pick Disease Type B Presenting with Hepatosplenomegaly and Thrombocytopenia

Authors: Ebru Uz, MD, Handan Cipil, MD, Faruk H. Turgut, MD, Arif Kaya, MD, Ayse Kargili, MD, Nüket Bavbek, MD, Akcay Ali, Assoc Prof, Kosar Ali, Prof


To the Editor:

Niemann-Pick disease (NPD) comprises an autosomal recessively inherited group of congenital lipidoses in which sphingolipids accumulate in cells. NPD is a clinically and biochemically heterogeneous disorder, with four variants. Type A and B have a generalized sphingomyelinase deficiency, whereas groups C and D have normal sphingomyelinase levels.1

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1.Ory DS. Niemann-Pick type C: a disorder of cellular cholesterol trafficking. Biochim Biophys Acta 2000;1529(1–3):331–339.
2.Crocker AC, Farber S. Niemann–Pick disease: a review of 18 patients. Medicine 1958;37:1–95.
3.Elleder M, Smid F, Hyniova H, et al. Liver findings in Niemann-Pick disease type C. Histochem J 1984;16:1147–1170.