A case from 🇺🇿Uzbekistan: a child was diagnosed with a rare lipid storage disorder — Niemann-Pick Disease.
The patient is 4 years old. Growth and developmental delay, splenomegaly, neurological disorders, and heart and lung dysfunction are observed. Niemann-Pick cells were found during bone marrow examination (in the images).
Niemann-Pick disease is a rare hereditary disease from the group of sphingolipidoses. Its cause is the accumulation of sphingomyelin and other lipids in the body’s cells due to a deficiency of the sphingomyelinase enzyme.
The image was kindly provided by Zebiniso Kholmuradova, morphologist, 🇺🇿 Uzbekistan, Kashkadarya Multidisciplinary Children’s Medical Center.
