Niemann-Pick type C disease

A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal for beta-Glucosidase and sphingomyelinase specific for Gauchers and Niemann Pick type A or B respectively. Further study was carried out on cultured skin fibroblasts in lipid deficient medium using filipin stain which showed presence of dark punctate granules confirming the diagnosis of Neimann-Pick type C, a rare autosomal recessive disorder.