Conjunctival ultrastructure in Niemann-Pick disease type C.
A 5-year-old girl with Niemann-Pick disease type C had normal eyes but the conjunctival ultrastructure was abnormal. Lamellar cytoplasmic bodies, characteristic of Niemann-Pick disease, were found in epithelial cells, stromal fibroblasts, endothelial cells, and pericytes of the stromal capillaries. The basement membrane of the capillaries was multilayered. The Golgi apparatus was unusually well developed. The combination of ocular findings and conjunctival ultrastructure may be helpful in the differential diagnosis of Niemann-Pick disease and its subtypes.
D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology / Q000648:ultrastructure*; D003241:Consanguinity; D005260:Female; D006056:Golgi Apparatus / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D010641:Phenotype