Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis.

@article{Carln2001DiagnosticVO,
  title={Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis.},
  author={Birgitta Carl{\'e}n and Elisabet Englund},
  journal={Ultrastructural pathology},
  year={2001},
  volume={25 4},
  pages={285-8}
}
Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and… CONTINUE READING