Neuronal ceroid lipofuscinosis. Diagnosis from peripheral blood smear.
Neuronal ceroid lipofuscinosis (NCL), or Batten-Vogt's disease, is a disorder of young children who manifest visual, neurologic, and mental problems. The ophthalmologist can provide helpful diagnostic information by examining the fundus and performing an electroretinogram. In addition, diagnostic markers can be identified by examining circulating lymphocytes from a peripheral blood specimen with light and electron microscopy.
D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis*; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008064:Lipidoses / Q000145:classification; D008214:Lymphocytes / Q000648:ultrastructure*; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000097:blood / Q000175:diagnosis*