The recognition of a particular form of late infantile amaurotic idiocy.
D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure