Atypical neuronal ceroid-lipofuscinosis.
We describe the clinical, pathologic, and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, ultrastructurally, and clinically from another disorder called juvenile dystonic lipidosis, with which it has been confused.
D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002566:Ceroid / Q000378:metabolism*; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000378:metabolism / Q000473:pathology*; D008062:Lipofuscin / Q000378:metabolism*; D009422:Nervous System Diseases / Q000378:metabolism / Q000473:pathology*; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010860:Pigments, Biological / Q000378:metabolism*
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological