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Pigment variant of neuronal ceroid-lipofuscinosis

✍ Scribed by Goebel, Hans Hilmar ;Gullotta, Filippo ;Bajanowski, Thomas ;Hansen, Flemming Juul ;Braak, Heiko

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
697 KB
Volume
57
Category
Article
ISSN
0148-7299

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✦ Synopsis

A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated.

In addition to those patients with the pigment variant of NCL, described earlier

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