An inherited disorder associated with the deposition of a steroid known as cholestanol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, juvenile or infantile onset chronic diarrhea, childhood neurological deficit, and tendineous or tuberous xanthomas.
Cerebrotendineous xanthomatosis
Grinker myelinopathy
White dot syndromes
Neuromyelitis optica spectrum disorder
Lipohyalinosis
Multiple evanescent white dot syndrome
Canavan disease
Camel spongiform encephalopathy