Thirteen children, aged 10 months to 20 years, presenting with chronic 
cholestasis from the first month of life and with low serum levels of vitamins A 
and/or E, have been investigated for neurological and ophthalmological symptoms. 
Clinical findings consisted of 4 types: peripheral neuropathy; cerebellar 
dysfunction; abnormalities of eye movement, and retinal degenerative changes. 
The results of electrophysiological and morphological studies of muscle and 
nerves were consistent with neurono-axonal degeneration. Electrical 
abnormalities of the retina, especially a decrease of the b wave of 
electroretinogram, appear to be the first sign of the syndrome, allowing early 
detection. Evidence for vitamin deficiency (E or E+A) suggests substitutive 
parenteral treatment in such patients.