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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies.

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.[1]


  1. Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies. Alvarez, F., Landrieu, P., Laget, P., Lemonnier, F., Odièvre, M., Alagille, D. Hepatology (1983) [Pubmed]
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