Nervous and Ocular Disorders in Children with Cholestasis and Vitamin A and E Deficiencies

Authors

  • Fernando Alvarez,

    Corresponding author
    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
    • Fernando Alvarez, M.D., INSERM U 56, Hǒpital de Bicétre, 94270 Le Kremlin-Bicětre, France.
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  • Pierre Landrieu,

    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
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  • Paul Laget,

    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
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  • Frédérique Lemonnier,

    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
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  • Michel Odièvre,

    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
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  • Daniel Alagille

    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Laboratoire de Neuropathologie, Hopital de Bicětre, 94270 Le Kremlin-Bicětre, France; and Laboratoire de Neurophysiologie Clinique de I'Enfant, Hopital Trousseau, 75571 Paris, France
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Abstract

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 jieurono-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.

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