title: Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies.
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 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications*; D004576:Electromyography; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005133:Eye Movements; D006801:Humans; D007223:Infant; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D012162:Retinal Degeneration / Q000150:complications*; D013577:Syndrome; D014802:Vitamin A Deficiency / Q000150:complications*; D014811:Vitamin E Deficiency / Q000150:complications*