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Nervous and ocular disorders in children with cholestasis and vitamin A and E deficiencies
Insights
Children with chronic cholestasis and vitamin deficiencies may develop neurological and eye problems. Early retinal electrical abnormalities signal this syndrome, suggesting vitamin E or A+E treatment.
Area of Science:
- Pediatric Neurology
- Clinical Ophthalmology
- Nutritional Science
Background:
- Chronic cholestasis in infants can lead to vitamin deficiencies.
- Vitamin A and E deficiencies are linked to neurological and ophthalmological issues.
- Investigating the impact of these deficiencies in pediatric patients is crucial.
Purpose of the Study:
- To investigate neurological and ophthalmological symptoms in children with chronic cholestasis and vitamin A/E deficiency.
- To identify early diagnostic markers for this condition.
- To evaluate the potential benefits of vitamin supplementation.
Main Methods:
- Studied 13 children (10 months-20 years) with chronic cholestasis and low vitamin A/E levels.
- Assessed neurological symptoms (peripheral neuropathy, cerebellar dysfunction) and ophthalmological signs (eye movement abnormalities, retinal degeneration).
- Utilized electrophysiological and morphological studies of nerves and muscles, including electroretinography.
Main Results:
- Identified four key clinical findings: peripheral neuropathy, cerebellar dysfunction, abnormal eye movements, and retinal degeneration.
- Electrophysiological and morphological studies indicated neurono-axonal degeneration.
- Decreased b wave amplitude on electroretinogram (ERG) was identified as an early sign of retinal involvement.
Conclusions:
- Children with chronic cholestasis and vitamin A/E deficiency are at risk for neurono-axonal degeneration.
- Retinal electrical abnormalities, particularly on ERG, are early indicators of the syndrome.
- Parenteral vitamin E or combined A+E supplementation is suggested for affected patients.
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.