Infantile neuroaxonal dystrophy is an autosomal recessive neurodegenerative disorder characterized by dystrophic changes involving mainly the terminal axons. The dystrophic axons result from a defective retrograde axonal transport, but the underlying metabolic defect is unknown. A disorder with similar axonal pathology called schindler’s disease is caused by N-acetylgalactosaminidase deficiency. It has been reported in two siblings with clinical and neuropathological features of infantile neuroaxonal dystrophy . The both disorder present during the first 2 years of life with psychomotor deterioration, hypotonia, pendular nystagmus, and symmetrical pyramidal tract signs.
KeywordsGlobus Pallidus Psychomotor Deterioration Pigmentary Retinopathy Dystrophic Axon Independent Ambulation
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17 Neuroaxonal Degeneration