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Infantile neuroaxonal dystrophy (seitelberger disease [2]; spastic amaurotic axonal idiocy)


Infantile Neuroaxonal Dystrophy (Seitelberger Disease [2]; Spastic Amaurotic Axonal Idiocy)

General: Axonal disease; occurs chiefly in female infants, less frequently in older children; etiology possib 535c26f ly vitamin E deficiency; autosomal recessive; selective axonal degeneration in the retina.

Ocular: Nystagmus; blindness; degeneration of optic pathways and long tracts.

Clinical: Muscular hypotonia; decreased pain sense; arrest of development in late infancy; areflexia; atonic bladder; dementia; spasticity; ataxia; spread of axonal lesions in the posterior gray horns of spinal cord, restiform bodies, and tegmentum of the lower brainstem; atrophy of the cerebral cortex; degeneration of the caudate nucleus and putamen with accumulation of lipids in these nuclei and in the globus pallidus may be associated; accumulation of iron-containing pigment in the globus pallidus and putamen occurs.



Goebel HH, Lehmann J. An ultrastructural study of the retina in human late infantile neuroaxonal dystrophy. Retina 1993; 13:50-55.

Martin JJ, et al. Skin and conjunctival biopsies in infantile neuroaxonal dystrophy. Acta Neuropathol 1979; 45: 247-25l.

Seitelberger F. Eine Unbekannte Form von Infantiler Lipoid speicher Krankheit des Gehirns. Proc 1st Int Cong Neuropathol (Turin) 1952; 3:323-333.




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