Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy

Vedanarayanan, Vettaikorumakankav; Smith, Stanley V.; Subramony, S. H.; Bock, G.O.; Evans, Owen B.

doi:10.1002/(sici)1097-4598(199811)21:11<1473::aid-mus16>3.0.co;2-1

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Cited by 14 publications

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Severe infantile axonal neuropathy with respiratory failure

et al. 2001

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We describe 5 infants (4 male, 1 female) with a severe intractable form of motor-sensory axonal neuropathy. All became ventilator-dependent, 4 have since died and 1 remains static. Diaphragmatic paralysis was an early feature with generalized neuropathy evolving rapidly. Nerve conduction studies and biopsies were consistent with axonal disease. This disorder could be a new condition or part of the spectrum of inherited neuropathies of the axonal degenerative type. It may be that there is a "switching-off" in the infant's Schwann cell-axonal interactions in utero or in the early postnatal period, resulting in severe progressive deterioration and then a static period without recovery.

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