Severe infantile axonal neuropathy with respiratory failure

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Abstract
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. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 760–768, 2001

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