Severe infantile axonal neuropathy with respiratory failure

We describe 5 infants (4 male, 1 female) with a severe intractable form of motor-sensory axonal neuropathy. All became ventilator-dependent, 4 have si nce 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 perio d, resulting in severe progressive deterioration and then a static period w ithout recovery. (C) 2001 John Wiley & Sons, Inc.