Severe infantile axonal neuropathy with respiratory failure.

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.

• Authors: J M Wilmshurst, A Bye, C Rittey, C Adams, A F Hahn, D Ramsay, R Pamphlett, J D Pollard, R Ouvrier
• Journal: Muscle & nerve (Muscle Nerve) Vol. 24 Issue 6 Pg. 760-8 (Jun 2001) ISSN: 0148-639X [Print] United States
• PMID: 11360259 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2001 John Wiley & Sons, Inc.

Topics

• Biopsy
• Consanguinity
• Female
• Fetal Growth Retardation
• Humans
• Infant
• Male
• Myelin Sheath (pathology, ultrastructure)
• Nerve Fibers, Myelinated (pathology, ultrastructure)
• Phrenic Nerve (pathology)
• Polyneuropathies (complications, genetics, pathology, physiopathology)
• Pregnancy
• Respiratory Insufficiency (complications, genetics, physiopathology)
• Spinal Cord (pathology)