title: 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.affiliation: Institute for Neuromuscular Research, Children's Hospital at Westmead, P.O. Box 3515, Parramatta, NSW 2124, Australia.
authors.forename: J M
authors.initials: JM
authors.lastname: Wilmshurst
authors.forename: A
authors.initials: A
authors.lastname: Bye
authors.forename: C
authors.initials: C
authors.lastname: Rittey
authors.forename: C
authors.initials: C
authors.lastname: Adams
authors.forename: A F
authors.initials: AF
authors.lastname: Hahn
authors.forename: D
authors.initials: D
authors.lastname: Ramsay
authors.forename: R
authors.initials: R
authors.lastname: Pamphlett
authors.forename: J D
authors.initials: JD
authors.lastname: Pollard
authors.forename: R
authors.initials: R
authors.lastname: Ouvrier
mesh_terms: D001706:Biopsy; D003241:Consanguinity; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D007223:Infant; D008297:Male; D009186:Myelin Sheath / Q000473:pathology / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000648:ultrastructure; D010791:Phrenic Nerve / Q000473:pathology; D011115:Polyneuropathies / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D011247:Pregnancy; D012131:Respiratory Insufficiency / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D013116:Spinal Cord / Q000473:pathology