title: Peripheral neuropathies of infancy.
abstract: Over a 33-year period, 260 patients (< 17 years of age; 119 males, 141 females) from New South Wales, Australia who had peripheral neuropathies confirmed by nerve biopsy, were studied. Of these, 50 infants presented with symptoms or signs of neuropathy under 1 year of age: including 24 patients with demyelinating neuropathies and 21 axonal neuropathies; a further five patients had spinal muscular atrophy with associated secondary sensory axonopathy. Nineteen infants had hereditary motor sensory neuropathy, of whom 13 had myelin protein mutations confirmed by molecular genetic studies. Peripheral neuropathy is not an unusual diagnosis in infancy. Awareness of this association will aid early diagnosis and prognosis as well as facilitate interventional patient management.
authors.affiliation: The Children's Hospital at Westmead, PO Box 3515, Parramatta, NSW 2124, Australia. wilmshur@ich.uct.ac.za
authors.forename: Jo M
authors.initials: JM
authors.lastname: Wilmshurst
authors.forename: John D
authors.initials: JD
authors.lastname: Pollard
authors.forename: Garth
authors.initials: G
authors.lastname: Nicholson
authors.forename: Jayne
authors.initials: J
authors.lastname: Antony
authors.forename: Robert
authors.initials: R
authors.lastname: Ouvrier
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009517:New South Wales / Q000453:epidemiology; D017063:Outcome Assessment, Health Care; D010523:Peripheral Nervous System Diseases / Q000453:epidemiology* / Q000209:etiology / Q000473:pathology*; D012307:Risk Factors; D012720:Severity of Illness Index