Peripheral neuropathies of infancy

Jo M. Wilmhurst*, John D. Pollard, Garth Nicholson, Jayne Antony, Robert Ouvrier

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)408-414
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Issue number6
Publication statusPublished - 1 Jun 2003
Externally publishedYes


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