peripheral neuropathies of infancy - from Australia

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Abstract from Dev Med Child Neurol. 2003 Jun;45(6):408-14.

Peripheral neuropathies of infancy.

Wilmshurst JM, Pollard JD, Nicholson G, Antony J, Ouvrier R. The

Children's Hospital at Westmead, PO Box 3515, Parramatta, NSW 2124,

Australia.

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.