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KMID : 0361419970210020449
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Journal of Korean Academy of Rehabilitation Medicine
1997 Volume.21 No. 2 p.449 ~ p.454
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Electrodiagnostic Study in Rett Syndrome -A case report-
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Abstract
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Rett syndrome is a progressive encephalopathy in females that appears during the first 18 months of the life. A few neurophysiologic investigations. of peripheral nerve and electrodiagnostic studies in Rett syndrome have proposed mild distal
axonopathy.
However, the electrodiagnostic study shows demyelination rather than axonopathy in presenting patient with Rett syndrome.
An 11-year-old female had normal birth history, no perinatal problems and normal development until age of 18 months. Developmental regression was recognized by her parent and slowly progressed. On physical examination at her age of 7 years,
stereotypic
hand movements were present and the could walk with frequent falls. Brain Computed Tomography was not specific and electrodiagnostic study revealed slow conduction velocity in all nerves tested. After follow-up for 4 years, has hand wringling
remained
and she became unable to walk alone. Electrodiagnostic study revealed; 1) Compound muscle action potentials and sensory nerve action potentials in all the nerves tested showed prolonged distal latency with normal amplitude. 2) F waves were
evoked
with
prolonged latency in the all the nerves tested. 3) H-reflex were absent, bilaterally. 4) Facial motor conduction study and blink reflex showed normal findings. 5) Auditory evoked potential and visual evoked potential studies showed normal
findings.
This
electrodiagnostic study indicates a demyelinating neuropathy.
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KEYWORD
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