We report an eleven year old girl with early motor difficulties initially diagnosed with a
peripheral neuropathy in another hospital based on abnormal electrophysiological findings.
Our clinical assessment did not highlight obvious clinical features supporting a peripheral
neuropathy but evidence of mild proximal weakness. Electrophysiological studies performed
at our hospital revealed evidence of a sensorimotor demyelinating polyneuropathy with
possible axonal involvement. Brain magnetic resonance imaging (MRI) revealed subtle …