Expanding the differential diagnosis of inherited neuropathies with non‐uniform conduction: Andermann syndrome
Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18‐year‐old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non‐uniform conduction slowing.
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Document Type: Research Article
Publication date: March 1, 2012