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 corpu...

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Bibliographic Details
Published in:Journal of the peripheral nervous system 2012-03, Vol.17 (1), p.123-127
Main Authors: Lourenço, Charles M., Dupré, Nicolas, Rivière, Jean-Baptiste, Rouleau, Guy A., Marques, Vanessa D., Genari, Adriana B., Santos, Antonio C., Barreira, Amilton A., Marques Jr, Wilson
Format: Article
Language:English
Subjects:
Action potential
Agenesis of Corpus Callosum - diagnosis
Agenesis of Corpus Callosum - genetics
Agenesis of Corpus Callosum - physiopathology
Andermann syndrome
Cerebellar ataxia
Corpus callosum
Demyelination
Development
Diagnosis, Differential
Differential diagnosis
Eye
Female
hereditary neuropathy
Humans
Muscles
Mutation
Nerve conduction
nerve conduction studies
Neuropathy
Peripheral Nervous System Diseases - diagnosis
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - physiopathology
Scoliosis
Symporters - genetics
Young Adult
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Summary: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.
ISSN:1085-9489
1529-8027
DOI:10.1111/j.1529-8027.2012.00374.x