Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome
Charles M. Lourenço
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorNicolas Dupré
Department of Neurological Sciences, Faculty of Medicine, Laval University, CHAUQ – Enfant-Jésus Quebec City
Search for more papers by this authorJean-Baptiste Rivière
Department of Medicine, University of Montreal, Montreal, QC, Canada
Search for more papers by this authorGuy A. Rouleau
Department of Medicine, University of Montreal, Montreal, QC, Canada
Search for more papers by this authorVanessa D. Marques
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAdriana B. Genari
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAntonio C. Santos
Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAmilton A. Barreira
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorCorresponding Author
Wilson Marques Jr
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Wilson Marques Jr, Faculdade de Medicina de Ribeirão Preto, USP, Av. Bandeirantes, 3900, CEP 14049-900, Ribeirão Preto, São Paulo, Brazil. Tel: +55 16 36022391; Fax: +55 16 36022391; E-mail: [email protected]Search for more papers by this authorCharles M. Lourenço
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorNicolas Dupré
Department of Neurological Sciences, Faculty of Medicine, Laval University, CHAUQ – Enfant-Jésus Quebec City
Search for more papers by this authorJean-Baptiste Rivière
Department of Medicine, University of Montreal, Montreal, QC, Canada
Search for more papers by this authorGuy A. Rouleau
Department of Medicine, University of Montreal, Montreal, QC, Canada
Search for more papers by this authorVanessa D. Marques
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAdriana B. Genari
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAntonio C. Santos
Department of Internal Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorAmilton A. Barreira
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Search for more papers by this authorCorresponding Author
Wilson Marques Jr
Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil
Wilson Marques Jr, Faculdade de Medicina de Ribeirão Preto, USP, Av. Bandeirantes, 3900, CEP 14049-900, Ribeirão Preto, São Paulo, Brazil. Tel: +55 16 36022391; Fax: +55 16 36022391; E-mail: [email protected]Search for more papers by this authorAbstract
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.
Supporting Information
Supporting Information
Additional Supporting Information may be found in the online version of this article:
Figure S1 Brain MRI with T1-weighted sagittal image (A), T2-weighted sagittal image (B), coronal T2-weighted video inverted (C), and axial FLAIR (D). The arrow points to the absence of the corpus callosum on (A) and (B), the high position of the third ventricle on (C) and the periventricular demyelination of the white matter on (D). Note the hypogenesis of the vermis (*) with a wide communication of the fourth ventricle with the mega cisterna magna.
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