Demyelinating prenatal and infantile developmental neuropathies
Eppie M. Yiu,
Monique M. Ryan,
Eppie M. Yiu
Children's Neuroscience Centre, Royal Children's Hospital
Murdoch Childrens Research Institute, Flemington Rd, Parkville, 3052, Victoria, Australia
Search for more papers by this authorCorresponding Author
Monique M. Ryan
Children's Neuroscience Centre, Royal Children's Hospital
Murdoch Childrens Research Institute, Flemington Rd, Parkville, 3052, Victoria, Australia
Department of Paediatrics, The University of Melbourne, Australia
Monique Ryan, Associate Professor, Children's Neuroscience Centre, Royal Children's Hospital, Flemington Rd, Parkville, 3052 Victoria, Australia. Tel: (+61)3-9345 5661; Fax: (+61)3-9345 5977; E-mail: [email protected]Search for more papers by this authorEppie M. Yiu,
Monique M. Ryan,
Eppie M. Yiu
Children's Neuroscience Centre, Royal Children's Hospital
Murdoch Childrens Research Institute, Flemington Rd, Parkville, 3052, Victoria, Australia
Search for more papers by this authorCorresponding Author
Monique M. Ryan
Children's Neuroscience Centre, Royal Children's Hospital
Murdoch Childrens Research Institute, Flemington Rd, Parkville, 3052, Victoria, Australia
Department of Paediatrics, The University of Melbourne, Australia
Monique Ryan, Associate Professor, Children's Neuroscience Centre, Royal Children's Hospital, Flemington Rd, Parkville, 3052 Victoria, Australia. Tel: (+61)3-9345 5661; Fax: (+61)3-9345 5977; E-mail: [email protected]Search for more papers by this authorAbstract
The prenatal and infantile neuropathies are an uncommon and complex group of conditions, most of which are genetic. Despite advances in diagnostic techniques, approximately half of children presenting in infancy remain without a specific diagnosis. This review focuses on inherited demyelinating neuropathies presenting in the first year of life. We clarify the nomenclature used in these disorders, review the clinical features of demyelinating forms of Charcot-Marie-Tooth disease with early onset, and discuss the demyelinating infantile neuropathies associated with central nervous system involvement. Useful clinical, neurophysiologic, and neuropathologic features in the diagnostic work-up of these conditions are also presented.
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