Abstract
We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Action Potentials
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Charcot-Marie-Tooth Disease / complications*
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Charcot-Marie-Tooth Disease / physiopathology
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Charcot-Marie-Tooth Disease / therapy
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Child, Preschool
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Chromosomes, Human, Pair 17 / genetics
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Chronic Disease
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Disability Evaluation
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Drug Administration Schedule
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Female
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Gene Duplication
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Humans
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Immunoglobulins, Intravenous / administration & dosage
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Immunomodulation
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Muscle, Skeletal / physiopathology
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Neural Conduction
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Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / complications*
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Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / physiopathology
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Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / therapy
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Sensory Receptor Cells
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Treatment Outcome
Substances
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Immunoglobulins, Intravenous