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A 25-year-old woman presented with a 10-year history of frequent falls and deafness. Her mother had a similar neurologic picture. Examination showed peroneal amyotrophy, pes cavus, and hearing loss. Magnetic… Click to show full abstract
A 25-year-old woman presented with a 10-year history of frequent falls and deafness. Her mother had a similar neurologic picture. Examination showed peroneal amyotrophy, pes cavus, and hearing loss. Magnetic resonance (MR) neurography showed diffuse nerve enlargement in the lower limbs (figure). Genetic analysis revealed heterozygous mutation c.82T>C (p.Trp28Arg) in the PMP22 gene, defining diagnosis of Charcot-Marie-Tooth disease (CMT) type 1A.
Keywords:
diagnosis hypertrophic;
neurology;
hypertrophic neuropathies;
neurography diagnosis;
neuroimages neurography;
teaching neuroimages
Journal Title: Neurology
Year Published: 2017
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Journal Title: Neurology
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!