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A 57-year-old woman was seen in the neurology clinic of this hospital because of longtime numbness and weakness in her feet and legs.
In adolescence, she had noticed that her pupils were dilated, fixed, and unequal in size. Evaluation at that time did not reveal a cause. She had occasional difficulty seeing in bright light or at night. She did not have orthostatic symptoms. She occasionally had a choking sensation when she swallowed solids or liquids.
When she was in her early 30s, numbness developed over the anterior surfaces of her shins and ankles. She described the sensation as "uncomfortable,
Differential Diagnosis
Approach to the Patient with Polyneuropathy
Charcot–Marie–Tooth Disease
Electrodiagnostic Studies
Genetic Subtypes of Charcot–Marie–Tooth Disease Type 2
Sensory Manifestations in Charcot–Marie–Tooth Disease
Clinical Diagnosis
Dr. William J. Triggs's Diagnosis
Pathological Discussion
Anatomical Diagnosis
Source Information
From the Department of Neurology, McKnight Brain Institute, University of Florida, and the University of Florida College of Medicine — both in Gainesville (W.J.T.); the Department of Neurology, Massachusetts General Hospital, and the Department of Medicine, Harvard Medical School — both in Boston (R.H.B.); and the Department of Neurology, University of Tennessee Health Sciences Center, Memphis (D.L.M.).
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