A Woman With a Neuropathy and Symptoms of a Central Nervous System Disease

A 34-year-old woman presented initially to another center with a 4-month history of numbness of the right hemibody which developed after a fall at work. Two months later, she developed weakness in her right side, more in the leg than the arm. A year later, she experienced weakness of the left hemibody and burning sensations in the arms.

Family history and past medical history were negative. She did not smoke or drink alcohol and was on no medications.

She was examined then by a neurologist who reported decreased pain and temperature sensations in the right hemibody. Brain MRI revealed multiple areas of increased signal in the periventricular white matter of the left hemisphere consistent with multiple sclerosis (MS). She improved after 2 weeks of corticosteroid therapy and was then referred to us complaining of headache, right-sided weakness, and numbness with a burning sensation in all extremities for 3 months.

Mentation, cranial nerves, and strength were normal; there was no muscle atrophy. Reflexes were absent in the lower extremities, 1+ in the arms. She had patchy decreased sensation to vibration and pain in the right arm and leg and decreased sensation to vibration in the toes. There was no nerve hypertrophy, fasciculations, myotonia, hammertoes, or Babinski signs. Coordination was normal.

What is the Differential Diagnosis?

The history and previous MRI suggest that the patient has a central demyelinating disease such as MS, which sometimes might also present with a neuropathy. It is also possible that the patient has MS and a neuropathy caused by another condition, such as diabetes or B ₁₂ deficiency. Other diseases with central and peripheral demyelination include rare forms of Charcot–Marie–Tooth (CMT) disease, particularly CMT type X, HIV infection, metachromatic leukodystrophy, and adrenoleukodystrophy, but this usually occurs only in men. There are cases of mitochondrial encephalogastrointestinal neuropathy that can be confused with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) initially and later show central nervous system (CNS) demyelination.