CMT 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy

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Rinsho Shinkeigaku. 2008 Jun;48(6):419-21.

A case of Charcot-Marie-Tooth disease type 1A with increased

cerebrospinal fluid proteins and nerve root hypertrophy

Ishigami N, Kondo M, Nakagawa M.

Department of Neurology, Kyoto Prefectural University of Medicine.

We report herein a 54-year-old man who first noticed muscle weakness

of the hands and legs and hypesthesia of the legs at 20-years-old.

Symptoms gradually worsened. Charcot-Marie-Tooth disease type 1A (CMT

1A) was diagnosed on the basis of a nerve conduction study and PMP22

gene duplication.

Increased levels of cerebrospinal fluid proteins were identified and

cervical and lumbosacral nerve root hypertrophy was evident on

magnetic resonance imaging (MRI). CMT 1A with increased CSF proteins

and nerve root hypertrophy was carefully evaluated clinically and

electrophysiologically to rule out other motor sensory neuropathies

such as CIDP. Increased levels of CSF proteins in this case might

have resulted from circulatory disturbance of CSF in hypertrophic

nerve roots.