Which histologic findings are characteristic of Charcot-Marie-Tooth disease (CMT)?

Updated: Jun 23, 2021
  • Author: Divakara Kedlaya, MBBS; Chief Editor: Elizabeth A Moberg-Wolff, MD  more...
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Answer

In Charcot-Marie-Tooth disease type 2 (CMT-1), peripheral nerves contain few myelinated fibers, intramuscular nerves are surrounded by a rich connective tissue and hyperplastic neurilemma, and lengths of myelin are atrophic along the fibers.

Concentric hypertrophy of the lamellar sheaths is seen. Formation of the typical onion bulb, made up of circumferentially directed Schwann cells and their processes, is noted.

In CMT-2, axonal degeneration is observed.

In CMT-3, Dejerine-Sottas disease, demyelination with thinning of the myelin sheath can be seen. [69]

No inflammatory infiltrate should be present, indicating an autoimmune demyelinating process.


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