Charcot-Marie-Tooth disease
* Introduction
* Diagnosis
* Treatment
Diagnosis
Imaging Studies:
Electromyography and nerve conduction studies show demyelinating form of slow driving. All nerves test shows the same low speed driving. The neuronal forms of nerve conduction velocity is normal, but small amplitude sensitive. It is obvious insetionale increased activity and fibrillation potentials. Neuropathic motor unit shows the changes in morphology.
Histological examination: disease type 1 in peripheral nerves contain few myelinated fibers, and the intramuscular connective tissue are surrounded by rich and neurilema hyperplasia. Myelin is along the atrophic fibers. Describe the leaf sheath concentric hypertrophy. Note the typical onion bulb formation with concentric proliferation of Schwann cells. In type 2 describes axonal degeneration in type 3 demyelination and thinner myelin sheath. No inflammatory infiltrates are described to indicate a demyelinating autoimmune process.
The differential diagnosis is made with the following conditions: alcoholism, HIV infection, leprosy, neurosyphilis, vitamin B12 deficiency, thyroid disease, diabetes, vascultita, amyloidosis, occult malignancy, heavy metal poisoning, chronic inflammatory demyelinating polyneuropathy, ataxia Friedrich.
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