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Charcot-Marie-Tooth disease (HMSN)

Case contributed by Roberto Schubert
Diagnosis certain

Presentation

MRI follow-up examination after lengthening of the Achilles tendon and transposition of the peroneus longus and tibialis posterior tendons in a paralytic foot due to a hereditary neuropathic disorder.

Patient Data

Age: 40 years
Gender: Female

Severe atrophy of all intrinsic (short) foot muscles, which have been replaced by fat tissue. Pes cavus and hammer toe deformities with twisting of the ankle. Arthropathy with bone edema around the third tarsometatarsal joint. Normal postoperative scarring and susceptibility artifacts after Achilles tendon lengthening and transposition of the peroneus longus to the brevis tendon and the tibialis posterior tendon to the lateral os cuneiforme.

Case Discussion

The patient had been previously diagnosed with hereditary motor and sensory neuropathy type I B, relating to a mutation of the P0-gene, which encodes a major structural glycoprotein of the myelin sheath of peripheral nerves.

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