HMSN (CMT 1) with hypertrophy of the cauda equina & concomitant demyelinating wh

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Radiologe. 2005 Jul;45(7):593-596.

Hereditary motor and sensory neuropathy with hypertrophy of the cauda

equina and concomitant demyelinating white matter lesions.

Ertl-Wagner BB, Helmchen C, Stabler A, Fassmann F, Reiser MF.

Institut fur klinische Radiologie, Klinikum Grosshadern, Universitat

Munchen,.

Hereditary motor and sensory neuropathy (HMSN) is thought to almost

exclusively affect the peripheral nervous system. We report the case

of a 48-year-old patient with a longstanding history of HMSN type I

who developed signs and symptoms of a cauda equina compression and of

a central nervous system relapsing-remitting demyelinating white

matter disease. Gross enlargement of the cauda equina fibers was

detected by MR imaging of the lumbar spine. Cranial MR imaging

revealed demyelinating white matter lesions. This case suggests that

peripheral neuropathic mechanisms may also affect the central myelin

in HMSN type I.