Diagnosis: Charcot-Marie-Tooth disease (HMSN-I) Charcot-Marie-Tooth disease is otherwise known as hereditary motor-sensory neuropathy Type I or HMSN-1 and is in the spectrum of hereditary motor sensory neuropathies which include HMSN-II, familial amyloid neuropathy, and autosomal recessive disorders such as HMSN-III or Dejerin-Sottas hypertrophic neuropathy of childhood as well as Refsum disease. Patients present with progressive distal motor weakness in the lower extremities with sensory disturbance. Most patients with HMSN-I have a family history of the disorder. On imaging, the lumbosacral nerve roots are enlarged sometimes massively in which case the disease may mimic neurofibromatosis. In general, other things to consider in the differential of enlarged nerve roots in the cauda include leptomeningeal carcinomatosis, toxic neuropathy, and granulomatosis process such as Langerhans cell histiocytosis, and sarcoidosis. Arachnoiditis is a consideration though this tends to produce nerve roots which are clumped. Related Cases
Choi SK, Bowers RP, Buckthal PE. MR imaging in hypertrophic neuropathy: a case of hereditary motor and sensory neuropathy, type I (Charcot-Marie Tooth). Clin Imaging, Aug 1990; 14(3):p204-7.