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Case No. 284
2012-11-01~2012-11-30
출제자 : 차지훈
Hit : 418
| Period | 2012-11-01~2012-11-30 |
|---|---|
| Diagnosis | Charcot-Marie-Tooth disease |
| Clinical information | F/22, 2년 전부터 발가락 힘이 빠짐. 진단은? |
| Discussion | Hereditary motor and sensory neuropathy (HMSN) A clinically and genetically heterogeneous group of disorders characterized by muscle wasting, weakness, and sensory loss usually most severe distally The commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Classic CMT1A AD, Dup 17p (PMP22 gene duplication) Distal muscle weakness, hypoactive or absent tendon reflexes, significantly decreased motor nerve conduction velocities Hypertrophic onion-bulb changes, demyelination on nerve biopsy. Symptoms usually begin in the second decade. Radiologic findings Smooth nerve root, peripheral nerve enlargement, often massive (hypertrophic neuropathy) Absence of faint enhancement Absence of leptomeningeal disease References Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. Aho TR, Wallace RC, Pitt AM, Sivakumar K. AJNR Am J Neuroradiol. 2004 Mar;25(3):494-7. MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. Cellerini M, Salti S, Desideri V, Marconi G. AJNR Am J Neuroradiol. 2000 Nov-Dec;21(10):1793-8. MRI of the cauda equina in CIDP: clinical correlations. J Neurol Sci. 1999 Nov 15;170(1):36-44. |
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