J Korean Neurosurg Soc.  2015 Apr;57(4):295-297. 10.3340/jkns.2015.57.4.295.

Misunderstanding of Foot Drop in a Patient with Charcot-Marie-Tooth Disease and Lumbar Disk Herniation

• Han Y
• Kim KT
• Cho DC
• Sung JK

• KMID: 1956430
• DOI: http://doi.org/10.3340/jkns.2015.57.4.295

Abstract

We report the case of 57-year-old woman diagnosed with Charcot-Marie-Tooth (CMT) disease and lumbar disk herniation (LDH). She had left leg weakness and foot numbness, foot deformity (muscle atrophy, high arch, and clawed toes). The lumbar spine MRI showed LDH at L4-5. Additionally, electrophysiology results were consistent with chronic peripheral motor-sensory polyneuropathy (axonopathy). In genetic testing, 17p11.2-p12 duplication/deletions characteristic of CMT disease were observed. We confirmed the patient's diagnosis as CMT disease and used conservative treatment.

Keyword

Charcot-Marie-Tooth disease; Foot drop; Lumbar disk herniation

MeSH Terms

Animals
Atrophy
Charcot-Marie-Tooth Disease*
Diagnosis
Electrophysiology
Female
Foot Deformities
Foot*
Genetic Testing
Hoof and Claw
Humans
Hypesthesia
Leg
Magnetic Resonance Imaging
Middle Aged
Polyneuropathies
Spine

Figure

• 

  Fig. 1 Foot photography showing muscle atrophy, high arch, and clawed toes.

• 

  Fig. 2 Lumbar MRI showing lumbar disk herniation on the L4-5 left side. The left L5 root is mildly compressed by a herniated disc.

Reference

1. Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, et al. Diagnosis of Charcot-Marie-Tooth disease. J Biomed Biotechnol. 2009; 2009:985415. PMID: 19826499.

2. Boos N, Semmer N, Elfering A, Schade V, Gal I, Zanetti M, et al. Natural history of individuals with asymptomatic disc abnormalities in magnetic resonance imaging : predictors of low back pain-related medical consultation and work incapacity. Spine (Phila Pa 1976). 2000; 25:1484–1492. PMID: 10851096.

3. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol. 1968; 18:603–618. PMID: 4297451.

4. El-Abassi R, England JD, Carter GT. Charcot-Marie-Tooth disease : an overview of genotypes, phenotypes, and clinical management strategies. PM R. 2014; 6:342–355. PMID: 24434692.

5. Gilchrist RV, Bhagia SM, Lenrow DA, Chou LH, Chow D, Slipman CW. Painless foot drop : an atypical etiology of a common presentation. Pain Physician. 2002; 5:419–421. PMID: 16886021.

6. Horacek O, Mazanec R, Morris CE, Kobesova A. Spinal deformities in hereditary motor and sensory neuropathy : a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. Spine (Phila Pa 1976). 2007; 32:2502–2508. PMID: 18090092.

7. Iizuka Y, Iizuka H, Tsutsumi S, Nakagawa Y, Nakajima T, Sorimachi Y, et al. Foot drop due to lumbar degenerative conditions : mechanism and prognostic factors in herniated nucleus pulposus and lumbar spinal stenosis. J Neurosurg Spine. 2009; 10:260–264. PMID: 19320587.

8. Katirji MB, Wilbourn AJ. Common peroneal mononeuropathy : a clinical and electrophysiologic study of 116 lesions. Neurology. 1988; 38:1723–1728. PMID: 2847078.

9. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009; 8:654–667. PMID: 19539237.

10. Pareyson D, Scaioli V, Laurà M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med. 2006; 8:3–22. PMID: 16775364.

11. Reilly MM. Sorting out the inherited neuropathies. Pract Neurol. 2007; 7:93–105. PMID: 17430873.

12. Saal JA. Natural history and nonoperative treatment of lumbar disc herniation. Spine (Phila Pa 1976). 1996; 21(24 Suppl):2S–9S. PMID: 9112320.

13. Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009; 17:703–710. PMID: 19277060.

14. van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies : Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis. 2014; 9:38. PMID: 24646194.

15. Winn RH. Youmans Neurological Surgery. ed 6. Philadelphia: Elsevier Saunders;2011. p. 2407–2408.