Journal of Korean Neurosurgical Society

The Korean Neurosurgical Society (대한신경외과학회)
권호 표지
DOI QR코드

DOI QR Code

A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1

  • Lee, Seung Eun (Department of Neurosurgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine) ;
  • Park, Seung Won (Department of Neurosurgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine) ;
  • Ha, Sam Yeol (Department of Neurology, Haeundae Paik Hospital, Inje University) ;
  • Nam, Taek Kyun (Department of Neurosurgery, Chung-Ang University Hospital, Chung-Ang University College of Medicine)
  • Received : 2013.09.02
  • Accepted : 2014.06.13
  • Published : 2014.06.28
Download PDF
⟨ Previous Next ⟩

Abstract

To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid.

Keywords

References

  1. Bouchard C, Lacroix C, Plante V, Adams D, Chedru F, Guglielmi JM, et al. Clinicopathologic findings and prognosis of chronic inflammatory demyelinating polyneuropathy. Neurology 52 : 498-503, 1999 https://doi.org/10.1212/WNL.52.3.498
  2. Brewerton DA, Sandifer PH, Sweetnam DR : "Idiopathic" pes cavus : an investigation into its aetiology. Br Med J 2 : 659-661, 1963 https://doi.org/10.1136/bmj.2.5358.659
  3. Briani C, Brannagan TH 3rd, Trojaborg W, Latov N : Neuromuscul chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord 6 : 311-325, 1996 https://doi.org/10.1016/0960-8966(96)00356-2
  4. Butefisch C, Gutmann L, Gutmann L : Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. Neurology 52 : 890-891, 1999 https://doi.org/10.1212/WNL.52.4.890
  5. Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, et al. : Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 24 : 185-186, 2004
  6. Connolly AM : Chronic inflammatory demyelinating polyneuropathy in childhood. Pediatr Neurol 24 : 177-182, 2001 https://doi.org/10.1016/S0887-8994(00)00237-X
  7. Crino PB, Zimmerman R, Laskowitz D, Raps EC, Rostami AM : Magnetic resonance imaging of the cauda equina in Guillain-Barre syndrome. Neurology 44 : 1334-1336, 1994 https://doi.org/10.1212/WNL.44.7.1334
  8. 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 18 : 603-618, 1968 https://doi.org/10.1001/archneur.1968.00470360025002
  9. Dyck PJ, Swanson CJ, Low PA, Bartleson JD, Lambert EH : Prednisone-responsive hereditary motor and sensory neuropathy. Mayo Clin Proc 57 : 239-246, 1982
  10. Gabreels-Festen A, Gabreels F : Hereditary demyelinating motor and sensory neuropathy. Brain Pathol 3 : 135-146, 1993 https://doi.org/10.1111/j.1750-3639.1993.tb00738.x
  11. Ginsberg L, Platts AD, Thomas PK : Chronic inflammatory demyelinating polyneuropathy mimicking a lumbar spinal stenosis syndrome. J Neurol Neurosurg Psychiatry 59 : 189-191, 1995 https://doi.org/10.1136/jnnp.59.2.189
  12. Goldstein JM, Parks BJ, Mayer PL, Kim JH, Sze G, Miller RG : Nerve root hypertrophy as the cause of lumbar stenosis in chronic inflammatory demyelinating polyradiculoneuropathy. Muscle Nerve 19 : 892-896, 1996 https://doi.org/10.1002/(SICI)1097-4598(199607)19:7<892::AID-MUS12>3.0.CO;2-L
  13. Goodman BP, Driver-Dunckley ED, Leslie KO, Patel AC, Wesselius LJ : A case of gait unsteadiness--an atypical manifestation of an unusual disease. Lancet Neurol 6 : 1029-1032, 2007 https://doi.org/10.1016/S1474-4422(07)70268-5
  14. Gorson KC, Chaudhry VV : Chronic inflammatory demyelinating polyneuropathy. Curr Treat Options Neurol 1 : 251-262, 1999 https://doi.org/10.1007/s11940-999-0007-7
  15. Hahn AF, Bolton CF, Pillay N, Chalk C, Benstead T, Bril V, et al. : Plasma-exchange therapy in chronic inflammatory demyelinating polyneuropathy. A double-blind, sham-controlled, cross-over study. Brain 119 (Pt 4) : 1055-1066, 1996 https://doi.org/10.1093/brain/119.4.1055
  16. Hahn AF, Bolton CF, Zochodne D, Feasby TE : Intravenous immunoglobulin treatment in chronic inflammatory demyelinating polyneuropathy. A double-blind, placebo-controlled, cross-over study. Brain 119 (Pt 4) : 1067-1077, 1996 https://doi.org/10.1093/brain/119.4.1067
  17. Hahn M, Hirschfeld A, Sander H : Hypertrophied cauda equina presenting as intradural mass : case report and review of literature. Surg Neurol 49 : 514-518; discussion 518-519, 1998 https://doi.org/10.1016/S0090-3019(97)00160-2
  18. Hartung HP, van der Meche FG, Pollard JD : Guillain-Barre syndrome, CIDP and other chronic immune-mediated neuropathies. Curr Opin Neurol 11 : 497-513, 1998 https://doi.org/10.1097/00019052-199810000-00013
  19. Hattori N, Misu K, Koike H, Ichimura M, Nagamatsu M, Hirayama M, et al. : Age of onset influences clinical features of chronic inflammatory demyelinating polyneuropathy. J Neurol Sci 184 : 57-63, 2001 https://doi.org/10.1016/S0022-510X(00)00493-7
  20. Knopp EA, Chynn KY, Hughes J : Primary lymphoma of the cauda equina: myelographic, CT myelographic, and MR appearance. AJNR Am J Neuroradiol 15 : 1187-1189, 1994
  21. Koller H, Kieseier BC, Jander S, Hartung HP : Chronic inflammatory demyelinating polyneuropathy. N Engl J Med 352 : 1343-1356, 2005 https://doi.org/10.1056/NEJMra041347
  22. Krajewski K, Turansky C, Lewis R, Garbern J, Hinderer S, Kamholz J, et al. : Correlation between weakness and axonal loss in patients with CMT1A. Ann N Y Acad Sci 883 : 490-492, 1999 https://doi.org/10.1111/j.1749-6632.1999.tb08618.x
  23. Kretzer RM, Burger PC, Tamargo RJ : Hypertrophic neuropathy of the cauda equina : case report. Neurosurgery 54 : 515-518; discussion 518-519, 2004 https://doi.org/10.1227/01.NEU.0000103492.19663.EF
  24. Lewis RA : Chronic inflammatory demyelinating polyneuropathy and other immune-mediated demyelinating neuropathies. Semin Neurol 25 : 217-228, 2005 https://doi.org/10.1055/s-2005-871330
  25. Lins H, Kanakis D, Dietzmann K, Wallesch CW, Mawrin C : Paraneoplastic necrotizing myelopathy with hypertrophy of the cauda equina. J Neurol 250 : 1388-1389, 2003 https://doi.org/10.1007/s00415-003-0213-2
  26. Maisonobe T, Chassande B, Verin M, Jouni M, Leger JM, Bouche P : Chronic dysimmune demyelinating polyneuropathy : a clinical and electrophysiological study of 93 patients. J Neurol Neurosurg Psychiatry 61 : 36-42, 1996 https://doi.org/10.1136/jnnp.61.1.36
  27. McCombe PA, Pollard JD, McLeod JG : Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical and electrophysiological study of 92 cases. Brain 110 (Pt 6) : 1617-1630, 1987 https://doi.org/10.1093/brain/110.6.1617
  28. McLeod JG, Pollard JD, Macaskill P, Mohamed A, Spring P, Khurana V : Prevalence of chronic inflammatory demyelinating polyneuropathy in New South Wales, Australia. Ann Neurol 46 : 910-913, 1999 https://doi.org/10.1002/1531-8249(199912)46:6<910::AID-ANA14>3.0.CO;2-2
  29. Menkes DL, Hood DC, Ballesteros RA, Williams DA : Root stimulation improves the detection of acquired demyelinating polyneuropathies. Muscle Nerve 21 : 298-308, 1998 https://doi.org/10.1002/(SICI)1097-4598(199803)21:3<298::AID-MUS3>3.0.CO;2-5
  30. Nevo Y : Childhood chronic inflammatory demyelinating polyneuropathy. Eur J Paediatr Neurol 2 : 169-177, 1998 https://doi.org/10.1016/S1090-3798(98)80016-0
  31. Pareyson D : Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci 25 : 72-82, 2004
  32. Plante-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, et al. : The range of chronic demyelinating neuropathy of infancy : a clinico-pathological and genetic study of 15 unrelated cases. J Neurol 248 : 795-803, 2001 https://doi.org/10.1007/s004150170096
  33. Pollard JD : Chronic inflammatory demyelinating polyradiculoneuropathy. Curr Opin Neurol 15 : 279-283, 2002 https://doi.org/10.1097/00019052-200206000-00009
  34. Prineas JW : Pathology of inflammatory demyelinating neuropathies. Baillieres Clin Neurol 3 : 1-24, 1994
  35. Rosen SA, Wang H, Cornblath DR, Uematsu S, Hurko O : Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I. Neurology 39 : 1173-1177, 1989 https://doi.org/10.1212/WNL.39.9.1173
  36. Said G : Chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord 16 : 293-303, 2006 https://doi.org/10.1016/j.nmd.2006.02.008
  37. Schady W, Goulding PJ, Lecky BR, King RH, Smith CM : Massive nerve root enlargement in chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry 61 : 636-640, 1996 https://doi.org/10.1136/jnnp.61.6.636
  38. Shy ME : Charcot-Marie-Tooth disease : an update. Curr Opin Neurol 17 : 579-585, 2004 https://doi.org/10.1097/00019052-200410000-00008
  39. Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ : Hereditary motor and sensory neuropathies : an overview of clinical, genetic, electrophysiologic, and pathologic features in Dyck PJ, Thomas PK (eds) : Peripheral Neuropathy, ed 4. Philadelphia : Elsevier Saunders, 2005, pp1623-1658
  40. Thomas PK, King RH, Small JR, Robertson AM : The pathology of charcot-marie-tooth disease and related disorders. Neuropathol Appl Neurobiol 22 : 269-284, 1996 https://doi.org/10.1111/j.1365-2990.1996.tb01105.x
  41. Uncini A, Parano E, Lange DJ, De Vivo DC, Lovelace RE : Chronic inflammatory demyelinating polyneuropathy in childhood : clinical and electrophysiological features. Childs Nerv Syst 7 : 191-196, 1991 https://doi.org/10.1007/BF00249394
  42. Young P, De Jonghe P, Stogbauer F, Butterfass-Bahloul T : Treatment for Charcot-Marie-Tooth disease. Cochrane Database Syst Rev (1) : CD006052, 2008

Cited by

  1. 만성적 경과관찰을 보이는 Guillain-Barré Syndrome 환자 1례 vol.39, pp.1, 2014, https://doi.org/10.22246/jikm.2018.39.1.76
  2. One‐year follow‐up study of neuropathic pain in chronic inflammatory demyelinating polyradiculoneuropathy vol.24, pp.2, 2019, https://doi.org/10.1111/jns.12318
  3. Gastrointestinal dysfunction in neuroinflammatory diseases: Multiple sclerosis, neuromyelitis optica, acute autonomic ganglionopathy and related conditions vol.232, pp.None, 2014, https://doi.org/10.1016/j.autneu.2021.102795