Chronic Inflammatory Demyelinating Polyneuropathy in a Patient with Charcot‐ MARIE‐Tooth (CMT) Disease Type 1A: Case Report
Abstract
We report a patient with chronic inflammatory demyelinating polyneuropathy (CIDP) developed against hereditary motor‐sensory polyneuropathy (Charcot‐Marie‐Tooth disease type 1A). It is shown that the presence of chronic persistent herpes infection, stratifying on the mutation in the gene PMP22 (peripheral myelin protein), may lead to the development of autoimmune process, manifested demyelinating lesions of the peripheral nerves of the limbs and cranial nerves. CIDP – an autoimmune disease characterized by lesions of the myelin sheath of peripheral nerves, it accounts for about 20‐50% of undiagnosed polyneuropathy. The literature discusses the contribution of viruses of the family Herpes Viridae to the development of CIDP. Charcot‐Marie‐Tooth disease (CMT) – a large group of hereditary diseases of the nervous system characterized by chronic progressive weakness and atrophy of distal limb muscles, reduced tendon reflexes, foot deformities and hands, changes in gait and sensory impairments.
About the Authors
T. E. PopovaRussian Federation
Popova Tatyana E. ‐ Ph.D., Associate Professor, Department of Medical Genetics and Clinical Neurophysiology, Institute of Postgraduate Education.
660021, ul. Karl Marx 124, Krasnoyarsk
A. A. Tappakhov
Russian Federation
Tappahov Alexey A. ‐doctor‐neurologist Clinic Medical Institute FSAEI VPO
677000, ul. Oiunsky, d. 27, Yakutsk
T. Y. Nikolaeva
Russian Federation
Nikolayeva Tatiana Y. ‐ Doctor of Medical Sciences, Head of Department of Neurology and Psychiatry Medical Institute
677000, ul. Oiunsky, d. 27, Yakutsk
N. A. Schnayder
Russian Federation
Schneider Natalia A. ‐ MD, Professor, Head of Department of Medical Genetics and Clinical Neurophysiology, Institute of Postgraduate Education KrasGMU
660021, Krasnoyarsk, ul. Karl Marx 124
M. M. Petrova
Russian Federation
Petrova Marina M. ‐ MD, Professor, Head of the Department of outpatient therapy and family medicine postgraduate education KrasGMU
660022, Krasnoyarsk, ul. P. Zheleznyaka, 1
A. Yu. Petrova
Russian Federation
Petrova Alena Y. ‐ neurologist
677000, Yakutsk, ul. P.Alekseeva 83A
L. T. Okoneshnikova
Russian Federation
Okoneshnikova Lyudmila T., Head of Neurology department
677000, Yakutsk, ul. P.Alekseeva 83A
D. A. Popov
Russian Federation
Popov Dygyn A. ‐ doctor of department MRI diagnosis
677000, Yakutsk, ul. P.Alekseeva 83A
References
1. Illarioshkin S.N. Dadali E. L. Fedotov V. P. Ismpilov Sh. M. Kljushnikov S. A. Pirogov V. N. Ivanova‐Smolenskaya I. A. Novaya forma nasledstvennoy nevropatii: bolezn Sharko – Mari – Tuta tipa 2F [The new form of hereditary neuropathy: Charcot‐Marie‐Tooth (CMT) disease 2F] Nervnye bolezni [Neurological diseases]. 2005, Vol. 2, pp. 42–46.
2. Shagina O.A. Dadali E. L. Tiburkova T. E. Ivanova E. A. Polyakov A. V. Osobennosti klinicheskih projavlenij i algoritmy molekuljarno‐geneticheskoj diagnostiki geneticheski geterogennyh varianov nasledstvennyh motorno‐sensornyh polinejropatij [Features of clinical manifestations and algorithms for molecular and genetic diagnosis of genetically heterogeneous variants of hereditary motor‐sensory polyneuropathy] Molekuljarno‐biologicheskie tehnologii v medicinskoj praktike [Molecular and biological technologies in medical practice]. 2009, pp. 183– 193.
3. Popova T.E. Shnayder N. A. Petrova M. M. Dinamika izmenenij vibracionnoj chuvstvitel'nosti po dannym kompjuternoj pallesteziometrii pri priobretennyh i geneticheski determinirovannyh formah polinevropatij klassa mielinopatij [Dynamics of vibration sensitivity changes according to computer pallesthesiometry at acquisition and genetically determined forms of polyneuropathy, class myelinopathy] Sibirskoe medicinskoe obozrenie [Siberial medical review]. 2014, Vol. 4, pp. 69–75.
4. Popova T.E. Shnayder N. A. Petrova M. M. Nikolaeva T. Ya. Preimushhestvenno sensornaja hronicheskaja vospalitelnaja demielinizirujushhaja polinevropatija u 13‐letnej devochki [Sensory predominant chronic inflammatory demyelinating polyneuropathy in 13‐year‐ old girl] Problemy zhenskogo zdorovja [Problems of women’s health]. 2014, Vol. 9, № 4, pp. 73– 79.
5. Bright R.J. Therapeutic options for chronic inflammatory demyelinating polyradiculoneuropathy: a systematic review. / R. J. Bright, J. Wilkinson, B. J. Coventry // BMC Neurol. – 2014. – 14:26.
6. Charcot‐Marie‐Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children / A. Desurkar, J. P. Lin, K. Mills, S. Al‐Sarraj, W. Jan, H. Jungbluth, E. Wraige // Neuropediatrics – 2009. – Vol. 40 – P. 85–88.
7.
8. Charcot‐Marie‐Tooth disease. / E. Buteică, E. Roşulescu, B. Stănoiu, F. Burada, C. Stănoiu, M. Zăvăleanu / Rom. J. Morphol. Embryol. – 2008 ‐ Vol. 49 ‐ №1 ‐ P. 115‐119.
9. Childhood chronic inflammatory demyelinating polyneuroradiculopathy‐‐three cases and a review of the literature. / A. G. M. Riekhoff, C. Jadoul, R. Mercelis, P. Cras, B. P. G. M. Ceulemans // Eur. J. Paediatr. Neurol. – 2012. – Vol. 16 – P. 315–31.
10. Coexistence of two chronic neuropathies in a young child: Charcot‐Marie‐Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy / W. Marques, C. A. R. Funayama, J. B. Secchin, C. M. Lourenço, S. P. Gouvêa, V. D. Marques, P. G. Bastos, A. A. Barreira // Muscle Nerve ‐ 2010. ‐ Vol. 42 ‐ P. 598‐600
11. Coexistent hereditary and inflammatory neuropathy / L. Ginsberg, O. Malik, A. R. Kenton, D. Sharp, J. R. Muddle, M. B. Davis, J. B. Winer, R. W. Orrell, R. H. M. King // Brain – 2004. – Vol. 127 – № 1 – P. 193–202.
12. Corticosteroid‐ responsive asymmetric neuropathy with a myelin protein zero gene mutation / M. Watanabe, N. Yamamoto, N. Ohkoshi, H. Nagata, Y. Kohno, A. Hayashi, A. Tamaoka, S. Shoji // Neurology ‐ 2002. ‐ Vol. 59 ‐ P. 767‐769.
13. Dalakas M.C. Clinical trials in CIDP and chronic autoimmune demyelinating polyneuropathies // J. Peripher. Nerv. Syst. – 2012. – Vol. 17. – P. 34–39.
14. DNA duplication associated with Charcot‐Marie‐Tooth disease type 1A. / J. R. Lupski, R. M. de Oca‐Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, B. J. Trask, O. Saucedo‐Cardenas, D. F. Barker, J. M. Killian, C. A. Garcia, A. Chakravarti, P. I. Patel // Cell – 1991. – Vol. 66 – P. 219–232.
15. Dysregulated Epstein‐Barr virus infection in patients with CIDP / J. D. Lünemann, B. Tackenberg, A. Stein, K. P. Wandinger, W. H. Oertel, H. J. Wagner, C. Münz, H. Meisel, N. Sommer, F. Zipp // J. Neuroimmunol. – 2010. – Vol. 218 – P. 107–111.
16. Fee D.B. Resolution of chronic inflammatory demyelinating polyneuropathy‐associated central nervous system lesions after treatment with intravenous immunoglobulin / D. B. Fee, J. O. Fleming // J. Peripher. Nerv. Syst. – 2003. – Vol. 8 – P. 155–158.
17. Gabriel C. Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a) / C. Gabriel, N. Gregson, N. Wood, R. Hughes // J. Neurol. Neurosurg. Psychiatry – 2002. – Vol. 72 – 230–235с.
18. Gorson K.C. An update on the management of chronic inflammatory demyelinating polyneuropathy / K. C. Gorson // Ther. Adv. Neurol. Disord. – 2012. – Vol. 5 – P. 359–373.
19. Köller H. Chronic inflammatory demyelinating polyneuropathy. / H. Köller, B. C. Kieseier, S. Jander, H.‐P. Hartung // N. Engl. J. Med. – 2005. – Vol. 352 – P. 1343–1356.
20. Lewis R.A. Chronic Inflammatory Demyelinating Polyneuropathy // Neurol. Clin. – 2007. – Vol. 25. – P. 71–87.
21. Oh S.J. Subacute inflammatory demyelinating polyneuropathy. / S. J. Oh, K. Kurokawa, D. F. de Almeida, H. F. Ryan, G. C. Claussen // Neurology – 2003. – Vol. 61 – P. 1507–1512.
22. Rotta F.T. The spectrum of chronic inflammatory demyelinating polyneuropathy. / F. T. Rotta, A. T. Sussman, W. G. Bradley, D. Ram Ayyar, K. R. Sharma, R. T. Shebert // J. Neurol. Sci. ‐ 2000. ‐ Vol. 173 ‐ P. 129‐139.
23. Stojkovic T. Visual evoked potentials study in chronic idiopathic inflammatory demyelinating polyneuropathy / T. Stojkovic, J. de Seze, J. F. Hurtevent, C. Arndt, A. Beaume, J. C. Hache, P. Vermersch // Clin. Neurophysiol. – 2000. – Vol. 111 – 2285–2291с.
Review
For citations:
Popova T.E., Tappakhov A.A., Nikolaeva T.Y., Schnayder N.A., Petrova M.M., Petrova A.Yu., Okoneshnikova L.T., Popov D.A. Chronic Inflammatory Demyelinating Polyneuropathy in a Patient with Charcot‐ MARIE‐Tooth (CMT) Disease Type 1A: Case Report. Yakut Medical Journal. 2015;(4):106-109.