Preview

Yakut Medical Journal

Advanced search

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. Popova
KrasGMU
Russian 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
North‐Eastern Federal University named after MK Ammosov
Russian Federation

Tappahov Alexey A. ‐doctor‐neurologist Clinic Medical Institute FSAEI VPO

677000, ul. Oiunsky, d. 27, Yakutsk



T. Y. Nikolaeva
North‐Eastern Federal University named after MK Ammosov
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
KrasGMU
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
Красноярский гос. мед. университет
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
GBU Republic Sakha (Yakutia) "Republican Hospital №2‐ Center for Emergency Medical Aid»
Russian Federation

Petrova Alena Y. ‐ neurologist 

677000, Yakutsk, ul. P.Alekseeva 83A



L. T. Okoneshnikova
GBU Republic Sakha (Yakutia) "Republican Hospital №2‐ Center for Emergency Medical Aid»
Russian Federation

Okoneshnikova Lyudmila T., Head of Neurology department

677000, Yakutsk, ul. P.Alekseeva 83A



D. A. Popov
GBU Republic Sakha (Yakutia) "Republican Hospital №2‐ Center for Emergency Medical Aid»
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.

Views: 3


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)