Doença de Charcot-Marie-Tooth associada a malformação de Klippel-Feil: registro de um caso e revisão da literatura

Viegas, Carlos A. de Assis

doi:10.1590/S0004-282X1980000200013

Resumos

Depois de caracterizar a doença de Charcot-Marie-Tooth e a malformação de Klippel-Feil, o autor relata um caso em que ambas estão associadas e procede a uma revisão da literatura pertinente, apresentando múltiplas possibilidades de associação de uma e outra com diversos entidades mórbidas.

Initially the author characterises Charcot-Marie-Tooth's disease and Klippel-Feil's syndrome and reports a case in which both these conditions were associated. A review of the concerning literature showing the several possibilities of association of eitherone with another nosological conditions is reported.

Doença de Charcot-Marie-Tooth associada a malformação de Klippel-Feil: registro de um caso e revisão da literatura

Charcot-Marie-Tooth's disease associated with Klippel-Feil's syndrome: a case report and review of the literatura

Carlos A. de Assis Viegas

Residente de Clínica Médic. Hospital Escola da Universidade de Brasília

RESUMO

Depois de caracterizar a doença de Charcot-Marie-Tooth e a malformação de Klippel-Feil, o autor relata um caso em que ambas estão associadas e procede a uma revisão da literatura pertinente, apresentando múltiplas possibilidades de associação de uma e outra com diversos entidades mórbidas.

SUMMARY

Initially the author characterises Charcot-Marie-Tooth's disease and Klippel-Feil's syndrome and reports a case in which both these conditions were associated. A review of the concerning literature showing the several possibilities of association of eitherone with another nosological conditions is reported.

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Trabalho realizado no Hospital Escola da Universidade de Brasília.

Hospital de Sobradinho - Quadra 12, Area Especial - 73000 - Sobradinho, DF - Brasil.

1. BELLINA, J. H. & DEMING, B. - Charcot-Marie-Tooth disease and pregnancy: report of a case. J. State Med. Soc. 125:393, 1973.
2. BERKE, J. P. - Craniofacial dysostosis with syringomyelia and associated anomalies. Arch. Neurol. (Chicago), 33:63, 1976.
3. BRIK, M. & ATHAYDE, A. - Bilateral Duane's syndrome, paroxysmal lacrimation and Klippel-Feil's anomaly. Ophthalmologica 167:1, 1973.
4. BROUDEUR, P.; AUBERT, L.; ARROYO, H. & MOUREN, P. - Syndrome de Klippel-Feil avec pterygium colli chez un Turner-male. Marseille Méd., 110, 1973.
5. COOPER, J. C. - The Klieppel-Feil's syndrome. Brit. Dent. J. 140:264, 1976.
6. DELWAIDE, P. J. & SCHDENEN, J. - Non-hypertrophic familial neuropathy associated with intention tremor. J. Neurol. Sci. 27:59, 1976.
7. FALK, R. H. ã MacKNNON, J. ~ Klippel-Feil's syndrome associated with aortic coarctation. British Heart J. 38:1220, 1976.
8. GONÇALVES, A. & BARROS DA SILVA, J. - Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com jppssivel variante do fenômeno da antecipação. Arq. Neuro-Psiquiat. (S&o Paulo) 35:167, 1977.
9. HENSINGER, R. N. - Klippel-Feil's syndrome: a constellation of associated anomalies. J. Bone Joint Surg. 56-A-1246, 1974.
10. HENSINGER, R. N. & MacEVEN, G. D. - Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich s ataxia, familial dysautonomia and Charcot-Marie-Tooth ^Is disease. J. Bone Joint Surg. 58-A:13, 1976.
11. JULIEN, J.; VITAL, C; VALLAT, J. M.; COQUET, M. & LE BLANC, M. - Maladie de Charcot-Marie-Tooth et diabete. Nouv. Prêsse Méd. 3:139, 1974.
12. KELTNER, J. A.; SWISHER, C. N. & GAY, A. J. - Myotonic pupils in Charcot-Marie-Tooth's disease. Arch. Ophtal. 93:1141, 1975.
13. KEWALPARAMANI, L. S.; RIGGINS, R. S. & FOWLER, W. M. Jr. - Schenermann'e kipho-scoliosis associated with Charcot-Marie-Tooth's syndrome. Arch. Phys. Med. Rehabil. 57:391, 1976.
14. KILIMOV, N. - Charcot-Marie-Tooth neural muscular atrophy with pupillary anomalies. Europ. Neurol. 10:292, 1973.
15. KREMENITZER, M.; AGER, P. J. & ZINGESSER, L. H. - Myelographic evidence for nerve root enlargement in a case of Charcot-Marie-Tooth's disease, Neuroradiology 11:165, 1976.
16. LEVY, J. A. - Moléstia de Charcot-Marie-Tooth. Arq. Neuro-Psiquiat. (São Paulo), 20:131, 1962.
17. MacEWEN, D. - The Klippel-Feil's syndrome. J. Bone Joint. Surg. 57-B:261, 1975.
18. MATHEUS, T. J. & MOONY, J. - Mixed glioma, multiple sclerosis and Charcot-Marie-Tooth's disease. Arch. Neurol. (Chicago), 27:263, 1972.
19. McLEDO, J. G.; LOW, P. A. & MORGAN, J. A. - A family with Charcot-Marie-Tooth's disease and Leber's optic atrophy. Proc. Aust. Assoc. Neurol. 12:23, 1975.
20. MEIER, C. & BISCHOFF, A. - Focal mucoid degeneration of peripheral nerve. Acta Neuropathol. (Berlin), 37:69, 1977.
21. MOORE, W. B. - Genito-urinary anomalies associated with Klippel-Feil's syndrome. J. Bone Joint Surg. 57-A :355, 1975.
22. NOCENTINI, P.; PIAZZESI, W. & PACE, M. - Indagine citogenetica sul componenti di una famiglia affetti de Charcot-Marie-Tooth con megaesofago acalasico. Surg. Italy, 1:271, 1971.
23. PARK, I. J.; JONES, H. W. & MAGER, G. T. - A new syndrome in two unrelated females: Klippel-Feil's deformity, conductive deafness and absent vagine. Defects 7:311, 1971.
24. PEftA YAftEZ, A.; RAYA MUfirNOZ, J.; RICO IRLES, J. & GOMEZ VALVERDE, E. - Un caso esporádico de enfermedade de Charcot-Marie-Tooth. con oligofrenia y epilepsia. Rev. Clin. Esp. 135:65, 1974.
25. SALICHS, P. - Unusual motor conduction velocity values in Charcot-Marie-Tooth's disease associate with essential tremor: report of a kinship. Europ. Neurol. 13: 377, 1975.
26. SALISACHS, P. - Charcot-Marie-Tooth's disease associated with ⁴⁴essential tremor": report of 7 cases and a review of the literature. J. Neurol. Sci. 28:17, 1976.
27. SHERK, H. H.; SHUT, L. & CHUNG, S. - Iniencephalic deformity of the cervical spine with Klippel-Feil's anomalies and congenital elevation of the scapula. J Bone Joint Surg. 56-A :1254, 1974.
28. STRAK, T. E. & BARAW, E. - Traumatic quadriplegia associated with Klippel-Feil's syndrome: discussion and case reports. Arch. Phya Med. Rehabil. 56:363, 1975.
29. VASILESCU, C. & FLORESCU, A. - Motor and sensory conduction velocity in Charcot-Marie-Tooth's disease. J. Neurol. (Berlin), 214-305, 1977.
30. WEERDT, C. J. & HEERSPINK, V. - Family with Charcot-Marie-Tooth's disease showing unusual biochemical-clinical and genetic feature. Europ. Neurol. 12:253,
31. ZOLOG, N.; LEIBOVICI, M. & NEMOIANU, V. - Cataracte evoluant dans le cadre d'un syndrome comiplexe de myosite ossifiante progressive avec des symptomes du syndrome de Klippel-Feil. Oto-Neuro-Opthal. 48:335, 1976.

Datas de Publicação

Publicação nesta coleção
23 Ago 2012
Data do Fascículo
Jun 1980

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

[1] 1. BELLINA, J. H. & DEMING, B. - Charcot-Marie-Tooth disease and pregnancy: report of a case. J. State Med. Soc. 125:393, 1973.

[2] 2. BERKE, J. P. - Craniofacial dysostosis with syringomyelia and associated anomalies. Arch. Neurol. (Chicago), 33:63, 1976.

[3] 3. BRIK, M. & ATHAYDE, A. - Bilateral Duane's syndrome, paroxysmal lacrimation and Klippel-Feil's anomaly. Ophthalmologica 167:1, 1973.

[4] 4. BROUDEUR, P.; AUBERT, L.; ARROYO, H. & MOUREN, P. - Syndrome de Klippel-Feil avec pterygium colli chez un Turner-male. Marseille Méd., 110, 1973.

[5] 5. COOPER, J. C. - The Klieppel-Feil's syndrome. Brit. Dent. J. 140:264, 1976.

[6] 6. DELWAIDE, P. J. & SCHDENEN, J. - Non-hypertrophic familial neuropathy associated with intention tremor. J. Neurol. Sci. 27:59, 1976.

[7] 7. FALK, R. H. ã MacKNNON, J. ~ Klippel-Feil's syndrome associated with aortic coarctation. British Heart J. 38:1220, 1976.

[8] 8. GONÇALVES, A. & BARROS DA SILVA, J. - Irmandade afetada pela atrofia muscular peroneal de Charcot-Marie-Tooth com jppssivel variante do fenômeno da antecipação. Arq. Neuro-Psiquiat. (S&o Paulo) 35:167, 1977.

[9] 9. HENSINGER, R. N. - Klippel-Feil's syndrome: a constellation of associated anomalies. J. Bone Joint Surg. 56-A-1246, 1974.

[10] 10. HENSINGER, R. N. & MacEVEN, G. D. - Spinal deformity associated with heritable neurological conditions: spinal muscular atrophy, Friedreich s ataxia, familial dysautonomia and Charcot-Marie-Tooth ^Is disease. J. Bone Joint Surg. 58-A:13, 1976.

[11] 11. JULIEN, J.; VITAL, C; VALLAT, J. M.; COQUET, M. & LE BLANC, M. - Maladie de Charcot-Marie-Tooth et diabete. Nouv. Prêsse Méd. 3:139, 1974.

[12] 12. KELTNER, J. A.; SWISHER, C. N. & GAY, A. J. - Myotonic pupils in Charcot-Marie-Tooth's disease. Arch. Ophtal. 93:1141, 1975.

[13] 13. KEWALPARAMANI, L. S.; RIGGINS, R. S. & FOWLER, W. M. Jr. - Schenermann'e kipho-scoliosis associated with Charcot-Marie-Tooth's syndrome. Arch. Phys. Med. Rehabil. 57:391, 1976.

[14] 14. KILIMOV, N. - Charcot-Marie-Tooth neural muscular atrophy with pupillary anomalies. Europ. Neurol. 10:292, 1973.

[15] 15. KREMENITZER, M.; AGER, P. J. & ZINGESSER, L. H. - Myelographic evidence for nerve root enlargement in a case of Charcot-Marie-Tooth's disease, Neuroradiology 11:165, 1976.

[16] 16. LEVY, J. A. - Moléstia de Charcot-Marie-Tooth. Arq. Neuro-Psiquiat. (São Paulo), 20:131, 1962.

[17] 17. MacEWEN, D. - The Klippel-Feil's syndrome. J. Bone Joint. Surg. 57-B:261, 1975.

[18] 18. MATHEUS, T. J. & MOONY, J. - Mixed glioma, multiple sclerosis and Charcot-Marie-Tooth's disease. Arch. Neurol. (Chicago), 27:263, 1972.

[19] 19. McLEDO, J. G.; LOW, P. A. & MORGAN, J. A. - A family with Charcot-Marie-Tooth's disease and Leber's optic atrophy. Proc. Aust. Assoc. Neurol. 12:23, 1975.

[20] 20. MEIER, C. & BISCHOFF, A. - Focal mucoid degeneration of peripheral nerve. Acta Neuropathol. (Berlin), 37:69, 1977.

[21] 21. MOORE, W. B. - Genito-urinary anomalies associated with Klippel-Feil's syndrome. J. Bone Joint Surg. 57-A :355, 1975.

[22] 22. NOCENTINI, P.; PIAZZESI, W. & PACE, M. - Indagine citogenetica sul componenti di una famiglia affetti de Charcot-Marie-Tooth con megaesofago acalasico. Surg. Italy, 1:271, 1971.

[23] 23. PARK, I. J.; JONES, H. W. & MAGER, G. T. - A new syndrome in two unrelated females: Klippel-Feil's deformity, conductive deafness and absent vagine. Defects 7:311, 1971.

[24] 24. PEftA YAftEZ, A.; RAYA MUfirNOZ, J.; RICO IRLES, J. & GOMEZ VALVERDE, E. - Un caso esporádico de enfermedade de Charcot-Marie-Tooth. con oligofrenia y epilepsia. Rev. Clin. Esp. 135:65, 1974.

[25] 25. SALICHS, P. - Unusual motor conduction velocity values in Charcot-Marie-Tooth's disease associate with essential tremor: report of a kinship. Europ. Neurol. 13: 377, 1975.

[26] 26. SALISACHS, P. - Charcot-Marie-Tooth's disease associated with ⁴⁴essential tremor": report of 7 cases and a review of the literature. J. Neurol. Sci. 28:17, 1976.

[27] 27. SHERK, H. H.; SHUT, L. & CHUNG, S. - Iniencephalic deformity of the cervical spine with Klippel-Feil's anomalies and congenital elevation of the scapula. J Bone Joint Surg. 56-A :1254, 1974.

[28] 28. STRAK, T. E. & BARAW, E. - Traumatic quadriplegia associated with Klippel-Feil's syndrome: discussion and case reports. Arch. Phya Med. Rehabil. 56:363, 1975.

[29] 29. VASILESCU, C. & FLORESCU, A. - Motor and sensory conduction velocity in Charcot-Marie-Tooth's disease. J. Neurol. (Berlin), 214-305, 1977.

[30] 30. WEERDT, C. J. & HEERSPINK, V. - Family with Charcot-Marie-Tooth's disease showing unusual biochemical-clinical and genetic feature. Europ. Neurol. 12:253,

[31] 31. ZOLOG, N.; LEIBOVICI, M. & NEMOIANU, V. - Cataracte evoluant dans le cadre d'un syndrome comiplexe de myosite ossifiante progressive avec des symptomes du syndrome de Klippel-Feil. Oto-Neuro-Opthal. 48:335, 1976.