Coreoatetose paroxística cinesiogênica: relato de um caso tratado com carbamazepina

Carrilho, P.E.M.; Barbosa, E.R.; Haddad, M.S.; Comerlatti, L.R.; Limongi, J.C.P.; Scaff, M.

doi:10.1590/S0004-282X1994000300022

Resumos

A coreatetose paroxistica (CP) é entidade rara. Até mesmo profissionais que estudam desordens do movimento não costumam vê-la com freqüência. A ocorrência paroxística de movimentos distônicos, coréicos e atetósicos é a apresentação típica da síndrome. O início costuma ser abrupto e os ataques podem durar de alguns segundos até horas. Casos esporádicos e, mais frequentemente, casos familiares têm sido relatados. A abordagem terapêutica com anticonvulsivantes, como a carbamazepina, nem sempre tem sucesso. Com esta droga, porém, geralmente há boa resposta na variante cinesiogênica da CP. É relatado o caso de um paciente jovem do sexo masculino com essa variante da CP. O início da doença se deu na puberdade. O exame neurológico era normal entre os ataques. A investigação laboratorial, EEG, TC de crânio e RNM de segmento cefálico foram normais. Carbamazepina em doses baixas (100 mg/dia) foi eficaz no manejo dos ataques.

coreoatetose; paroxistica; cinesiogênica; anticonvulsivantes; carbamazepina

Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disordes do not find it easily. Paroxysmal occurence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsivant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.

choreoathetosis; paroxysmal; kinesigenic; anticonvulsivants; carbamazepine

Coreoatetose paroxística cinesiogênica: relato de um caso tratado com carbamazepina

Kinesigenic paroxysmal choreoathetosis: report of a case treated with carbamazepina

P.E.M. Carrilho; E.R. Barbosa, M.S. Haddad; L.R. Comerlatti; J.C.P. Limongi; M. Scaff

Clínica Neurológica do Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

RESUMO

A coreatetose paroxistica (CP) é entidade rara. Até mesmo profissionais que estudam desordens do movimento não costumam vê-la com freqüência. A ocorrência paroxística de movimentos distônicos, coréicos e atetósicos é a apresentação típica da síndrome. O início costuma ser abrupto e os ataques podem durar de alguns segundos até horas. Casos esporádicos e, mais frequentemente, casos familiares têm sido relatados. A abordagem terapêutica com anticonvulsivantes, como a carbamazepina, nem sempre tem sucesso. Com esta droga, porém, geralmente há boa resposta na variante cinesiogênica da CP. É relatado o caso de um paciente jovem do sexo masculino com essa variante da CP. O início da doença se deu na puberdade. O exame neurológico era normal entre os ataques. A investigação laboratorial, EEG, TC de crânio e RNM de segmento cefálico foram normais. Carbamazepina em doses baixas (100 mg/dia) foi eficaz no manejo dos ataques.

Palavras-chave: coreoatetose, paroxistica, cinesiogênica, anticonvulsivantes, carbamazepina.

SUMMARY

Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disordes do not find it easily. Paroxysmal occurence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsivant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.

Key words: choreoathetosis, paroxysmal, kinesigenic, anticonvulsivants, carbamazepine.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Aceite: 10-dezembro-1993.

Dr. Paulo Eduardo Mestrinelli Carrilho - Clínica Neurológica, Hospital das Clínicas, FMUSP - Caixa Postal 8091 - 01065-970 São Paulo SP - Brasil.

1. Angelini L, Rumi V, Lamperti E, Nardocci N. Transient paroxysmal dystonia in infancy. Neuropediatrics 1988, 19: 171-174.
2. Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia: a sleep responsive disorder. J Neurol Neurosurg Psychiatry 1991, 54: 1090-1092.
3. Casella EB, Caseia LB, Correa F. Torcicolo paroxístico benigno da infância. Arq Neuropsiquiatr 1993, 51 (Supl):22.
4. Fahn S. The paroxysmal dyskynesias. Lecture. Movement disorders course. American Academy of Neurology, April 1990, p 101-128.
5. Fischbeck LH, Layzer RB. Paroxysmal choreoathetosis associated with thyrotoxicosis. Ann Neurol 1979, 6: 453-454.
6. Gilroy J. Abnormal computed tomograms in paroxysmal kinesigenic choreoathetosis. Arch Neurol 1982, 39: 779-780.
7. Goodenough DJ, Fariello RG, Annis BL et al. Familial and acquired paroxysmal dyskynesias: a proposed classification with delineation of clinical features. Arch Neurol 1978, 35: 827-831.
8. Gowers W R. Epilepsy and other chronic convulsive diseases. Their cause, symptoms and treatment. (Reprint of 1885 edition) New York: Doves, 1964: p 75-76.
9. Jacome DE, Risko M. Photic induced driven PLEDS in paroxysmal dystonic choreoathetosis. Clin Electroenc 1984, 15: 151-154.
10. Kato M, Araki S. Paroxysmal kinesigenic choreoathetosis: report of a case relieved by carbamazepine. Arch Neurol 1969, 20: 508-513.
11. Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967, 17: 680-690.
12. Kinast M, Erenberg G, Rothner D. Paroxysmal choreoathetosis: report of five cases and review of literature. Pediatrics 1980, 65: 74-77
13. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977, 2: 285-293.
14. Lugaresi E, Cirignotta F, Montagna P. Hypnogenic paroxysmal dystonia: epileptic seizures or a new syndrome? Sleep 1981, 4: 129-138.
15. Mount LA, Reback S. Familial paroxysmal choreoathetosis.Arch. Neurol Psychiat 1940, 44: 841-847.
16. Perlmutter JS, Raichle ME. Pure hemidystonia with basal ganglion abnormalities on positron-emission tomography. Ann Neurol 1984, 15: 228-233.
17. Richards RN, Barnett HJ. Paroxysmal dystonic choreoathetosis: a family study and review of the literature. Neurology 1968, 18: 461-469.
18. Richardson JC, Chambers RA, Heywood PM. Kinesigenic choreoathetosis due to brain injury. Can J Neurol Sci 1987, 14: 626-628.
19. Richardson JC, Chambers RA, Heywood PM. Encephalopathies of anoxia and hypoglycemia. Arch Neurol 1959, 1: 178-189.
20. Rose JA. Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy. Arch Neurol 1964,11:385.
21. Snyder CH. Paroxysmal torcicollis in infancy. Am J Dis Child 1969, 117: 458-460.
22. Spiller WG. Subcortical epilepsy. Brain 1927, 50: 171-187.
23. Sterling W. Le type spasmodique tetanoid et tetaniform de l'encephalite epidemique remarques sur l'epilepsie "extra-pyramidale". Revue Neurol 1924, 2: 484-492.
24. Suber DA, Riley TL. Valproic acid and normal computerized tomographic scan in kinesigenic familial paroxysmal choreoathetosis. Arch Neurol 1980, 37: 327.
25. Tabaee-Zadeh MJ, Frame B, Kapphain K. Kinesiogenic choreoathetosis and idiopathic hypoparathyroidism.N Engl J Med 1972, 286: 762.
26. Watson RT, Scott WR. Paroxysmal kinesigenic choreoathetosis and brain stem atrophy. Arch Neurol 1979, 36: 522.
27. Weiner WJ, Lang AE. Other choreas and miscellaneous dyskinesias. In Weiner WJ, Lang AE ( eds). Movement disorders: a comprehensive survey. New York: Futura, 1989, p 569-597.
28. Wimmer A. Etudes sur les syndromes extra pyramidaux: spasme de torsion infantile debutant par crises d'hemispasmes toniques (epilepsie striee). Rev Neurol 1925, 32: 281-295.
29. Whitty CWM, Lishman WA, Fitzgibbon JP. Sezures induced by movement: a form of reflex epilepsy. Lancet 1964, 1: 1403-1406.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Set 1994

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

[1] 1. Angelini L, Rumi V, Lamperti E, Nardocci N. Transient paroxysmal dystonia in infancy. Neuropediatrics 1988, 19: 171-174.

[2] 2. Byrne E, White O, Cook M. Familial dystonic choreoathetosis with myokymia: a sleep responsive disorder. J Neurol Neurosurg Psychiatry 1991, 54: 1090-1092.

[3] 3. Casella EB, Caseia LB, Correa F. Torcicolo paroxístico benigno da infância. Arq Neuropsiquiatr 1993, 51 (Supl):22.

[4] 4. Fahn S. The paroxysmal dyskynesias. Lecture. Movement disorders course. American Academy of Neurology, April 1990, p 101-128.

[5] 5. Fischbeck LH, Layzer RB. Paroxysmal choreoathetosis associated with thyrotoxicosis. Ann Neurol 1979, 6: 453-454.

[6] 6. Gilroy J. Abnormal computed tomograms in paroxysmal kinesigenic choreoathetosis. Arch Neurol 1982, 39: 779-780.

[7] 7. Goodenough DJ, Fariello RG, Annis BL et al. Familial and acquired paroxysmal dyskynesias: a proposed classification with delineation of clinical features. Arch Neurol 1978, 35: 827-831.

[8] 8. Gowers W R. Epilepsy and other chronic convulsive diseases. Their cause, symptoms and treatment. (Reprint of 1885 edition) New York: Doves, 1964: p 75-76.

[9] 9. Jacome DE, Risko M. Photic induced driven PLEDS in paroxysmal dystonic choreoathetosis. Clin Electroenc 1984, 15: 151-154.

[10] 10. Kato M, Araki S. Paroxysmal kinesigenic choreoathetosis: report of a case relieved by carbamazepine. Arch Neurol 1969, 20: 508-513.

[11] 11. Kertesz A. Paroxysmal kinesigenic choreoathetosis: an entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967, 17: 680-690.

[12] 12. Kinast M, Erenberg G, Rothner D. Paroxysmal choreoathetosis: report of five cases and review of literature. Pediatrics 1980, 65: 74-77

[13] 13. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977, 2: 285-293.

[14] 14. Lugaresi E, Cirignotta F, Montagna P. Hypnogenic paroxysmal dystonia: epileptic seizures or a new syndrome? Sleep 1981, 4: 129-138.

[15] 15. Mount LA, Reback S. Familial paroxysmal choreoathetosis.Arch. Neurol Psychiat 1940, 44: 841-847.

[16] 16. Perlmutter JS, Raichle ME. Pure hemidystonia with basal ganglion abnormalities on positron-emission tomography. Ann Neurol 1984, 15: 228-233.

[17] 17. Richards RN, Barnett HJ. Paroxysmal dystonic choreoathetosis: a family study and review of the literature. Neurology 1968, 18: 461-469.

[18] 18. Richardson JC, Chambers RA, Heywood PM. Kinesigenic choreoathetosis due to brain injury. Can J Neurol Sci 1987, 14: 626-628.

[19] 19. Richardson JC, Chambers RA, Heywood PM. Encephalopathies of anoxia and hypoglycemia. Arch Neurol 1959, 1: 178-189.

[20] 20. Rose JA. Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy. Arch Neurol 1964,11:385.

[21] 21. Snyder CH. Paroxysmal torcicollis in infancy. Am J Dis Child 1969, 117: 458-460.

[22] 22. Spiller WG. Subcortical epilepsy. Brain 1927, 50: 171-187.

[23] 23. Sterling W. Le type spasmodique tetanoid et tetaniform de l'encephalite epidemique remarques sur l'epilepsie "extra-pyramidale". Revue Neurol 1924, 2: 484-492.

[24] 24. Suber DA, Riley TL. Valproic acid and normal computerized tomographic scan in kinesigenic familial paroxysmal choreoathetosis. Arch Neurol 1980, 37: 327.

[25] 25. Tabaee-Zadeh MJ, Frame B, Kapphain K. Kinesiogenic choreoathetosis and idiopathic hypoparathyroidism.N Engl J Med 1972, 286: 762.

[26] 26. Watson RT, Scott WR. Paroxysmal kinesigenic choreoathetosis and brain stem atrophy. Arch Neurol 1979, 36: 522.

[27] 27. Weiner WJ, Lang AE. Other choreas and miscellaneous dyskinesias. In Weiner WJ, Lang AE ( eds). Movement disorders: a comprehensive survey. New York: Futura, 1989, p 569-597.

[28] 28. Wimmer A. Etudes sur les syndromes extra pyramidaux: spasme de torsion infantile debutant par crises d'hemispasmes toniques (epilepsie striee). Rev Neurol 1925, 32: 281-295.

[29] 29. Whitty CWM, Lishman WA, Fitzgibbon JP. Sezures induced by movement: a form of reflex epilepsy. Lancet 1964, 1: 1403-1406.