Síndrome de Isaacs: registro de um caso e revisão da literatura

Silva, Amauri Batista da; Japp, Hans Heinrich; Saldanha, Antonio de Padua D.; Henriques, Fernando Guilhon

doi:10.1590/S0004-282X1977000200006

Resumos

É relatado o caso de um paciente de 17 anos, sofrendo desde a idade de 4 anos de enfermidade caracterizada por rigidez progressiva dos membros inferiores, descontração muscular lenta, mioquimias nas coxas, nádegas e panturrilhas, além de espasmos musculares intermitentes, sobretudo após esforço físico, dolorosos nos membros inferiores, acompanhados de sudorese profusa. A avaliação bioquímica e a biópsia muscular foram normais. A eletromiografia revelava atividade contínua de fibra muscular que persistia mesmo após a tentativa de relaxamento muscular. Não havia miotonia espontânea, provocada nem eletro-miograficamente. Paciente reagiu muito bem ao uso de carbamazepina. Fato curioso é a constatação de que a flexão cervical provoca abolição das mioquimias dos quadriceps, enquanto a extensão tem efeito oposto. Os autores acreditam tratar-se de processo semelhante ao descrito inicialmente por Isaacs, em 1961, sob o nome de "síndrome da atividade contínua das fibras musculares". É feita extensa revisão da literatura pertinente.

The case of a 17-year-old boy who had been well until the age of four when progressive stiffness of lower limbs developed is reported. Soon walking became dificult and on his thighs, buttocks and calves one could notice the appearance of myokymia. Painful and intermittent spasms were often present speccially after physical strain. This was followed by profuse sweating. Strenght was normal but muscle relaxing was slow mainly in the quadriceps. The familiar history for neuromuscular pathology was negative. Muscle enzymes, thyroid function tests were within normal limits and muscular biopsy showed no abnormalities. The EMG disclosed a permanent spontaneous activity, more evident in the quadriceps, which was normal in shape, amplitude and duration. In association to this activity multiplets discharges and low motor units were also observed; an interferencial pattern appeared at maximum contraction but the multiplets and low motor units potentials kept on showing even though voluntary muscular activity had ceased. The therapeutic essay with carbamazepin had a dramatic effect upon the course of the patient's conditions. He showed a great improvement with this drug and today leads a normal life being able even to play soccer and ride a bycicle. An interesting remark which should be done is the fact that the flexion of the neck inhitibs the quadriceps myokymia whereas the extension makes them to appear and even worsen. Unfortunately is was not possible to carry out a more accurate investigation concerning electropharmacology and hystopathology as the patient was uncooperative and refused to undergo such examinations. However the authors believe that this clinical picture can be considered as a case of "continous muscle-fibre activity" due to the great similarity it bears to the cases related by Isaacs in 1961. An extensive review concerning the pertinent literature has been done.

Síndrome de Isaacs: registro de um caso e revisão da literatura

Isaac's syndrome: a case report and review of literature

Amauri Batista da Silva^I; Hans Heinrich Japp^II; Antonio de Padua D. Saldanha^III; Fernando Guilhon Henriques^IV

^INeurologista. Unidade de Neurologia do lº Hospital Distrital de Brasília

^IINeuropatologista. Unidade de Neurologia do lº Hospital Distrital de Brasília

^IIIResidente. Unidade de Neurologia do lº Hospital Distrital de Brasília

^IVChefe da Unidade. Unidade de Neurologia do lº Hospital Distrital de Brasília

RESUMO

É relatado o caso de um paciente de 17 anos, sofrendo desde a idade de 4 anos de enfermidade caracterizada por rigidez progressiva dos membros inferiores, descontração muscular lenta, mioquimias nas coxas, nádegas e panturrilhas, além de espasmos musculares intermitentes, sobretudo após esforço físico, dolorosos nos membros inferiores, acompanhados de sudorese profusa. A avaliação bioquímica e a biópsia muscular foram normais. A eletromiografia revelava atividade contínua de fibra muscular que persistia mesmo após a tentativa de relaxamento muscular. Não havia miotonia espontânea, provocada nem eletro-miograficamente. Paciente reagiu muito bem ao uso de carbamazepina. Fato curioso é a constatação de que a flexão cervical provoca abolição das mioquimias dos quadriceps, enquanto a extensão tem efeito oposto. Os autores acreditam tratar-se de processo semelhante ao descrito inicialmente por Isaacs, em 1961, sob o nome de "síndrome da atividade contínua das fibras musculares". É feita extensa revisão da literatura pertinente.

SUMMARY

The case of a 17-year-old boy who had been well until the age of four when progressive stiffness of lower limbs developed is reported. Soon walking became dificult and on his thighs, buttocks and calves one could notice the appearance of myokymia. Painful and intermittent spasms were often present speccially after physical strain. This was followed by profuse sweating. Strenght was normal but muscle relaxing was slow mainly in the quadriceps. The familiar history for neuromuscular pathology was negative. Muscle enzymes, thyroid function tests were within normal limits and muscular biopsy showed no abnormalities. The EMG disclosed a permanent spontaneous activity, more evident in the quadriceps, which was normal in shape, amplitude and duration. In association to this activity multiplets discharges and low motor units were also observed; an interferencial pattern appeared at maximum contraction but the multiplets and low motor units potentials kept on showing even though voluntary muscular activity had ceased.

The therapeutic essay with carbamazepin had a dramatic effect upon the course of the patient's conditions. He showed a great improvement with this drug and today leads a normal life being able even to play soccer and ride a bycicle. An interesting remark which should be done is the fact that the flexion of the neck inhitibs the quadriceps myokymia whereas the extension makes them to appear and even worsen.

Unfortunately is was not possible to carry out a more accurate investigation concerning electropharmacology and hystopathology as the patient was uncooperative and refused to undergo such examinations. However the authors believe that this clinical picture can be considered as a case of "continous muscle-fibre activity" due to the great similarity it bears to the cases related by Isaacs in 1961. An extensive review concerning the pertinent literature has been done.

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Trabalho da Unidade de Neurologia do lº Hospital Distrital de Brasília.

1º Hospital Distrital - Unidade Neurologia - 70000 Brasília, D. F. - Brasil.

1. GARDNER-MEDWIN, D. & WALTON, J. N. - Myokymia with impaired muscular relation. Lancet 1:127, 1969.
2. GREENHOUSE, A. H.; BICKNELL, J. M.; PESCH, R. N. & SEELINGER, D. F. - Myotonia, myokymia, hyperhidrosis and wasting of muscle. Neurology (Minneapolis) 17:263, 1967.
3. ISAACS, H. - A syndrome of continous muscle-fibre activity. J. Neurol. Neurosurg. Psychiat. (London) 24:319, 1961.
4. ISAACS, H. & HEFFRON, J. J. A. - The syndrome of "continous muscle-fibre activity" cured: further studies. J. Neurol. Neurosurg. Psychiat. (London) 37:1231, 1974.
5. LEVY, J. A.; WITTIG, E. O. & FERRAZ, E. C. F. - Escleroderma associada a atividade elétrica muscular contínua. Arq. Neuro-Psiquiat. (São Paulo) 23:283, 1965.
6. MERTENS, H. G. & ZSCHOCKE, S. - Differentiation of neuromyotonia from myogenic myotonia. 8th. International Congress of Neurology, Vienna, 2:311, Sept. 1965 (Resumo).
7. SIGWALD, J.; RAVERDY, P.; FARDEAU, M.; GREMY, F.; MACE DE LEPINAY, A.; BOUTTIER, D. & Mme. DANIC - Pseudomyotonie: forme particulière d'hyper-tonie musculaire a predominance distale. Rev. Neurol. (Paris) 115:1003, 1966.
8. SROKA, H.; BORNSTEIN, B. & SANDBANK, U. - Ultrastructure of the syndrome of continous muscle-fibre activity. Acta Neuropathol. (Berlim) 31:85, 1975.
9. WALLIS, W. E.; POZNAK, A. V. & PLUM, F. - Generalized muscular stiffness, fasciculations and myokymia of peripheral nerve origin. Arch. Neurol. (Chicago) 22:430, 1970.
10. WELCH, L. K.; APPENZELLER, O. & BICKNELL, J. M. - Peripheral neuropathy with myokymia, sustained muscular contraction and continous motor unit activity. Neurology (Minneapolis) 22:161, 1972.

Datas de Publicação

Publicação nesta coleção
30 Ago 2012
Data do Fascículo
Jun 1977

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

[1] 1. GARDNER-MEDWIN, D. & WALTON, J. N. - Myokymia with impaired muscular relation. Lancet 1:127, 1969.

[2] 2. GREENHOUSE, A. H.; BICKNELL, J. M.; PESCH, R. N. & SEELINGER, D. F. - Myotonia, myokymia, hyperhidrosis and wasting of muscle. Neurology (Minneapolis) 17:263, 1967.

[3] 3. ISAACS, H. - A syndrome of continous muscle-fibre activity. J. Neurol. Neurosurg. Psychiat. (London) 24:319, 1961.

[4] 4. ISAACS, H. & HEFFRON, J. J. A. - The syndrome of "continous muscle-fibre activity" cured: further studies. J. Neurol. Neurosurg. Psychiat. (London) 37:1231, 1974.

[5] 5. LEVY, J. A.; WITTIG, E. O. & FERRAZ, E. C. F. - Escleroderma associada a atividade elétrica muscular contínua. Arq. Neuro-Psiquiat. (São Paulo) 23:283, 1965.

[6] 6. MERTENS, H. G. & ZSCHOCKE, S. - Differentiation of neuromyotonia from myogenic myotonia. 8th. International Congress of Neurology, Vienna, 2:311, Sept. 1965 (Resumo).

[7] 7. SIGWALD, J.; RAVERDY, P.; FARDEAU, M.; GREMY, F.; MACE DE LEPINAY, A.; BOUTTIER, D. & Mme. DANIC - Pseudomyotonie: forme particulière d'hyper-tonie musculaire a predominance distale. Rev. Neurol. (Paris) 115:1003, 1966.

[8] 8. SROKA, H.; BORNSTEIN, B. & SANDBANK, U. - Ultrastructure of the syndrome of continous muscle-fibre activity. Acta Neuropathol. (Berlim) 31:85, 1975.

[9] 9. WALLIS, W. E.; POZNAK, A. V. & PLUM, F. - Generalized muscular stiffness, fasciculations and myokymia of peripheral nerve origin. Arch. Neurol. (Chicago) 22:430, 1970.

[10] 10. WELCH, L. K.; APPENZELLER, O. & BICKNELL, J. M. - Peripheral neuropathy with myokymia, sustained muscular contraction and continous motor unit activity. Neurology (Minneapolis) 22:161, 1972.