Neuropatia na miopatia miotubular ou centronuclear

OBSERVAÇÃO J.D.C.S., com 12 anos de idade sexo masculino, pardo, brasileiro, admitido no Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais (R.G. 160989), em 17-02-76, para avaliação de fraqueza, hipotrofia muscular e ptose palpebral bilateral. O paciente nasceu de parto normal, a termo, sem assistência hospitalar. Os pais afirmam que a criança apresentava baixo peso e hipotonia ao nascimento. É o quarto filho de uma série de seis irmãos (2 irmãos e 3 irmãs). Os pais não são consanguineos. Desde o nascimento apresentava fraqueza generalizada, ptose palpebral bilateral, dificulda .Te para deglutir. Não conseguimos obter detalhes seguros quanto ao desenvolvimento psicomotor, exceto que começou a deambular aos 4 anos de idade. Apresentava fatigabilidade fácil em relação às outras crianças de sua idade. Não há história familial de doenças musculares. Ao internamento pesava 20.500 g e media 122 cm. Apresentava facies miopática (Fig. 1), acentuada ptose palpebral bilateral, exagerada lordose lombar (Fig. 1), escapula alada, acentua Ia hipotrofia dos membros superiores, voz nasalada, gagueira, limitação dos movimentos oculares em todas as direções, exoforia à direita. Ausência de nistagmo. Reflexos fotomotores normais. Fundo de olho sem alterações. Diplegia facial, paresia bilateral do palato, diminuição

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An electrophysiological investigation of skeletal muscle in human chronic Chagas' disease

Sanz

Ratusnu

Aristimuno

et al. 1978

Arq. Neuro-Psiquiatr.

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In a preliminary investigation carried out on patients with chronic Chagas' disease, Pagano et aí. 7 demonstrated that some skeletal muscle denervation occurs in this condition; however they were unable to individualize the site of lesion within the motor unit (m.u.). The present investigation has been design to explore further the denervation which can be found in these patients and an attempt has been made to localize the site of the m.u. where the original lesion occurs.A partial account of this work has been given elsewhere 8 MATERIAL AND METHODS90 patients aged between 7 and 58 years, with chronic Chagas' disease, were studied. All them were judged to be healthy on clinical examination and the diagnosis* was based on the positiveness of, at least, two out of three specific serum tests for Chagas' disease.Coincidental causes of denervation were eliminated by excluding patients over the age of 6012 and any who had had toxic or metabolic disorders known to be associated "with neuropathy.A total of 270 healthy subjects served as controls for one or more electrophysio logical test.The following investigations were carried out: 1) measurements of maximal nerve motor and sensory conduction velocities as well as motor terminal latencies were made in the manner described in previous papers 11; 2) responses of the thenar muscles to repetitive stimulation of the median nerve (one second trams of supramaximal stimuli were given at frequencies of 3, 10 and 30 Hz on the median nerve at the wrist, while the muscle evoked responses were recorded at the thenar muscles with surface electrodes); 3) in a few patients (8 subjects) quantification of the end-plate noise was carried out by employing a tungsten electrode inserted within the extensor digitorum brevis (edb) muscle end-plate area in the manner described by O'Neill and Sicaft; 4) estimations of the numbers and sizes of operative m.u. were performed within the thenar, hypothenar, soleus and edb muscles following the techniques decribed previously 2,0,12; 5) the amount of excitability coming down from the supraspinal structures which is imposed onto the spinal alpha motoneurones was tested in all the patients by applying the excitability coefficient (ec)io. This investigation was carried out in the thenar muscles inervated by the median nerve.Section of Clinical Electroneurophysiology, Hospital Ramos Mejia, Buenos Aires. Argentina.

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Neuropatia na miopatia miotubular ou centronuclear

Abstract: The application of these techniques to the study of this condition provided •electrophysiological evidences that neuropathic changes do occur.

Cited by 3 publications

References 10 publications

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An electrophysiological investigation of skeletal muscle in human chronic Chagas' disease

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