Luiz Antonio Alves Duro

Atrofia hemifacial progressiva (doença de Parry-Romberg): estudo de um caso

A caracteristic case of hemifacial progressive atrophy at right is reported. The patient was a man with 45 year-old. There were epileptic crisis at left too. Alterations observed in clinical-neurological examination are referred. In computadorized tomographic axial examination there were parietotemporal atrophy at left and frontal contrast hipercaptation at right. In EEG there were lentification at right and depression at left who was in concordance with the pathological alterations of the patient: atrophy and cortical depression at left with facial atrophy at right and lentification and contrast hipercaptation at right with epileptic crisis at left. EMG showed facial velocity condution slowed at right. The authors believe in atrophy hemifacial progressive has been a disease which injuries central and peripheral nervous system at one time.: A caracteristic case of hemifacial progressive atrophy at right is reported. The patient was a man with 45 year-old. There were epileptic crisis at left too. Alterations observed in clinical-neurological examination are referred. In computadorized tomographic axial examination there were parietotemporal atrophy at left and frontal contrast hipercaptation at right. In EEG there were lentification at right and depression at left who was in concordance with the pathological alterations of the patient: atrophy and cortical depression at left with facial atrophy at right and lentification and contrast hipercaptation at right with epileptic crisis at left. EMG showed facial velocity conduction slowed at right. The authors believe in atrophy hemifacial progressive has been a disease which injuries central and peripheral nervous system at one time.

Crises epilépticas evocadas pela ingestão de alimentos: registro de um caso

The case of one 23 year-old girl who had epileptic manifestations is reported. At first, generalized tonic seizures; afterwards, epileptic seizures precipited by eating. The electroencephalograms showed left temporal lobe disfunctions. Different types of drugs were used with no sucess. The best results were obtained by association of sodium valproate, clonazepan and phenobarbital. Comments are made about clinic and etiopathogenesis, believing the authors in the hipothesis of nervous structures chronic hiperactivity. To Walker8 the hiperactivity was reached by hormones production under neural control of specific cerebral centers. The continuous bombardment of epileptic discharges to hypothalamic centers is the probably responsible by epileptic seizures precipited by eating.The case of one 23 year-old girl who had epileptic manifestations is reported. At first, generalized tonic seizures; afterwards, epileptic seizures precipitated by eating. The electroencephalograms showed left temporal lobe dysfunctions. Different types of drugs were used with no success. The best results were obtained by association of sodium valproate, clonazepam and phenobarbital. Comments are made about clinic and etiopathogenesis, believing the authors in the hypothesis of nervous structures chronic hyperactivity. To Walker the hyperactivity was reached by hormones production under neural control of specific cerebral centers. The continuous bombardment of epileptic discharges to hypothalamic centers is the probably responsible by epileptic seizures precipitated by eating.

Evaluation of two infants with myotonic dystrophy by the McFie's diagram from the results of WISC

In this paper the authors disclose the result of a research carried out on two brothers whose parents were first cousins, being the gene transmitted by the father. The psychological test Wechsler Intelligence Scale of Children (WISC) was used in two occasions in order to assess the verbal and non-verbal skills. FRM and IRM were nine and eleven-year-old respectively, in the first examination, being the former thirteen and the latter fifteen-year-old on the second one. A comparison between the McFies diagram and the WISC scores was made: the McFies diagram showed the impairment severity in each cortical lobe when the left hemisphere was compared with the right one. The McFies diagram was made from WISCs scores: the McFies diagram showed the impairment severity in each cortical lobe when the left hemisphere was compared with the right one. On the second examination the performance was worse than in the first, mainly in the non-verbal aspects. The IRMs diagram showed a reduction in the right frontal and parietal lobes. In the FRMs diagram a reduction in the left frontal, temporal and parietal lobes, and also, in the right parietal lobe was found. The visual-spatial constructive aspects showed greatest impairment in this result.

Avaliação orofacial através de uma escala de pontuação em pacientes com distrofia miotônica. (doença de Steinert)

Orofacial examination was applied in 39 patients with myotonic dystrophy. We made an original table with a scale of punctuation. The group showed a deficit of 43.70%. The female group was 6.16% better than males. The maternal inherited cases were 3.63% better than the paternal ones. When we separated the groups by decades, there was a tendency to an increasingly better performance as the age of the beggining of symptoms was later. The performance was 10.68% better in the group of patients with 1 to 10 years than in the group with 11 to 20 years of disease. We concluded that the phonoaudiological affection in myotonic dystrophy was less intense in patients with later onset of symptons and less than 10 years of disease.

Progressive muscular dystrophy: Duchenne type. Controversies of the kinesitherapy treatment

The authors carried out a study of children with progressive muscular dystrophy of Duchenne type (DMD), giving special attention to physiatrical follow-up, having in mind that the practice of exercises has been debated very much in the specialized literature. The goal of this study is to try to settle the limits for the utilization of kinesitherapy which should be applied only in specific situations, such as: after skeletal muscular trauma or when the respiratory system is at risk. In this situation the physiatrical procedure would be to restrict physical activity, with early use of wheelchairs and the exclusion of the use of orthoses for orthostatism. DMD, at present, has been considered a result of duplication (60%), deletion (5 to 6%) or point mutations at gen Xp21 (Zatz, 1994), that codifies a protein called Dystrophin (Hoffman et al., 1987). Dystrophin is a cytoskeletal sarcolemmic protein that constitutes about .002% of the total protein of the muscle, present in skeletal fibers concentrated in muscle tendinous joints, which supplies mechanical reinforcement to the surface of the membrane during stretching and shortening physical activity. This protein is absent in DMD cases, wherefore, the sarcolemma undergoes a segmentary necrosis losing its contractile property during eccentric and concentric physical activity. The importance of physiatrical follow-up for DMD patients is to avoid deformities and tendon shortening, to ameliorate the patients quality of life, to provide respiratory assistance and general counseling to members of the patients family. The objective of this study is to try to clarify the risks and possibilities of kinesitherapy applied to DMD cases.

Analysis of the DMPK gene CTG repeat in healthy Brazilians

Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24 alleles having more than 18 repeats (7.69%). This frequency of (CTG)319 alleles observed in our population suggests that the prevalence of DM in Rio de Janeiro should not be different from the prevalence in European populations.

Estudos virológicos em pacientes com esclerose lateral amiotrófica

The effects of intracerebral inoculation of cerebrospinal fluid in mice from 9 patients with amyotrophic lateral sclerosis are reported. There were 704 animals inoculated. The results were considered positives when the animals presented difficults in walking and equilibrating. Cases 1, 2, 6, 7 and 9 were positives in first passage. In case 1, the positivity was reached from first to fourth passage and in case 6. to third passage. At sight of this results, the possibility of that disease to be caused by slow-virus is discussed.

Efeito do barbexaclone nas crises convulsivas de dificil controle

Foi feito ensaio terapeutico visando ao controle de crises rebeldes com o barbexaclone, sendo obtidos resultados bastante positivos. Os autores chamam a atencao para a associacao do barbexaclone com a acetazolamida em alguns casos, com bons resultados. Ressaltam a vantagem do medicamento quanto aos efeitos colaterais, observando que com o barbexaclone estes estao diminuidos ou mesmo abolidos, mantendo-se o paciente desperto e participante.

Oftalmoplegia extrinseca progressiva.Registro de tres casos.

Three women with extrinsic oculo-muscular distrophy were studied. In two patients the symptons were began at 25 and another one at 56 year-old. Non miogenic features were observed: in case one there was familial otosclerosis. This patient had impossibility to beget children Her first menstruation was observed at 19 and the last at 40 year-old, like to case 2, which was the only to have electrocardiographic alterations. Rombergs signal and profound hyporreflexia was obtained in case 3, whose family had a lot of member with catarat. Biopsy of the non ocular muscles was made too, in spite of patients symptons had been concerning to ocular muscles only. All of non ocular muscles had miogenic features. In electromyogram examination of non ocular muscles the miogenic features were observed too. Therefore, we believe in diffuse miogenic process in spite of ocular manifestation had been the only patients compleints.A case of progressive ophtalmoplegia and ptosis affecting a 12 year old boy is reported. A miopatic pattern was detected by the electromyography, the cerebrospinal fluid showed an increase of the protein content and retinal pigmentary degeneration was detected. This findings call the attention for a more widespread degenerative disorders affecting not only the muscular sistem but other organs as well.