Paulo N. B. Salum

Mielopatias: aspectos diagnosticos

A re-evaluation is made of those aspects which led to the etiologic diagnosis in 353 patients who suffered from non-traumatic, non-tumoral myelopathies, and whose cases were studied along a period of 20 years. The cases were distributed as follows: syringomyelia, 5 cases; vascular myelopathy, 15 cases; privation caused myelopathies, 67 cases; infectious or infestation caused myelopathies, 82 cases; post-vaccination, post-infection or post-intoxication, 31 cases; multiple sclerosis and optic neuromyelitis, 20 cases; primary myeolopathy, 133 cases. With basis on the diagnosis, those aspects which may contribute to the existing knowledge about physiopathologic mechanisms related to the onset of spinal cord involvement, as related to immunobiologic alterations, are analysed. The role of necrosis, demyelinization and inflammation, and their respective interrelashionships are considered in this light.

Meningomielorradiculopatia na esquistossomose mansônica: avaliação clínica e do líquido cefalorraqueano em 16 casos

Data on 16 patients with spinal cord involvement by Schistosomiasis mansoni are evaluated as to the clinical course and the evolution of cerebrospinal fluid changes. According to evidences of radicular involvement cases were divided in two groups: myelitis (9 cases) and radiculomyelitis (7 cases). Cerebrospinal fluid changes were evaluated as to cytology, total protein content and gammaglobulins. Partial remission of clinical symptomatology was more common among patients of the second group than among those of the first group. There was not relationship of CSF changes and their course with the clinical course of the disease. Cerebrospinal fluid changes and their course were not related to clinical aspects of the disease and their course. Remission of hypercytosis was more common than the remission of protein changes along the evolution in the two groups of cases considered.Data on 16 patients with spinal cord involvement by Schistosomiasis mansoni are evaluated as to the clinical course and the evolution of cerebrospinal fluid changes. According to evidences of radicular involvement cases were divided in two groups: myelitis (9 cases) and radiculomyelitis (7 cases). Cerebrospinal fluid changes were evaluated as to cytology, total protein content and gammaglobulins. Partial remission of clinical symptomatology was more common among patients of the second group than among those of the first group. There was not relationship of CSF changes and their course with the clinical course of the disease. Cerebrospinal fluid changes and their course were not related to clinical aspects of the disease and their course. Remission of hypercytosis was more common than the remission of protein changes along the evolution in the two groups of cases considered.

Cardiopulmonary exercise testing for evaluation of muscle diseases

PURPOSE To evaluate the cardiopulmonary exercise testing (CPX) for the diagnosis of myopathies. METHODS 27 patients with myopathy were submitted to CPX testing (symptom limited bike protocol). RESULTS Dystrophic patients and patients with mitochondrial disease, compared with controls, showed significant differences for the power of work perfomed (watt) and the maximum oxygen consumption (VO2 max). Patients with mitochondrial disease presented significantly lower values of anaerobic threshold when compared to controls and elevation of exercise peak respiratory exchange ratio (RER) values when compared to the others groups. CONCLUSIONS CPX testing may be useful in evaluating degree of physical limitation of patients with myopathy at inicial stage as well on follow-up examinations. Power of work performed, VO2 max, anaerobic threshold and RER at exercise peak may suggest the diagnosis of myopathy and its sub-types and therefore exclude psychologic causes of limitation.

Miopatias associadas a agregados tubulares

The authors report the case of a 58-year-old male patient with clinical and electromyographic features of myasthenia. Muscle biopsy with histochemistry and electronic microscopy made it possible to diagnose a myopathy associated with tubular aggregates. Attention is called to the fact that the anatomical pathologic alterations which were found may be present in a heterogenous group of patients showing a great variety of symptoms. Thus, there is no reason to consider the existence of a myopathy associated with tubular aggregates, since the anatomical and pathologic findings are inespecific and do not characterize any specific disease.

Distrofia muscular progressiva congênita tipo Fukuyama descrição de um caso

Os autores relatam o primeiro caso de distrofia muscular progressiva congenita tipo Fukuyama descrito no Brasil, comprovado pelos achados clinicos e exames complementares. E dada enfase a presenca de retracoes fibrotendinosas precoces e envolvimento do sistema nervoso central, o que constitui a caracteristica fundamental da afeccao. A molestia e muito frequente no Japao e pouco descrita em outros paises. A etiopatogenia ainda nao esta definida.The authors report the first Fukuyama type congenital progressive muscular dystrophy case described in Brazil, and confirmed through clinical findings and complementary tests. Emphasis is given to the presence of early fibrotendinous retractions and impairment of the central nervous system, which constitute the fundamental characteristics of this affection. This disease is very common in Japan but very seldom described in other countries. Its etiopathogeny has not yet been defined.

Miopatia nemalinica: relato de um caso com estudo histoquimico e microscopia eletrônica

Report of a case of a male child, with hypotonia since birth, along with severe feeding dificulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.Report of a case of a male child, with hypotonia since birth, along with severe feeding dificulties due to lack of swallowing, that resulted in a permanent gastrostomy. Despite the delayed motor development, he had a normal intelligence. An electromyography was suggestive of primary muscle involvement. A fresh-frozen muscle biopsy stained by the modified Gomori trichrome and processed by histochemistry and electron microscopy presented the typical nemaline rods and deficiency of type II muscle fibers. It is made a brief revision about the clinical symptoms, origin and pathogenesis of nemaline bodies. The case reported probably represents a nemaline myopathy, of the congenital type.

Miotonia congênita: relato de sete pacientes

Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis.The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptons between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition.Two patients presented fluctuating myotonia, which became worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis.The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptons between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition.Two patients presented fluctuating myotonia, which became worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.

Mitochondrial myopathy with respiratory muscle involvement: a case report.

A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported. The institution of assisted respiration at night allowed the patient to return to her daily activities. Examination of muscular biopsy with ultra-microscope permitted the diagnosis of mitochondrial myopathy.

Meningomielorradiculopatias agudas e sub-agudas primárias: estudo do líquido cefalorraqueano

Forty four pacients with primary acute and subacute meningomyeloradiculopathies were studied in respect to the evolutive aspects of the cerebrospinal fluid (CSF) cell-protein dual in several periods of the disease. The tendency of CSF hypercytosis to normal values of cell count occurred in most cases (96%) at the end of the period in which the study was performed (60 days). The CSF protein levels had a similar but slower behavior pattern when compared with hypercytosis. The comparative analysis of clinical improvement of two groups of patients (treated and not treated with ACTH or corticosteroids) showed a statiscally significant difference between the two groups favouring the former. This fact enhances the possibility that an auto-immune process plays an important role in cases of primary meningomyeloradiculopathies.Forty four patients with primary acute and subacute meningomyeloradiculopathies were studied in respect to the evolutive aspects of the cerebrospinal fluid (CSF) cell-protein dual in several periods of the disease. The tendency of CSF hypercytosis to normal values of cell count occurred in most cases (96%) at the end of the period in which the study was performed (60 days). The CSF protein levels had a similar but slower behavior pattern when compared with hypercytosis. The comparative analysis of clinical improvement of two groups of patients (treated and not treated with ACTH or corticosteroids) showed a statistically significant difference between on the two groups favouring the former. This fact enhances the possibility that an auto-immune process plays an important role in cases of primary meningomyeloradiculopathies.

Miopatia nemalínica com corpos intracitoplasmáticos esferúides: relato de caso

Os autores relatam o caso de paciente do sexo feminino de 18 anos de idade com fraqueza lentamente progressiva nos quatro membros desde a infância, sem antecedentes relevantes. O exame neurologico mostrou deficit motor discreto proximal e distal com retracao muscular leve ao nivel de ombros, cotovelos, articulacoes coxo-femurais, joelhos e tornozelos; hipotrofia muscular nas pernas e pes: reflexos presentes e sensibilidade normal. Creatinofosfoquinase com aumento de uma vez e meia o valor normal. Eletroneuromiografia: diminuicao de amplitude e duracao dos potenciais de acao e tracado de interferencia paradoxal, compativeis com afeccao muscular primaria. Biopsia muscular em congelacao (HE, Gomori, PAS, ATPases, NADH, SDH, fosfatases acida e alcalina, citocromo-c-oxidase e Oil-red-O) revelou afeccao muscular primaria caracterizada pela presenca de corpos nemalinicos e corpos intracitoplasmaticos esferoides. Os corpos nemalinicos podem ser encontrados com diferentes alteracoes das fibras musculares, porem essa associacao e rara. Este e o segundo relato da associacao entre corpos nemalinicos e esferoides.The authors report the case of a female patient, 18 years of age, with slowly progressing weakness in upper and lower limbs since childhood. There were no significant antecedents. The neurologic examination showed mild proximal and distal motor deficit with a slight muscular retraction at the level of shoulders, elbows, coxofemural joints, knees and ankles; muscular hypotrophy in the legs and feet; reflexes were present and sensitivity was normal. Creatinephosphokinase showed an increase of one and a half times the normal value. Electroneuromyography: decrease in the amplitude and duration of action potentials and excessive recruitment of motor units, compatible with a primary muscular disease. A muscle biopsy with frozen sections (HE, Gomori, PAS, ATPases, NADH, SDH, acid and alcaline phosphatases, cytochrome oxidase and Oil-red-o) revealed a primary muscular disease characterized by the presence of nemalinic and intracytoplasmic spheroid bodies. Nemalinic bodies have been described with different structural abnormalities of muscle fibers; however, such association is rare. This is the second case report of concomitant occurrence of nemalinic and spheroid bodies.