Normal pattern of intraepidermal nerve fibers in 30 healthy volunteers with PGP 9.5

Skin biopsy has become an attractive technique to evaluate the terminal regions of small nerve fibers. There is extensive innervation of the skin by both sensory and autonomic fibers as demonstrated by staining for the pan-axonal marker PGP 9,5. The normal pattern is fundamental before any study, since three different techniques described in the literature with different results. Skin biopsy specimens of 3-mm in diameter were obtained from the distal leg of 30 healthy controls. Median intraepidermal nerve fiber density was 5.3/mm. Skin biopsy may be a useful tool for assessing the topographic extent and degree of nerve fiber damage in sensory neuropathies and may be particularly useful in experimental treatment trials for peripheral neuropathies since, in contrast to standard nerve biopsy, the test can be repeated.O recente método de avaliação das fibras nervosas intraepidérmicas com o PGP 9,5 vem se mostrando de grande utilidade no diagnóstico das neuropatias sensitivas de fibras finas, autonômicas e neuropatias periféricas subclínicas. Devido à variação da técnica relatada na literatura é de fundamental importância uma padronização normal. Estudamos 15 homens e 15 mulheres com média de idade de 34,5 anos. Em todos os voluntários foi realizada biopsia de pele na porção distal da perna. A média da densidade linear das fibras nervosas intraepidérmicas foi 5,3/mm com mediana de 6,0 e desvio padrão de 1,94. Essa técnica possui um grande número de vantagens em relação à biopsia de nervo convencional, é simples, pouco invasiva, reproduzível e pode ser repetida no mesmo paciente para avaliar progressão da neuropatia e possíveis respostas terapêuticas.Universidade Federal de São Paulo (UNIFESP) Escola Paulista de MedicinaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Setor de Investigação em Doenças NeuromuscularesFaculdade Metropolitana UnidaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de Anatomia PatológicaUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de Neurologia e NeurocirurgiaUNIFESP, EPM, Setor de Investigação em Doenças NeuromuscularesUNIFESP, EPM, Depto. de Anatomia PatológicaUNIFESP, EPM, Depto. de Neurologia e NeurocirurgiaSciEL

Dengue: achados de biópsia muscular em 15 pacientes

Dengue is known to produce a syndrome involving muscles, tendons and joints. The hallmark of this syndrome is severe myalgia but includes fever, cutaneous rash, and headache. The neuromuscular aspects of this infection are outlined only in isolated reports, and the muscle histopathological features during myalgia have not been described. In order to ascertain the actual neuromuscular involvement in dengue and better comprehend the histological nature of myalgia, we performed a clinical and neurological evaluation, a serum CPK level and a muscle biopsy (with histochemistry) in 15 patients (4 males), median age 23 years (range 14-47) with classic dengue fever, serologically confirmed, during the bra-zilian dengue epidemics from September 1986 to March 1987. All patients had a history of fever, headache and severe myalgia. Upon examination 4 had a cutaneous rash, 3 had fever, and 3 a small hepatomegaly. The neurological examination was unremarkable in all and included a manual muscle test. CPK was mildly elevated in only 3 patients. Muscle biopsy revealed a light to moderate perivascular mononuclear infiltrate in 12 patients and lipid accumulation in 11. Mild mitochondrial proliferation was seen in 3, few central nuclei in 3, rare foci of myonecrosis in 3, and 2 patients had type grouping. Dengue in our patients, produced myalgia but no detectable muscle weakness or other neuromuscular involvement. The main histopathological correlation with myalgia seems to be a perivascular mononuclear infiltrate and lipid accumulation.A síndrome clínica produzida pelo vírus da dengue, inclui febre, exantema, cefaléia e especialmente mialgia. Entretanto, as possiveis alterações morfológicas do músculo esquelético, eventualmente relacionadas com a mialgia, ainda não haviam sido estudadas em seres humanos com dengue. Nosso objetivo foi estudar o substrato, anatomopatológico da mialgia nesses pacientes. Foram avaliados 15 pacientes com diagnóstico de dengue, forma clássica, com idades variando de 14 a 47 anos (mediana de 23 anos), sendo 4 do sexo masculino e 11 do sexo feminino, através de exame clínico e neurológico, exames laboratoriais e biópsia muscular com histoquímica, durante a epidemia de dengue em Alagoas, em 1987. Todos os pacientes apresentavam história de cefaléia, febre e mialgia intensa, sem fraqueza muscular. Ao exame clínico observou-se exantema em 4 pacientes, febre em 3 e discreta hepatomegalia em 3. O exame neurológico foi normal em todos e a enzima CK sérica estava pouco elevada em 3 pacientes. A biópsia muscular revelou discreto infiltrado inflamatório mononuclear perivascular em 12 pacientes, acúmulo lipídico em 11, predominância de fibras do tipo I em 6, raros focos de necrose em 3, proliferação mitocondrial em 3, centralização nuclear em 3 e type grouping em 2. As alterações mais frequentemente observadas na biópsia muscular, infiltrado inflamatório perivascular e acúmulo lipídico, podem estar relacionadas com a mialgia.Escola Paulista de Medicina Department of NeurologyEscola Paulista de Medicina Department of PathologyUNIFESP, EPM, Department of NeurologyEscola Paulista de Medicina Department of PathologySciEL

Fasceite eosinofílica simulando esclerose lateral amiotrófica

Federal University of São Paulo Department of Neurology and Neurosurgery Neuromuscular Disorders UnitHospital São CristovãoUNIFESP, Department of Neurology and Neurosurgery Neuromuscular Disorders UnitSciEL

Congenital muscular dystrophy: a clinical report on 17 patients

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hipodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.Descrevemos 17 pacientes (12m, 5f) com idades que variaram de 1 a 24 anos (mediana 6 anos) com distrofia muscular congênita (DMC), que foram estudados do ponto de vista genético, clínico, laboratorial, eletrofisiológico e anátomo-patológico. A apresentação segundo a herança foi da forma esporádica (76,5%) ou possivelmente autossômica recessiva (23,5%). A diminuição da movimentação fetal intra-uterina foi referida em 57% dos casos, hipotonia neonatal em 82% e retardo no desenvolvimento motor em 88,2%. Fraqueza muscular, diminuição dos reflexos profundos e contraturas articulares estavam presentes em todos os casos. A piora na função motora estava muito relacionada ao aumento ou aparecimento de novas retrações articulares. A CK nunca ultrapassou valores acima de 8 vezes o normal. O ENMG foi de padrão miopático em 73,3%, neuropático em 13,3% e normal em 13,3% dos casos. Aspectos tomográficos com hipodensidade da substância branca subcortical foram vistos em 8 casos. Ao tratamento impôs-se fisioterapia adequada e cirurgia corretiva das deformidades articulares. Novas contraturas desenvolveram-se mais tarde e estavam relacionadas freqüentemente a fisioterapia insuficiente.Escola Paulista de MedicinaUNIFESP, EPMSciEL

Periodic paralysis: anatomo-pathology of skeletal muscle of 14 patients

Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease. We analysed 17 muscle biopsies from 14 patients with periodic paralysis (14 hypokalemic, 2 hyperkalemic). All of them showed at least one histological abnormality. Fourteen specimens showed vacuoles that were peripheral, single, frequent and preferentially found in type I fibers. Frequency or severity of attacks did not correlate with the presence of vacuoles but those were more easily found in patients with long term disease. Ten biopsies showed tubular aggregates, specially on the patients with frequent crises or long term disease. A second biopsy was done in three patients and in two we observed a worsening of the histopathologic picture. One patient manifested interictal weakness with evident myopathic changes on the muscle biopsy. Nonspecific changes were found in variable degrees in 15 biopsies. Our study shows that vacuoles and tubular aggregates are frequent changes in periodic paralysis and therefore helpful for the diagnosis. Important myopathic findings in the muscle biopsy suggest a permanent myopathy which probably develops after severe crises or long term disease.A paralisia periódica é entidade caracterizada por crises de fraqueza muscular relacionadas com alterações do nível sérico de potássio. A biópsia muscular pode mostrar alterações específicas ou inespecíficas. Nosso estudo tem como objetivo a análise de 17 biópsias musculares de 14 pacientes com paralisia periódica (14 hipocalêmica, 2 hipercalêmica). Todas as biópsias mostraram alguma alteração histopatológica. Quatorze biópsias apresentavam vacúolos, que se caracterizavam por serem únicos, de localização periférica, de aparecimento frequente e preferentemente em fibras do tipo I. Os vacúolos eram mais visualizados naqueles pacientes com longa evolução e sem relação com a frequência de crises. Os agregados tubulares foram encontrados em 10 biópsias principalmente naqueles pacientes com crises frequentes e doença de longa evolução. Em 3 pacientes foram realizadas 2 biópsias, notando-se piora das alterações em 2. Um paciente evoluiu com quadro clínico de miopatia permanente, confirmado pela biópsia muscular. Alterações inespecíficas foram encontradas em graus variáveis em 15 biópsias. Nosso estudo mostra que os vacúolos e os agregados tubulares são achados frequentes na paralisia periódica, constituindo importante auxílio diagnóstico. Alterações miopáticas evidentes à biópsia sugerem o aparecimento de miopatia permanente, quadro decorrente de doença de longa evolução ou crises severas.Escola Paulista de MedicinaEscola Paulista de Medicina Departamento de Anatomia PatológicaUNIFESP, EPM, Depto. de Anatomia PatológicaSciEL

Proximal limb weakness and amyotrophy in a man with silicosis

Univ Fed Sao Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Neurol & Neurocirurgia, Div Doencas Neuromusculares, Sao Paulo, SP, BrazilWeb of Scienc

Assessment of energy expenditure in individuals with post-poliomyelitis syndrome

The objective of this study was to identify energy expenditure, retrospectively, in individuals with post-poliomyelitis syndrome (PPS) in the Brazilian population. Methods: The Baecke questionnaire for the evaluation of habitual physical activity (HPA), assessment of quality of life (WHOQOL-Bref), and the Fatigue Severity Scale were administered to patients with PPS, poliomyelitis sequelae (PS) and to a control group (CG). Participated in the study 116 individuals (PPS=52,PS= 28,CG=36). Results: Patients with PPS tended to increase their HPA from 10 to 20 years of age, compared with those in the PS group and the CG. In the period from 21 to 30 years of age, there was significant increase in the PPS group's occupational physical activity compared to the PS group, and the occupational physical activity (21-30 years of age) correlated with the onset of symptoms of PPS. Conclusion: Patients with PPS had a higher energy expenditure during life, especially in occupational physical activity at ages 21-30 years, suggesting this decade is critical for the development of PPS.Univ Fed Sao Paulo, Setor Invest Doencas Neuromusculares, Sao Paulo, SP, BrazilCtr Univ Augusto Motta, Mestrado Ciencias Reabilitacao, Bonsucesso, RJ, BrazilUniv Severino Sombra, Mestrado Ciencias Aplicadas Saude, Vassouras, RJ, BrazilUniv Fed Sao Paulo, Dept Anesthesiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Setor Invest Doencas Neuromusculares, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Anesthesiol, Sao Paulo, SP, BrazilWeb of Scienc