Esclerose lateral amiotrófica: considerações sobre critérios diagnósticos

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is no specific confirmation test. The objective of this research is to critically examine the main diagnosis instrument - El Escorial revisited, from the World Federation of Neurology (1998). Of the 540 patients with initial ALS diagnosis, either probable or definite, seen at UNIFESP-EPM, 190 underwent thorough investigation, following regular clinical and therapeutic treatment for over two years. Thirty patients (15.78%) had their diagnosis completely changed. The false-positive diagnoses were related to: early age, clinical presentation of symmetry, weakness greater than atrophy, symptomatic exacerbation. In addition, three patients with myasthenia gravis developed framework for ALS, suggesting the post-synaptic disability as a sign of early disease.Esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa, que compromete o neurônio motor, caracterizada por fraqueza muscular progressiva, com prognóstico reservado. O diagnóstico é baseado na inclusão e exclusão de critérios clínicos, uma vez que não existe um teste de confirmação específica. O objetivo desta pesquisa é analisar criticamente o instrumento de diagnóstico principal - El Escorial revisited, da Federação Mundial de Neurologia (1998). Dos 540 pacientes com diagnóstico inicial de ELA, seja provável ou definitiva, vistos pela UNIFESP-EPM, 190 foram submetidos a investigação aprofundada, após tratamento clínico e terapêutico regular há mais de dois anos. Trinta pacientes (15,78%) tiveram seu diagnóstico mudado completamente. Os diagnósticos falso-positivos foram relacionados à idade precoce, a apresentação clínica da simetria, a fraqueza superior a atrofia, exacerbação sintomática. Além disso, três pacientes com miastenia gravis desenvolveram quadro de ELA, sugerindo a lesão pós-sináptica como um sinal precoce da doença.Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM) Department of Neurology and NeurosurgeryUNIFESP, EPM, Department of Neurology and NeurosurgerySciEL

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

Actinomycosis of the central nervous system: a rare complication of cervicofacial actinomycosis

Central nervous system actinomycosis is a rare but treatable chronic suppurative bacterial infection. The case of a young immunocompetent male with actinomycosis of the CNS is presented. The abscess originated from a primary cervico-facial infection and was located in the left parasellar region. After excision of the mass, that showed Actinomyces colonies, the patient was treated with intravenous Penicillin for 42 days followed by oral administration of the drug for 30 days. After surgery the patient was left with mild sequelae that had improved by the last follow-up, 7 months later. A new CT scan at that time revealed no residual disease or recurrence. The early diagnosis of cerebral actinomycosis relies essentially on a clinical suspicion. Hence it is imperative to be aware of the natural history of this infection and its various modes of presentation.A actinomicose do sistema nervoso central (SNC) é afecção rara, caracterizada pela formação de abscesso único e de evolução crônica. Os autores descrevem o caso de um paciente jovem, imunocompetente, com actinomicose cerebral oriunda de foco primário cervicofacial, submetido a ressecção cirúrgica e antibioticoterapia. Ressalta-se a importância do conhecimento da entidade e de suas principais formas de acometimento, como a base do diagnóstico precoce dessa enfermidade potencialmente curável e de bom prognóstico.Escola Paulista de MedicinaUNIFESP, EPMSciEL