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.

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.

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.

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.

São relatados 12 pacientes com o diagnóstico de MM definidos histoquimicamente. Nove pacientes eram do sexo masculino e três do sexo feminino. A idade de início dos sintomas variou desde o período neonatal até os 35 anos de idade (mediana 14 anos). Foram identificadas como características principais a fraqueza muscular, oftalmoplegia e ptose palpebral em 10 pacientes. Um paciente apresentou quadro de intolerância aos exercícios e outro além da fraqueza muscular, alteração do comportamento. São discutidos aspectos clínicos e o diagnóstico diferencial de nossos pacientes.

Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture was that of ophthalmoplegia, ptosis and muscle weakness found in 10 patients. One presented with exercise intolerance due to muscular aches and pains, and the other besides his muscular weakness had mental retardation and an aggressive behavior. The clinical presentation and differencial diagnosis of these patients are discussed.

Vinte e dois pacientes alcoólatras crônicos foram submetidos a exame clínico neurológico e biópsia muscular. Eles apresentavam graus variáveis de fraqueza muscular proximal (cinturas escapular e pélvica), tendo um deles evoluído com quadro agudo de miopatia (avaliação pelo 'Manual Muscle Test', MMT). A principal alteração histológica observada é melhor evidenciada pela coloração da ATPase: atrofia muscular (95,3%), predominando nas fibras do tipo II A (71,4%) e, em 76% dos casos, alteração da imagem em mosaico à custa de agrupamentos de fibras musculares de mesmo tipo histoquímico ('type-grouping'). Secundariamente, em 63% dos casos, observa-se proliferação mitocondrial e conseqüente acúmulo lipídico intra-sarcoplasmático. No caso de instalação aguda da fraqueza muscular, o substrato anátomo-patológico é completamente diferente: presença de mlosite, predominantemente intersticial, caracterizada por infiltrado linfoplasmocitário e numerosas imagens de necrose tipo degeneração cérea de Zencker. Baseando-se em critérios histológicos, nossos dados sugerem que: a principal gênese da fraqueza muscular observada em pacientes alcoólatras crônicos tem natureza neurogênica (polineuropatia alcoólica); a atuação tóxica direta do etanol sobre o músculo esquelético está intimamente relacionada ao metabolismo mitocondrial; a chamada miopatia aguda alcoólica tenha etiologia inflamatória, do tipo viral.

Twenty-two chronic acoholic patients were assessed by neurologic examination and muscle biopsy. The patients manifested proximal muscular weakness to a variable extent. One case presented as an acute bout of myopathy, according to the Manual Muscle Test, MMT. The most prominent histologic feature observed was muscle atrophy (95.3%) better evidenced through the ATPase stain with the predominance of type II A fibers (71.4%). Lack of the mosaic pattern (type grouping) seen in 76% of the cases and an important mitochondrial proliferation with intrasarcoplasmatic lipid accumulation in 63% of the patients. In case of acute presentation of muscle weakness the. pathological substrate is quite different, i.e. presence of myositis mainly interstitial characterized by lymphoplasmocytic infiltrate and several spots of necrosis like Zencker degeneration. Based on histologic criteria, our data suggest that: the main determinant of muscle weakness seen in chronic alcoholic patients is neurogenic in origin (alcoholic polineuropathy); the direct toxic action of ethanol under the skeletal muscle is closely related to the mitochondrial metabolism; the so-called acute alcoholic myopathy has probably viral etiology.