Por avaliação retrospectiva, discriminam-se no presente estudo os diagnósticos sindrômicos topográficos e etiológicos aos quais se conseguiu chegar em 209 casos de neuropatias periféricas. A anamnese e o exame clínico-neurológico foram fundamentais para a realização dos diagnósticos sindrômicos e topográficos. A eletromiografia teve papel relevante, particularmente no que se refere aos diagnósticos topográficos. Os diagnósticos etiológicos dependeram, adicionalmente, de outros exames complementares, dentre os quais se destacam: glicemia e curva glicêmica; avaliação nutricional; avaliação familiar; biópsias de nervo, pele, faringe e seio maxilar; teste qualitativo para a presença de porfirinas na urina; ácido delta-aminolevulínico e porfobilinogênio urinários; exames radiológicos. As polineuropatias mais frequentemente encontradas foram as: etílico-carenciais, diabéticas, inflamatórias desmielinizantes agudas e hereditárias. As síndromes do túnel do carpo, as lesões traumáticas do VII nervo craniano e as neuralgias do trigêmeo foram os diagnósticos mais frequentes entre os de mono-neuropatias. A hanseníase, as lesões traumáticas! do plexo braquial e a síndrome do desfiladeiro torácico predominaram entre as multineuropatias.

A retrospective study was conducted to identify the syndromic, topographic and etiological diagnoses made for a group of 209 patients with peripheral neuropathies. Anamnesis and clinical-neurological examination were of fundamental importance for the syndromic and topographic diagnoses. Electromyography played an important role, especially with respect to the topographic diagnoses. The etiological diagnoses depended on additional complementary tests such as: blood glucose levels and blood glucose tolerance test; nutritional evaluation; family evaluation; nerve, skin, pharynx and maxillary sinus biopsies; qualitative tests for the presence of porphyrins in urine; urinary levels of delta-aminolevulinic acid and porphobilinogen; and radiological examinations. The most frequently encountered polyneuropathies were those consequent to alcoholism or to diabetes, and those of the acute demyelinating inflammatory or hereditary type. Among the cases of mononeuropathy, the most frequently diagnosed conditions were carpal tunnel syndromes, traumatic injury to the VII cranial nerve, and trigeminal neuralgias. Leprosy, brachial plexus injury and thoracic outlet compression syndrome predominated among the multineuropathies.

O presente estudo foi planejado com a finalidade de avaliar a influência dos exames clínicos e complementares em relação ao diagnóstico das neuropatías periféricas. Avaliação laboratorial foi realizada em 81,8% dos pacientes, eletromiografia em 47,4% e biópsia em 22,5%. O diagnóstico sindrômico foi realizado em 99,0%, o topográfico em 98,6% e o etiológico em 73,2%. Foram solicitados em média 4,8 exames laboratoriais por paciente e, dos 93 diferentes tipos de exames pedidos, 36 foram sempre normais. A importância dos achados é discutida.

The present study was undertaken to evaluate the influence of clinical examination and complementary tests on the diagnosis of peripheral neuropathies. Most of the patients (81.8%) were submitted to laboratory tests, 47.4% were submitted to electromyography, and 22.5% to biopsy. A syndromic diagnosis was made in 99.0% of the patients, topographic diagnosis in 98.6%, and etiological diagnosis in 73.2%. An average of 4.8 tests per patient were requested and 36 of the 93 different tests always gave normal results. The importance of the findings is discussed.

Em 35 dentre os 209 pacientes (acometidos por neuropatias periféricas não se conseguiu estabelecer o diagnóstico etiológico. A média de idade foi 37,7 anos e a faixa etária preferencialmente acometida, entre 20 e 50 anos. A investigação laboratorial desses pacientes foi mais extensa que a dos com diagnóstico definido. A proporção entre exames laboratoriais normais e anormais foi 11:1. Os diagnósticos topográficos principais foram: poli-neuropatias axonais, 5 casos; multineuropatias e radiculopatias, 3 casos cada. Nossos adiados são discutidos e confrontados aos da literatura em relação às neuropatias de diagnóstico indefinido.

No etiological diagnosis was obtained, for 35 of 200 patients studied. Mean patient age was 37,7 years and the preferentially affected age range was 20 to 50 years. Laboratory investigation was more extensive among these patients than among patients with a defined diagnosis. An 11:1 ratio was obtained between normal and abnormal laboratory tests. The major topographic diagnoses were: axonal polyneuropathies, 5 cases; multineuropathies and radiculopathies, 3 cases each. The present findings are discussed and compared with the literature concerning neuropathies of undefined diagnosis.

O seguimento de 12 pacientes apresentando síndrome de Lennox-Gastaut com início após os 6 anos de idade, durante o período médio de 2 anos e 6 meses, permitiu a identificação dos seguintes tipos de crises epilépticas: tônicas, hemitônicas, atônicas, mioclono-atônicas, ausências atípicas, parciais com generalização secundária, tônico-clônicas, parciais com automatismos, versivas e ausências típicas. Durante o primeiro ano de seguimento houve predomínio de crises tônicas, ausências atípicas, crises tônico-clônicas e atônicas, respectivamente. No terceiro ano de crises tônicas, tônico-clônicas, hemitônicas e ausências atípicas. O estudo das crises segundo a frequência evidenciou predomínio de uma ou mais crises por dia e de uma a 6 por semana. Na evolução, as modificações de frequência ocorreram, em geral, no sentido da diminuição do número de crises. A comparação de nossos achados com os da literatura sobre síndrome de Lennox-Gastaut com início tardio evidencia, em nossa casuística, frequência mais elevada das crises tônicas, ausências atípicas e das crises hemigeneralizadas. Essas manifestações são, mais comumente, encontradas nos pacientes com síndrome de Lennox-Gastaut de início anterior aos 6 anos.

Twelve patients with Lennox-Gastaut syndrome starting after 6 years of age were followed for a mean period of 2 years and 6 months. On the average, 6 clinical evaluation were carried out per year. At the time of each evaluation, the characteristics of the epileptic seizures were recorded as described by two or more relatives and/or as witnessed by the observers. The frequency of the seizures and their relationship with the sleep-wakefulness cycle were also recorded. Critical clinical manifestations were observed in 8 patients while they were hospitalized, and electroencephalograms were taken. The characteristics of the seizures which occurred during electroencephalo-graphic examination were recorded on the paper concomitantly with the graphic alterations. The following types of epileptic seizures were identified: tonic, hemitonic, atonic, myoclonic-atonic, atypical absences, partial with secondary generalization, tonic-clonic, partial with automatisms, versive, and typical absences. During the first year of the study there was a predominance of tonic seizures, atypical absences, and tonic-clonic and atonic seizures, while during the third year there was a predominance of tonic, tonic-clonic, and hemitonic seizures, and atypical absences. The study of the seizures as to frequency showed predominance of one or more seizures per day and of 1 to 6 per week. During the evolution of the study, the modification in frequency occurred in general in the direction of a decrease in number of seizures. Comparison of our findings with the data in the literature on the Lennox-Gastaut syndrome of late onset shows a more elevated frequency of tonic seizures, atypical absences and hemigeneralized seizures in our group. The manifestations are more commonly encountered in patients with syndrome of Lennox-Gastaut of onset before 6 years of age.