Relata-se o caso de uma jovem, heterozigota para doença de Fabry, que desenvolveu infartos talâmicos bilaterais por oclusão de vasos do sistema nervoso central. Três outros membros de sua família foram também avaliados. A doença de Fabry inclui-se entre as causas raras de acidente vascular cerebral em adultos jovens.

An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.

O presente estudo teve como objetivo a análise crítica dos critérios diagnósticos na degeneração hepatolenticular (DHL). Foram estudados 95 casos de DHL, com enfoque na caracterização clínica e laboratorial da doença. No aspecto clínico foram analisadas a variabilidade quanto ao modo de instalação da moléstia e a freqüência do anel de Kayser-Fleischer (K-F). Em relação aos exames complementares foram analisados os níveis de ceruloplasmina, cobre sérico, cobre urinário e aminoacidúria, o estudo radiológico e cintilográfico do esqueleto, a tomografia computadorizada de crânio e a biópsia hepática. Em 54,4% dos casos o quadro clínico inicial foi neurológico, em 31,1% hepático, em 14,4% psiquiátrico, em 7,8% ostearticular, em 2,2% oftalmológico (anel de K-F), em 1,1% hematológico (anemia hemolítica) e em 1,1% cardíaco. O anel de K-F estava presente em 84 dos 92 casos em que foi pesquisado (91,3%). Quanto aos resultados laboratoriais, hipoceruloplasminemia foi assinalada em 98,8% dos casos avaliados, hiperaminoacidúria em 94,7%, hipocupremia em 87,0%, hipercuprúria em 78,2%, osteoporose em 79,4%, alterações cintilográficas das articulações em 65,2%, e a tomografia de crânio, realizada em 11 casos, mostrava, em 2, áreas hipoatenuantes nos gânglios da base. Discute-se a importância dos exames complementares acima citados e do anel de K-F como elementos para a caracterização da DHL.

Ninety-five cases of hepatolenticular degeneration have been studied, focusing particularly the clinical and laboratory characterization of the disease. On the clinical viewpoint the variability of the starting symptoms and the frequency of the Kayser-Fleischer rings were analyzed. As regards the laboratory findings the ceruloplasmin, blood and urinary copper, and aminoaciduria levels have been evaluated, as well as the radiological and scintillographic study of joints and bones, cranial computerized tomography and liver biopsy. In 54.4% of the cases the opening clinical picture was neurological, in 31.1% hepatic, in 14.4% psychiatric, in 7.8% osteoarticular, in 2.2% ophtalmologic (Kayser-Fleischer rings), in 1.1% hematologic (hemolytic anemia), and in 1.1% cardiac. Kayser-Fleischer rings were present in 84 of the 92 cases in which they have been searched for (91.3%). Concerning the laboratory findings, hypoceruloplasminemia was found in 98.8% of the cases in which it was investigated, hyperaminoaciduria in 94.7%, hypocupremia in 87.0%, increased cupruresis in 78.2%, osteoporosis in 79.4%, scintillographic changes of the joints in 67.6%; the CT-scan, performed in 11 cases, showed low attenuation areas in the basal ganglia of 2 patients. The significance of the mentioned laboratory findings and the presence of the Kayser-Fleischer rings for the diagnosis of Wilson's disease is discussed.

É relatado o caso de um paciente de 14 anos, do sexo masculino, com esclerose cerebral difusa precedida em 7 anos de sinais de insuficiência do córtex supra-renal, com antecedentes familiares. Clinicamente a doença é caracterizada por deterioração mental, distúrbios da marcha e da visão, associados com insuficiência do córtex supra-renal. Confirmando os dados da literatura, em nosso caso o estudo anátomo-patológico revelou desmielinização e gliose difusa na substância branca cerebral, poupando as fibras subcorticais. Células inflamatórias são comuns e têm distribuição perivascular. Na zona fasciculada e reticular da supra-renal, células "balonadas" são evidentes, muitas delas apresentando citoplasma vacuolizado e com estriações. Inclusões lipídicas similares têm sido encontradas nas células de Schwann dos nervos periféricos e dos testículos. Os achados são comparados com vinte casos da literatura.

The case of a 14-year-old boy with "diffuse cerebral sclerosis", preceded by signs of primary adrenal cortical insufficiency for 7 years with familiar antecedents is reported. This disorder, named adrenoleukodystrophy, has a sex-lin(ed recessive inheritance. The clinical picture is characterized by mental deterioration, gait disturbances, visual impairment, associated with primary adrenal cortical insufficiency. Confirming the data from literature, in our case the pathological study showed myelin degeneration and diffuse gliosis in the cerebral white matter, with no involvement of subcortical fibers. Inflammatory cells are common, and have a perivascular distribution. In the fasciculata and reticular zones of the adrenal gland, "baloon-shaped" cells are evident, most of them presenting a vacuolized and striated cytoplasm. Similar lipidic inclusions have been found in the Schwann cells of the peripheral nerves and testis. The findings are compared with twenty cases from the literature.

O autor, revendo o conceito atual da etiopatogenia das mieloses funiculares, conclui que, na determinação do processo desmielinizante, além da carência de vitamina B12 e da acloridria gástrica, participam outros fatores, carenciais e/ou alérgicos. Baseado no estudo de 110 casos com lesões gástricas constitucionais (100 casos) ou adquiridas (10 casos), o autor discute o problema do diagnóstico. São consideradas as síndromes periférica, funicular dorsal, "piramidal" e encefálica. É ressaltada a importância do exame da sensibilidade vibratória, particularmente por método quantitativo, que revelou, em elevada percentagem dos casos, distúrbios da palestesia também nas mãos. Entre os exames complementares, é salientado o valor do hemograma, do mielograma, da dosagem da acidez gástrica, da determinação da absorção da vitamina B12 radioativa; são também consideradas as alterações electrencefalográficas e do liqüido cefalorraqueano. Os resultados terapêuticos em 44 casos são avaliados através do estudo semiquantitativo da sintomatologia neurológica. Embora a vitamina B12 tenha proporcionado maiores índices de melhora, os demais medicamentos (extrato hepático, ácido fólico e adrenocorticotropina) também influenciaram favoravelmente o quadro neurológico. Em vista da pequena representação numérica da casuística nos grupos correspondentes aos quatro esquemas terapêuticos, o autor não emite conclusão definitiva. Salienta, porém, que êsses resultados demonstram a necessidade de prosseguir nos estudos sôbre a etiopatogenia das mieloses funiculares, no sentido de esclarecer as numerosas incógnitas que ainda perduram.

After a review on the present concept of the etiopathogenesis of funicular myelosis (subacute combined degeneration of the spinal cord) the author states the conclusion that in the causation of the demyelinating process, besides the lack of vitamin B]2 and gastric achlorhydria, other deficiency or allergic factors take part. Based on the study of 110 cases with constitutional (100 cases) or acquired (10 cases) gastric lesions, the author discusses the problem of the diagnosis. Peripheral, dorsal funicular, "pyramidal", and encephalic syndromes are considered. The importance of the examination of the vibration sense, particularly by quantitative methods, is emphasized; in a great percentage of cases, disturbances of this sensation were also disclosed in the upper limbs. Among the laboratory findings, the value of blood count, bone-marrow smear, gastric acidity analysis, and the study of absorption of radioactive vitamin B12 is stressed. Changes in the electroencephalogram and cerebrospinal fluid are also considered. Therapeutic results in 44 cases are estimated by the semi-quantitative study of the neurological signs. Although vitamin B12 displayed higher degree of improvement, the other drugs (liver extract, folic acid and adreno-corticotropin) have also influenced favorably the neurological manifestations. Owing to the low numerical representation of cases in the groups corresponding to the four schemes of treatment, the author does not state a definite conclusion. But he emphasizes that these results demonstrate the need of further studies on the etiopathogenesis of funicular myelosis, in an attempt to settle the several questions still unsolved.

The author studies the significance of the accurate test of vibration sense for the diagnosis of some diseases of the nervous system. This work is divided into three main parts. First part - After reviewing the medical literature on the nature, pathways and physiopathology of the vibration sense, the author states the following conclusions : 1. Pallesthesia is an inespecific type of sensation. 2. The receptors for vibratory stimuli include both the superficial structures designed to record the cutaneous deformation, and the end-organs located in the muscles, ligaments, joints and periosteum. 3. On the light of more recent experimental work, carried on by neuro-physiologists and clinical neurologists, it becomes evident that the muscle spindles are the end-organs mostly concerned in the reception of vibratory stimuli. 4. These facts lead to the conclusion that vibration sense impulses run in the spinal cord by tactile and proprioceptive pathways. There are reasons to believe that lesions of the dorsal funiculi are more apt to interfere with the conduction of vibratory stimuli. 5. The dissociation between pallesthesia (lost or impaired) and joint sense (impaired or normal), frequently met with in several nervous diseases, must be ascribed to the fact that injury of nerve fibers lengthens the refractory period; the vibratory stimuli, which normally are transmitted almost in the limit of nerve fiber ability, are thus summed up and does not evoke the vibratory sensation any more. 6. The prevalence of kinesthesic over pallesthesic disturbances, which is said to occur in lesions of parietal lobes, can be explained by the discriminative character of the former type of sensation, as well as by a wider bilateral cortical representation of the vibration sense pathways. Second part - The analysis of variance of the vibratory perception thresholds measured with the "Bio-thesiometer" in 55 normal subjects lead the author to the following conclusions: 1. The vibration perception thresholds show wide variations according to the bodily area which is tested. 2. The variations of the vibration perception thresholds among subjects, although great, are lesser than the changes among bodily areas. 3. Among the bodily areas studied, the fingers and toes were the most sensitive to vibratory stimuli. 4. The vibration perception thresholds in the head are very high and are prone to great individual variations. 5. The least individual variations were shown by the bodily areas more sensitive to vibratory stimuli. 6. All these facts point to the selection of the fingers and toes as the bodily areas more suitable for the quantitative test of pallesthesia, with diagnostic purposes or to estimate the course of nervous diseases. 7. The variations of the vibration perception thresholds during regular time intervals (3 days) have not been significant in relation to the variations among bodily areas and subjects. 8. The average vibration perception thresholds of the left side of the body were lesser than those of the right side, although only in the great toes the difference was statistically significant. 9. It has been statistically proved that the method used in this work is a trustful procedure for the quantitative study of vibration sense. Third part - The study of 126 cases of nervous diseases due to lesions of various topographies, using the same quantitative method, allowed the following conclusions: 1. Vibration sense can be the only form of sensation impaired in several kinds of nervous diseases. 2. The quantitative test of pallesthesia has great semiotic significance since the increase of the vibration perception thresholds can be the only sign of damage of the sensory pathways. 3. Dissociation between pallesthesia and kinesthesia can be observed in several nervous diseases and as well in peripheral as in central lesions. 4. In cases of diabetic neuropathy the impairment of vibration sense is frequent and sometimes very conspicuous; it bears a close relation to the severeness of the whole neurologic picture. 5. In cases of herniated nucleus pulposus the test of vibration sense can cooperate in the diagnosis of the side of the protrusion. However, it must be emphasized that the changes in pallesthesia have not, in such cases, the semiotic significance which some authors have assigned to them. 6. In the subacute combined degenerations of the spinal cord, with constitutional or acquired achlorhydria, the test of vibration sense is imperative, owing to the early and marked impairment of this form of sensation. The quantitative method can disclose, in several cases, the existence of pallesthesic changes not shown by routine procedures, particularly those involving the upper limbs. 7. In poliradiculoneuritis the vibration sense is deeply impaired, even in the upper limbs, where other forms of sensation can be normal by routine examination. 8. In trigeminal nerve lesions the quantitative test of vibration sense is of little semiotic significance, owing to the great variability of the thresholds in the head and to the frequent confusion between vibration and auditory senses. In the four cases tested the increase of the thresholds was slight, even in two cases with associated facial palsy. 9. In cases of parietal lobe injuries, including two cases of hemisphe-rectomy, the impairment of vibration sense is remarkable and coincident or not with changes in the joint sense. 10. In other diseases of the nervous system, the quantitative test of vibration sense has proved worthful for the diagnosis, either as a positive or sometimes as a negative finding.

Os autores apresentam os resultados imediatos do emprêgo do ACTH em 4 casos de neuropatía desmiel in izante aquílica. Justificam o uso dêsse hormônio em vista da possível patogenia alérgica dos processos desmielinizantes primarios. O ACTH foi administrado por via intravenosa, sem qualquer outra medicação associada que pudesse interferir nos resultados. Êstes foram avaliados do ponto de vista quantitativo e evidenciaram discreta ação benéfica do hormônio, avaliada em 28,8%, em média. A decisão quanto ao efeito do ACTH nas mieloses funiculares só será possível após maior experiência, baseada em mais volumosa casuística e no segui- mento dos pacientes, bem como no estudo comparativo dêsses resultados com os obtidos com o emprêgo dos demais medicamentos de uso corrente.

Report on the immediate results of the use of ACTH in 4 cases of achylic demyelinating neuropathy. This treatment is justified by the possible allergic pathogenesis of the primary demyelinating processes. Dayly dosis of 12.5 mgm of corticotropin were given by continuous drip method, without any other associated drug which could interfere in the results. These were estimated on a semi-quantitative basis and evidenced slight beneficial effects of the hormone, which averaged 28.8 per cent. The accurate evaluation of the effects of corticotropin in subacute combined degeneration of the cord demands larger experience, based on greater number of cases and follow up of the patients, as well as the comparative study of such effects and the results obtained with classic treatment (liver extract, folic acid and vitamin B12).

Estudo da evolução dos quadros liquóricos em 50 casos de neurossífilis submetidos aos seguintes processos terapêuticos: 1) malária e arsênico; 2) penicilina isolada; 3) penicilina, piretoterapia e arsênico; 4) penicilina e piretoterapia; 5) arsenoterapia isolada. Entre os dados fornecidos pelo exame do liqüido cefalorraqueano, só constituíram objeto de estudo a cito-metria, a taxa de proteínas, a reação do benjoim coloidal e as reações de desvio de complemento para sífilis. Em 34% dos casos foi obtido retorno à normalidade; em 42%, resultados satisfatórios; em 22%, resultados indefinidos; em 2%, falência do tratamento e recidiva. A aplicação da estatística t aos resultados liquóricos revelou: a) significância das diferenças entre os valores iniciais e finais da citometria, da proteinorraquia e da reação do benjoim coloidal, quer nos 45 casos, quer nos casos com 6 meses de seguimento, quer ainda nos três principais grupos terapêuticos; b) a comparação das médias finais da citometria nestes três grupos não revelou diferenças significantes: c) quanto à taxa de proteínas e à reação do benjoim, o mesmo processo comparativo revelou não haver significância entre os resultados dos grupos 1 e 3, enquanto que o grupo 2 diferiu significantemente dos demais; d) não houve diferença significante nas percentagens de negativaçao das reações de desvio de complemento, por qualquer dos três métodos de tratamento; e) foi significante a diferença entre as percentagens de negativaçao da reação de Wassermann e da de Steinfeld. Os resultados do estudo estatístico levam, pois, à conclusão de que os efeitos determinados pela penicilinoterapia isolada (grupo 2), embora eqüivalentes, no tocante à citometria, aos obtidos pelos demais méte dos de tratamento, foram superiores no referente à taxa de proteínas e à reação do benjoim coloidal. Este fato surpreendeu-nos, pois esperávamos que, se predomínio houvesse entre os três processos, êle deveria caber ao grupo 3, que consiste na soma dos meios terapêuticos utilizados nos grupos 1 e 2. Dados os riscos inerentes à malarioterapia, conclui-se que o tratamento atual de escolha, em casos de neurolues, é representado pelo emprego exclusivo da penicilina, em doses elevadas. A substituição da penicilina cristalina pela procainada, parece possível à vista da experiência dos autores americanos.

Therapeutic results in 50 cases of neurosyphilis Cerebrospinal fluid changes were studied in 50 cases of neurosyphilis, which were treated as follows: 1) malaria and arsenotherapy, 10 cases; 2) penicillin alone, 13 cases; 3) penicillin, fever and arsenotherapy, 21 cases; 4) penicillin and fever therapy, 3 cases; 5) arsenotherapy, 3 cases. Results of treatment were evaluated by the study of cell count, total protein contents, colloidal benzoin test and complement fixation tests for syphilis with heart antigen (Wassermann test) and human brain antigen (Steinfeld test). Return to normality was achieved in 34 per cent of the cases; satisfactory results, in 42 per cent; indefinite response, in 22 per cent; failure of treatment, in 2 per cent. The use of t statistics for the evaluation of results evidenced: a) significance of differences between inicial and final means of the cell count, total protein contents and colloidal benzoin test in the whole group of patients, in the 23 cases with 6 months of follow up and in the three main therapeutic groups; b) non significant differences between the final means of the cell count in these therapeutic groups; c) in what regards the total protein contents and the colloidal benzoin test, the statistical study of final means revealed no significant differences between groups 1 and 3, whether group 2 differed significantly from the others; d) there was not significant differences in the percentages of negativation of complement fixation tests in the three therapeutic groups; e) the differences in the percentages of negativation of complement fixation test with cardiac antigen (Wassermann test) and human cerebral antigen (Steinfeld test) were significant. These results lead to the conclusion that penicillin therapy alone, though equivalent to the other methods of treatment in what refers to the cell count, is more effective concerning the total protein contents and the colloidal benzoin test. This is surprising because method 3, which is the sum of methods 1 and 2, was supposed to be more effective. Considering the dangers involved in malariatherapy, penicillin alone is thus the treatment of choice for neurosyphilis, in total doses of ten to fifteen million units. Replacement of crystalline by procaine penicillin (which is on study in the Department of Neurology) seems to be possible according to the experience of American writers.

Foram determinadas, em 11 casos de anemia megaloblástica, aquílica, com degeneração dorsolateral da medula, as taxas de colesterol no sôro e de fosfolípides e fósforo inorgânico no sôro e lìquor, antes e após tratamento pela vitamina B12. As dosagens foram correlacionadas ao quadro hematológico. As cifras médias obtidas revelam a existência de normocolesterolemia, hiperfosfatidemia, hiperfosforraquia e hipofosfatemia na neuranemia; o estudo particularizado de cada caso mostra que, nas anemias mais graves, esses constituintes atingem níveis muito baixos. Após o tratamento, verifica-se aumento de tôdas as taxas médias; individualmente, observa-se que as variações são, em geral, concordantes, as melhoras hematológicas traduzindo-se por elevação do teor de colesterol e fosfolípides no sangue e, menos regularmente, por aumento do fósforo inorgânico no sangue e líquor.

In 11 cases of megaloblastic, achylic anemia with subacute combined degeneration of the spinal cord, the author has estimated the blood contents of cholesterol and the blood and cerebrospinal fluid contents of phospholipids (in lecithin) and inorganic phosphorus, before and after treatment with vitamin B12. The estimations have been correlated to the hematologic condition. The mean amounts estimated show normal blood cholesterol, increased blood phosphatides and cerebrospinal fluid inorganic phosphorus and decreased blood inorganic phosphorus in neuroanemia; the study of each case shows that the cases of more severe anemia exhibited the lowest levels. After treatment, all the mean amounts increase. Individually, it is evidenced that the variations are generally concordant; the hematologic improvement is followed by a rise of the blood contents of cholesterol and phospholipids and, less consistently, by increase of the blood and cerebrospinal fluid inorganic phosphorus.

Report of a case of pernicious anemia with subacute combined degeneration of the spinal cord. The symptoms began in 1946, at the age of 18, with paresthesias in the hands and feet and weakness in the legs, but no objective somatic sign was evidenced at a medical examination performed in April 1948. About four months later (last days of July), the patient suddenly presented a clinical picture of transverse myelitis, the level of anesthesia reaching T3; death occurred in September 3rd, with bronchopneumonia. Pathological examination disclosed a typical subacute combined degeneration of the cord. The patient was feeble-minded, and his father suffers also of pernicious anemia and subacute combined degeneration of the spinal cord. The authors discuss the heredofamilial aspect, the early onset and the acute evolution of the disease.

Les auteurs étudient un cas d'anémie pernicieuse compliquée par la dégenérescence combiné subaig de la moelle. La maladie a commentée en 1946, à 1'âge de 18 ans, par faiblesse des jambes et paresthésies des mains et des pieds. Un éxamen clinique realisé en Avril 1948, pourtant, n'a pas montré l'existence de signes somatiques objectifs. Seulement quatre mois plus tard (fin de Juillet), le malade a presenté tout à fait brusquement un syndrome clinique de section transverse de la moelle, dont l'anesthésie montait jusqu'à la limite de T3. II est décedé le 3 de Septembre, par bronchopneumonia À l'autopsie on a rencontré des lésions caracteristiques de la dégenérescence combinée de la moelle. Le malade était un arrieré mental et son père souffrait aussi d'anémie pernicieuse et dégenérescence subaig de la moelle. Les auteurs étudient les aspects héredo-familiales, le début précoce et l'évolution aig de la maladie.