RESUMEN
The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many different subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgroup. OBJECTIVE: To analyze the immunohistochemical expression of the main proteins of the dystrophin-glycoproteins associated complex in muscle biopsy of patients with different CMD phenotypes, for investigating a possible correlation with clinical and histopathological data. METHOD: Fifty-nine patients with CMD had clinical, histopathological and immunohistochemical data evaluated: 32 had MP-CMD, 23 CMD with merosin deficiency (MD-CMD), one Ullrich phenotype and three Walker-Warburg disease. RESULTS: Dystrophin and dysferlin were normal in all; among the patients with MD-CMD, merosin deficiency was partial in nine who showed the same clinical severity as those with total deficiency; the reduced expression of alpha-sarcoglycan (SG) and alpha-dystroglycan (DG) showed statistically significant correlation with severe MD-CMD phenotype. CONCLUSION: There is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expression of beta-DG had showed statistically significant correlation with severe phenotype and marked fibrosis on muscular biopsy.
A distrofia muscular congênita (DMC) é doença muscular heterogênea, de início precoce e padrão histopatológico de distrofia. Diversos subtipos foram geneticamente identificados e os fenótipos ainda não identificados pertencem em geral ao subgrupo de DMC merosina-positiva (MP). OBJETIVO: Analisar a expressão imuno-histoquímica das principais proteínas do complexo distrofina-glicoproteínas associadas na biópsia muscular de pacientes com diferentes fenótipos de DMC, a fim de investigar uma eventual correlação com o quadro clínico e histopatológico. MÉTODO: Cinqüenta e nove pacientes com DMC foram avaliados clinicamente e sua biópsia muscular, histopatologica e imuno-histoquimicamente: 32 eram MP, 23 merosina-deficiente (MD), um mostrava fenótipo Ullrich e três síndrome de Walker-Warburg. RESULTADOS: Distrofina e disferlina foram normais em todos; nove pacientes MD apresentavam déficit parcial de merosina, porém com a mesma gravidade clínica daqueles com deficiência total. CONCLUSÃO: A hipoexpressão de a-sarcoglicana (SG) and a-distroglycan (DG) se correlacionou estatisticamente com o grave fenótipo MD, assim indicando maior correlação entre a merosina e as referidas proteínas; entre os pacientes MP, apesar da hipoexpressão de b-DG ter se correlacionado significativamente com fenótipo e histopatologia mais grave, não houve correlação clínica/imuno-histoquímica valorizável.
Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Complejo de Proteínas Asociado a la Distrofina/metabolismo , Distrofias Musculares/metabolismo , Laminina/deficiencia , Brasil , Distribución de Chi-Cuadrado , Complejo de Proteínas Asociado a la Distrofina/genética , Distrofias Musculares/congénito , Estudios de Seguimiento , Fenotipo , Índice de Severidad de la Enfermedad , Sarcoglicanos/metabolismoRESUMEN
Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.
A distrofia muscular congênita (DMC) com hiperextensibilidade articular distal (fenótipo Ullrich) associa-se a mutações nos genes do colágeno VI e corresponde a um grave quadro congênito de herança autossômica recessiva e curso progressivo, ocasionalmente mostrando menor gravidade. OBJETIVO: Avaliar o quadro clínico dos pacientes com DMC tipo Ullrich que apresentam imunoexpressão baixa ou ausente do colágeno VI na biópsia muscular. RESULTADOS: Entre 60 pacientes com DMC, dois mostravam imunomarcação negativa do colágeno VI. Mostravam-se clinicamente essencialmente diferentes: o primeiro, com 8 anos de idade e três de seguimento mostra leve dificuldade motora; o segundo, com 14 anos de idade e 8 de seguimento, não deambula e apresenta insuficiência respiratória. O estudo molecular, realizado na Thomas Jefferson University por Pan et al., revelou no primeiro, no gene COL6A1, mutação típica da miopatia de Bethlem, que tem curso benigno e herança autossômica dominante; e no segundo a primeira mutação de efeito dominante e do gene COL6A1, previamente associado apenas à miopatia de Bethlem. CONCLUSÃO: A miopatia de Bethlem deve constar no diagnóstico diferencial da DMC tipo Ullrich, mesmo na ausência das típicas contraturas dos dedos; pode existir sobreposição dos fenótipos Ullrich e Bethlem.
Asunto(s)
Adolescente , Niño , Preescolar , Humanos , Masculino , Colágeno Tipo VI/deficiencia , Distrofias Musculares/genética , Heterogeneidad Genética , Biopsia , Colágeno Tipo VI/genética , Diagnóstico Diferencial , Distrofias Musculares/congénito , Distrofias Musculares/patología , Estudios de Seguimiento , Inmunohistoquímica , Inestabilidad de la Articulación/genética , Inestabilidad de la Articulación/patología , FenotipoRESUMEN
A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic grounds for identifying new subsets of congenital muscular dystrophy.
Asunto(s)
Encefalopatías/genética , Distrofias Musculares/genética , Atrofia , Encéfalo/patología , Encefalopatías/diagnóstico , Niño , Preescolar , Diagnóstico Diferencial , Distrofina/genética , Femenino , Estudios de Seguimiento , Humanos , Lactante , Laminina/genética , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/patología , Distrofias Musculares/diagnóstico , Distrofias Musculares/patología , Examen NeurológicoRESUMEN
We conducted an open, add-on study with topiramate (TPM) as adjunctive therapy in Lennox-Gastaut syndrome (LGS), to assess the long-term efficacy and safety and to evaluate quality of life (QL) measurements in the chronic use of TPM. We studied 19 patients (11 male; age ranging from 4 to 14 years) with uncontrolled seizures receiving 2-3 anti-epileptic drugs. Patients were followed up to 36 months of treatment. A questionnaire was used to query parents about QL. Seven patients completed the study at 36 months and seizure frequency was reduced > or = 75% in 4, and < 50% in 3 patients. Two children became seizure free for more than 24 months. Most side effects were CNS related, with the most frequent being somnolence and anorexia. These were generally transient. One patient dropped-out due to powder in the urine. None of the patients required hospitalization. At 36 months, patients' alertness (2/7), interaction with environment (5/7), ability to perform daily activities (5/7), and verbal performance (6/7) improved on TPM. We conclude that TPM may be useful as adjunctive therapy in the treatment of LGS. The efficacy of TPM was maintained in long-term treatment in more than 40% of patients, long term safety was confirmed and QL improved on TPM.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Fructosa/análogos & derivados , Adolescente , Anticonvulsivantes/farmacocinética , Niño , Preescolar , Femenino , Estudios de Seguimiento , Fructosa/farmacocinética , Fructosa/uso terapéutico , Humanos , Masculino , Proyectos Piloto , TopiramatoRESUMEN
We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
Asunto(s)
Catarata/diagnóstico , Discapacidad Intelectual/diagnóstico , Laminina/metabolismo , Distrofias Musculares/congénito , Distrofias Musculares/diagnóstico , Adolescente , Biopsia , Niño , Discapacidades del Desarrollo/diagnóstico , Distrofina/metabolismo , Femenino , Humanos , Inmunohistoquímica , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Sarcolema/metabolismoRESUMEN
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
Asunto(s)
Distonía/etiología , Síndrome de Kearns-Sayre/complicaciones , Anciano , Niño , ADN Mitocondrial/análisis , ADN Mitocondrial/genética , Distonía/fisiopatología , Eliminación de Gen , Humanos , Síndrome de Kearns-Sayre/genética , Síndrome de Kearns-Sayre/patología , Imagen por Resonancia Magnética , MasculinoRESUMEN
Children, 47, with various types of severe drug-resistant epilepsy were entered into a prospective, add-on, open trial with vigabatrin. Patients with West syndrome and idiopathic generalized epilepsies were excluded. Seven children had the drug withdrawn, five because of increase in seizure frequency and two because of adverse effects. Drug efficacy, measured according to seizure type, showed a 100% decrease in seizure frequency in 18.6% of partial seizures and 17.3% of the generalized seizures. There was a higher than 50% decrease in 39.5% of partial and 60.8% of generalized seizures, and less than 50% decrease or increase in seizure frequency in 41.8% and 21.8% of partial and generalized seizures, respectively. Vigabatrin mean dosage during phase 3 was 63.6 mg/kg per day (S.D. = 30.5), ranging from 19.3 to 110.5 mg/kg per day. Parametric statistical analysis (Student's t-test) of seizure frequency between phases 1 and 3 showed a significant decrease in seizure frequency for partial (P = 0.022), and generalized seizures (P < 0.0001). Drug-related adverse effects were observed in 18/47 cases (38.3%), consisting mainly of irritability, hyperactivity, dizziness, somnolence and gastrointestinal symptoms.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsias Parciales/tratamiento farmacológico , Epilepsia Generalizada/tratamiento farmacológico , Ácido gamma-Aminobutírico/análogos & derivados , Adolescente , Anticonvulsivantes/efectos adversos , Brasil , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Estudios Prospectivos , Vigabatrin , Ácido gamma-Aminobutírico/efectos adversos , Ácido gamma-Aminobutírico/uso terapéuticoRESUMEN
Myotonia is the phenomenon of decrease of muscular relaxation rate, after either a contraction or a mechanical or electrical stimulus. Congenital myotonias are hereditary affections and do not present muscular dystrophy. The current trend is to group them as ionic channels diseases, together with the periodic paralysis. The authors accompanied the cases of seven patients, six males and one female, with ages ranging from 16 to 48 years (average 27 years) and onset of symptoms between 1 and 10 years (average 5 years). These patients presented a myotonic phenomenon unleashed by intensive contraction and global muscular hypertrophy. Three patients were diagnosed as cases of Becker type generalized myotonia because they presented a recessive autosomic heredity and/or transient episodes of muscular weakness. Two patients fitted the description of Thomsen congenital myotonia, with a pattern of dominating autosomic heredity and/or absence of weakness episodes or worsening factors for their condition. Two patients presented fluctuating myotonia, which because worse in cold weather or at potassium intake. The clinical diagnosis was confirmed through complementary tests (electroneuromyography, muscle biopsy and DNA study). Each of the patients made use of different drugs, in the search of optimal lessening of their myotonia. There were five reports of amelioration with the use of diphenilhydantoine; one report with the use of carbamazepine; three reports with the use of acetazolamide; one report with the use of a calcium channel blocker; one report with the use of a beta-adrenergic; one report with the use of thiazide; and none with the use of quinidine/procainamide.
Asunto(s)
Miotonía Congénita/diagnóstico , Adolescente , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miotonía Congénita/tratamiento farmacológicoRESUMEN
We report clinical and pathological findings in 9 children affected by congenital muscular dystrophy with normal or borderline intelligence and hypodensity of cerebral white matter (CMD-HWM), also frequently called 'occidental or western form of cerebro-muscular dystrophy' (OCMD). Our patients have uniform, distinct, clinical presentation that includes: normal or subnormal intelligence, severe, slowly progressive motor disability, high rate of facial involvement and dysmorphic aspect, increased creatine kinase levels and variable degrees of abnormal, radiographic, cerebral white matter pattern. By comparing our cases with previous reports we suggest that this subtype of CMD is not uncommon in Brazil and it is represented by a particularly severe and homogeneous clinical picture with important motor disability. The immunohistochemical staining for merosin, performed on the muscle biopsy of 6 among 9 patients, showed that all are merosin negative.
Asunto(s)
Corteza Cerebral/patología , Laminina/deficiencia , Distrofias Musculares/patología , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Imagen por Resonancia Magnética , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/epidemiología , Tomografía Computarizada por Rayos XRESUMEN
Recently, a deficiency of merosin has been reported in patients with classical congenital muscular dystrophy (CMD), while other patients, with indistinguishable clinico-pathological features, do not present this deficiency, suggesting genetic heterogeneity. The purpose of the present investigation was to assess merosin distribution and quantity in 21 clinically well characterized Brazilian CMD patients, in order to: a) estimate the proportion of merosin-deficient cases in this group of patients; b) characterize phenotypically merosin-negative, as compared to merosin-positive patients. Merosin deficiency was found in 11 patients and all the seven who had been submitted to neuroimaging studies showed evidence of periventricular dysmyelination. A normal pattern of 43 DAG was found in all patients, which suggest that this protein is not preferentially involved in a third form of merosin-positive CMD. Results from the present study are further suggestive, but do not prove, that the association of merosin deficiency with white matter alterations represents a genetic entity with common clinical, laboratory and neuroimaging findings.
Asunto(s)
Encéfalo/fisiopatología , Enfermedades Desmielinizantes/fisiopatología , Distrofias Musculares/congénito , Distrofias Musculares/fisiopatología , Adolescente , Anticuerpos Monoclonales , Western Blotting , Niño , Preescolar , Distrofina/análisis , Humanos , Inmunohistoquímica , Lactante , Imagen por Resonancia Magnética , Músculos/química , Distrofias Musculares/diagnósticoRESUMEN
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans. Besides the clinical aspects of the atypical form presented by our patient, the efficacy of the more available drugs employed for the treatment of myotonia congenita is briefly discussed.
Asunto(s)
Miotonía Congénita/diagnóstico , Adolescente , Electromiografía , Femenino , Humanos , Miotonía Congénita/terapiaRESUMEN
We report the case of a child with myotonic dystrophy (DM) with symptoms beginning at the age of seven, whose genetic study showed an additional DNA fragment, greater than of his father, an asymptomatic carrier. The clinical and molecular analysis of this parent-child pair are probably the first described in Brazil, since the recent discovery of genetic abnormality in DM by American and European researchers, that explained the long-debated phenomenon of "anticipation" in this disease. The main advances in molecular genetics in DM and its correlation with increasing severity and earlier onset of the symptoms in successive generations of a family are commented briefly.
Asunto(s)
Distrofia Miotónica/genética , Niño , ADN/análisis , Humanos , Cariotipificación , MasculinoRESUMEN
The authors report two cases of infantile spinal muscular atrophy with atypical evolution diagnosed by means of EMG findings. The first one is a 10 years-old female child who has showed a distal predominium of the muscle weakness and atrophy. The second patient, a 7 year-old female child, has manifested within a period of 4 months a rapidly progressive tetraparesis that culminated in death after 10 months. The authors present the most accepted classifications of the illness and discuss the clinical manifestations of the two patients aiming to characterize the clinical forms, in accordance to the literature.
Asunto(s)
Atrofias Musculares Espinales de la Infancia/diagnóstico , Niño , Diagnóstico Diferencial , Femenino , Humanos , Pronóstico , Atrofias Musculares Espinales de la Infancia/fisiopatologíaRESUMEN
From 1962 to 1989, 40 infants with brain tumors and less than 2 years old were treated at the Department of Neurology of the Clinical Hospital of the University of São Paulo Medical School. The clinical and neuropathological findings were reviewed as to histological diagnosis, age, sex, signs and symptoms, therapy and outcome. Medulloblastoma was the most common histological type (n = 11), followed by ependymoma (n = 9), choroid plexus tumor (n = 6), astrocytoma (n = 3) and primitive neuroectodermal tumor (n = 2). The tumor was infratentorial in 21 infants, supratentorial in 18 and disseminated in 1.
Asunto(s)
Neoplasias Encefálicas/epidemiología , Adolescente , Factores de Edad , Encéfalo/patología , Encéfalo/cirugía , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/cirugía , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Meduloblastoma/diagnóstico , Meduloblastoma/epidemiología , Meduloblastoma/cirugía , Prevalencia , Estudios Retrospectivos , Factores Sexuales , Neoplasias Supratentoriales/epidemiología , Neoplasias Supratentoriales/cirugía , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
The authors report the case of a female 5-months-old child who presented from the age of two months delayed neuromotor development, marked hypotonia, general muscle weakness and bilateral palpebral ptosis. The muscle biopsy revealed many fibers with central nuclei and the diagnosis was centronuclear (myotubular) myopathy. The difficult histological characterization of this congenital myopathy and the great variability of clinical findings with light, moderate or severe involvement are analysed and discussed.
Asunto(s)
Enfermedades Musculares/congénito , Biopsia , Femenino , Histocitoquímica , Humanos , Lactante , Microscopía Electrónica , Músculos/metabolismo , Músculos/ultraestructura , Enfermedades Musculares/metabolismo , Enfermedades Musculares/patologíaRESUMEN
The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.
Asunto(s)
Encefalopatías Metabólicas/patología , Síndrome del Pelo Ensortijado/patología , Angiografía Cerebral , Corteza Cerebral/patología , Ceruloplasmina/análisis , Cobre/sangre , Cabello/patología , Humanos , Lactante , Masculino , Síndrome del Pelo Ensortijado/diagnóstico , Síndrome del Pelo Ensortijado/genética , Tomografía Computarizada por Rayos XRESUMEN
E relatado um caso de sindrome de Menkes, que acreditamos ser o primeiro descrito no Brasil. O paciente, menino de 15 meses, apresentava, desde o quinto mes de vida, pili torti, grave involucao do desenvolvimento neuropsicomotor e sindrome convulsiva. Os exames complementares evidenciaram ceruloplasmina e cobre sericos baixos, alteracoes arteriais e intensa atrofia cerebral difusa. O exame necroscopico confirmou este ultimo aspecto, observando-se despopulacao neuronal nas camadas mediocorticais do cerebro, no talamo e sobretudo no cerebelo, sede de lesoes intensas e particulares em nivel cortical. Acreditase que a sindrome de Menkes, de heranca recessiva ligada ao sexo, seja devida a um erro inato do metabolismo do cobre, primario ou secundario a alteracoes variaveis das proteinas que permitem o transporte de cobre aos diferentes tecidos. Os autores revisam os principais aspectos etiopatogenicos referidos na literatura
Asunto(s)
Lactante , Humanos , Masculino , Ceruloplasmina , Cobre , Síndrome del Pelo Ensortijado , Tomografía Computarizada por Rayos XRESUMEN
E relatado caso de hematoma primario de tronco cerebral. O paciente de 12 anos evoluiu bem, com remissao do quadro neurologico, apos cirurgia evacuadora. Os autores discutem os principais dados clinicos e o bom prognostico, o que esta de acordo com a literatura
Asunto(s)
Niño , Humanos , Masculino , Hemorragia Cerebral , Hematoma , Tronco Encefálico , Procedimientos Quirúrgicos OperativosRESUMEN
Foram levantados o quadro clinico e o diagnostico histologico relativos a 56 observacoes de pacientes com ate 15 anos de idade, portadores de tumores da fossa craniana posterior, internados na Clinica Neurologica da FMUSP, de 1962 a 1980. A casuistica inclui 44 meduloblastomas, 39 astrocitomas de cerebelo, 20 ependimomas, 45 gliomas de tronco cerebral, quatro tumores congenitos, dois neurinomas de nervo acustico, um hemangioblastoma e um sarcoma cerebelar. Foram discutidos os principais aspectos clinicos ligados ao meduloblastoma, astrocitoma de cerebelo, ependimoma e glioma de tronco cerebral