Background: Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the expansio... more Background: Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the expansion of an ATTCT pentanucleotide repeat. Its clinical features include ataxia and, in some cases, epileptic seizures. There is, however, a dearth of information about its cognitive deficits and the neural bases underpinning them. Objectives: The objectives of this study were to characterize the performance of spinocerebellar ataxia type 10 patients in 2 cognitive domains typically affected in spinocerebellar ataxias, memory and executive function, and to correlate the identified cognitive impairments with ataxia severity and cerebral/cerebellar cortical thickness, as quantified by MRI. Methods: Memory and executive function tests were administered to 17 genetically confirmed Mexican spinocerebellar ataxia type 10 patients, and their results were compared with 17 healthy matched volunteers. MRI was performed in 16 patients. Results: Patients showed deficits in visual and visuospatial short-term memory, reduced storage capacity for verbal memory, and impaired monitoring, planning, and cognitive flexibility, which were ataxia independent. Patients with seizures (n = 9) and without seizures (n = 8) did not differ significantly in cognitive performance. There were significant correlations between short-term visuospatial memory impairment and posterior cerebellar lobe cortical thickness (bilateral lobule VI, IX, and right X). Cognitive flexibility deficiencies correlated with cerebral cortical thickness in the left middle frontal, cingulate, opercular, and temporal gyri. Cerebellar cortical thickness in several bilateral regions was correlated with
We report a case of histology-proven pleomorphic adenoma of the parapharyngeal space in a 20-year... more We report a case of histology-proven pleomorphic adenoma of the parapharyngeal space in a 20-year-old man. This case was unusual in that a massive amount of dystrophic calcification was scattered throughout the tumor. The patient underwent successful surgical resection, and he exhibited no signs of recurrence during follow-up. Literature about such an unusual presentation is scarce.
Pseudo-aneurismas são uma afecção arterial rara. Os autores destacam a raridade da ocorrência de ... more Pseudo-aneurismas são uma afecção arterial rara. Os autores destacam a raridade da ocorrência de pseudo-aneurisma da artéria carótida comum pós-traumático e a associação de pseudo-aneurisma com osteocondroma femoral. Enfatizam a importância dos métodos por imagem, em especial a angiotomografia, no diagnóstico de afecções vasculares, como na ocorrência de pseudo-aneurismas. Realizam, ainda, revisão bibliográfica pertinente ao assunto.
O envolvimento do sistema nervoso central em pacientes com lúpus eritematoso sistêmico é freqüent... more O envolvimento do sistema nervoso central em pacientes com lúpus eritematoso sistêmico é freqüentemente relatado. Os exames de tomografia computadorizada e ressonância magnética demonstram achados como atrofia cerebral, infarto cerebral e/ou hemorragia intracraniana. Calcificações intracranianas maciças em pacientes com lúpus eritematoso sistêmico são raras. Os autores apresentam um paciente com lúpus eritematoso sistêmico e crises convulsivas, cuja tomografia computadorizada demonstrou extensas calcificações nos gânglios da base e focos de calcificação nos lobos frontais. A ressonância magnética revelou imagens hiperintensas na seqüência FLAIR e hipointensas em gradiente eco T2* na topografia dos gânglios da base.
Aim:To demonstrate diagnostic imaging of an extremely rare presentation of bilateral narrow dupli... more Aim:To demonstrate diagnostic imaging of an extremely rare presentation of bilateral narrow duplication of the internal auditory canal.Case report:An adolescent boy with profound sensorineural hearing loss presented for hearing rehabilitation. Imaging studies (i.e. multidetector computed tomography and magnetic resonance imaging) clearly demonstrated bilateral duplication of the internal auditory canals, with narrowing of the lower canals, unilateral cochlear and vestibular dysplasia, bilateral superior semicircular canal malformation, and bilateral absence of the posterior semicircular canals.Conclusion:To our knowledge, this is only the third such case described in the literature. Considering that the vestibulocochlear nerve has been unable to be demonstrated in almost all cases of duplicated internal auditory canal (unilateral and bilateral), our case supports the hypothesis that vestibulocochlear nerve aplasia or hypoplasia leads to internal auditory canal stenosis. We consider ...
The authors present an unusual case of a 13-yr-old boy with a 3-mo history of seizures. A CT scan... more The authors present an unusual case of a 13-yr-old boy with a 3-mo history of seizures. A CT scan showed a contrast-enhancing mass located in the left temporal lobe. The patient underwent a stereotatic-guided craniotomy; intraoperative cytological diagnosis was performed by the smear technique, showing a pleomorphic xanthoastrocytoma. The tumor was totally resected. Definitive diagnosis was established by examination of paraffin-embedded material. Six months after the surgical intervention, the patient is doing well, with no radiological evidence of recurrence. The cytological differential diagnosis of giant cell lesions of the central nervous system is emphasized.
O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a forma de doença... more O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a forma de doença disseminada. Raramente, a doença pode ocorrer sob a forma de histoplasmomas, que simulam tumores do sistema nervoso central. Mais raro ainda é a ocorrência de histoplasmomas em pacientes imunocompetentes como única manifestação desta infecção. Neste relato é apresentado um paciente masculino de 13 anos com cefaléia, vômitos, redução da acuidade visual e auditiva à esquerda e hemiparesia à direita. A ressonância magnética mostrou lesão expansiva com impregnação anelar de contraste, localizada na região talâmica, hipotalâmica e quiasmática à esquerda. Foi realizada biópsia estereotáxica e a avaliação histológica do material definiu o diagnóstico de histoplamose. Iniciou-se tratamento com fluconazol, com melhora clínica importante após 6 meses do início do tratamento.
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis h... more We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.
OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasiz... more OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imaging (MRI) findings at initial evaluation and at the follow-up. CASE REPORT: Five year-old boy, who was asymptomatic, presented with diagnosis of X-ADL for MRI evaluation. The initial brain MRI showed a focal area of enhancement at the splenium of the corpus calosum. One year later, the follow-up MRI showed a progression of the corpus calosus lesion, as well as other lesions in the parietal and occipital lobes. CONCLUSION: The brain MRI follow-up of patients with X-ADL is important to show the progression of the lesions.
A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrat... more A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrated motor disturbances. Laboratorial investigation showed elevated levels of alpha-fetoprotein in serum and cerebrospinal fluid. The CT scan revealed a heterogeneous mass at the pineal region. At the MRI, this lesion was hypointense on T1 and hyperintense on T2-weighted images, enhancing after contrast administration. The patient underwent a surgical biopsy, which defined the diagnosis of yolk sac tumor. We emphasize the correlation of neuroimaging and pathological findings of this rare pineal region tumor.
OBJETIVE: To describe the CT scan findings of 21 thrombocytopenic patients with central nervous s... more OBJETIVE: To describe the CT scan findings of 21 thrombocytopenic patients with central nervous system (CNS) hemorrhage. METHOD: Retrospective study of the computed tomography (CT) of 21 platelet-depleted patients with CNS hemorrhage. One patient presented two episodes of hemorrhagic episode with different intervals. The clinical data were obtained by the review of the medical records. Two radiologists analyzed the films and reached the decisions by consensus. The following findings were studied: type of bleeding, number of lesions, topography, laterality, size and associated findings. RESULTS: Intraparenchymal hemorrhage (IPH) was the most common findings, found in 20 cases, being six of them associated with subarachnoid and intraventricular hemorrhages. The size of the lesions varied between 1.8 and 10.5 cm. The parietal lobes were more commonly affected (n=11, 50%), followed by the temporal (n=7, 31.8%), frontal (n=7, 31.8%) and occipital (n=2, 9.09%) lobes. In 15 cases (68.2%) t...
Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30% of all ped... more Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30% of all pediatric brain tumors, and less than 1% of CNS adult neoplasms. We report the imaging findings of 8 adult patients with medulloblastoma. The mean age was 35 years, ranging from 20 to 65 years, and the male:female rate was 3:5. The tumors were predominantly lateral (63%), hyperdense on CT scans (83%), and on the MRI, hypointense on T1 (100%) and hyperintense on T2 (80%) weighted images. It was seen intratumoral necrosis and cysts in six cases and calcifications in three. Hydrocephalus was observed in 5 cases and brain stem invasion in four. The imaging findings of medulloblastomas in adults are different of those in child, and also nonspecific. Although these tumors are uncommon in adults, they must be considered in the differential diagnosis of cerebellar masses in the posterior fossa of this age group.
Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de l... more Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de lesões no cérebro e leptomeninges, com consequente aparecimento de sintomas, está relacionado com a resposta imune do hospedeiro, ao número e à fase de involução dos parasitas . Relatamos os achados anatomopatológicos durante a necrópsia em 27 casos de neurocisticercose, que corresponderam a 3,1% dos casos necropsiados no serviço. 77% dos pacientes eram masculinos, com idade variando entre 18 e 85 anos. Em 26% dos casos havia história de alcoolismo. A análise clinico-patológica mostrou que 50% dos casos eram da forma assintomática, 11% da forma epiléptica, 11% da forma intraventricular e 11% da forma combinada. 33% dos pacientes apresentaram crise epiléptica como fator agravante do quadro clínico. O cisticerco era único em 60% dos casos, a forma cellulosae estava presente em 82% e a racemosa em 7% dos casos, sendo os 11% restantes portadores da forma combinada. Em 30% dos pacientes a caus...
Tuberculosis is an infectious disease caused by Mycobacterium tuberculosis, which has the pulmona... more Tuberculosis is an infectious disease caused by Mycobacterium tuberculosis, which has the pulmonary form as the most common presentation. Dissemination of the disease is common in immunocompromised patients, but immunodeficiency related to pregnancy severe enough to cause dissemination of the Mycobacteria is exceedingly rare. When dissemination occurs, any organ may be affected and in central nervous system, the infection presents as meningitis and single brain parenchyma tuberculomas. We report the case of a 17 year-old woman at the 34th week of pregnancy with respiratory and high intracranial pressure symptoms. On the day before admission she had a sudden onset of paraparesis and urinary retention and ten hours after the delivery she presented with paraplegia . The chest X-ray and CT scan were compatible with miliary tuberculosis. The cranial CT scan revealed numerous rounded hypodense lesions located at cerebral and cerebellar hemispheres, which presented ring-like enhancement af...
Background: Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the expansio... more Background: Spinocerebellar ataxia type 10 is a neurodegenerative disorder caused by the expansion of an ATTCT pentanucleotide repeat. Its clinical features include ataxia and, in some cases, epileptic seizures. There is, however, a dearth of information about its cognitive deficits and the neural bases underpinning them. Objectives: The objectives of this study were to characterize the performance of spinocerebellar ataxia type 10 patients in 2 cognitive domains typically affected in spinocerebellar ataxias, memory and executive function, and to correlate the identified cognitive impairments with ataxia severity and cerebral/cerebellar cortical thickness, as quantified by MRI. Methods: Memory and executive function tests were administered to 17 genetically confirmed Mexican spinocerebellar ataxia type 10 patients, and their results were compared with 17 healthy matched volunteers. MRI was performed in 16 patients. Results: Patients showed deficits in visual and visuospatial short-term memory, reduced storage capacity for verbal memory, and impaired monitoring, planning, and cognitive flexibility, which were ataxia independent. Patients with seizures (n = 9) and without seizures (n = 8) did not differ significantly in cognitive performance. There were significant correlations between short-term visuospatial memory impairment and posterior cerebellar lobe cortical thickness (bilateral lobule VI, IX, and right X). Cognitive flexibility deficiencies correlated with cerebral cortical thickness in the left middle frontal, cingulate, opercular, and temporal gyri. Cerebellar cortical thickness in several bilateral regions was correlated with
We report a case of histology-proven pleomorphic adenoma of the parapharyngeal space in a 20-year... more We report a case of histology-proven pleomorphic adenoma of the parapharyngeal space in a 20-year-old man. This case was unusual in that a massive amount of dystrophic calcification was scattered throughout the tumor. The patient underwent successful surgical resection, and he exhibited no signs of recurrence during follow-up. Literature about such an unusual presentation is scarce.
Pseudo-aneurismas são uma afecção arterial rara. Os autores destacam a raridade da ocorrência de ... more Pseudo-aneurismas são uma afecção arterial rara. Os autores destacam a raridade da ocorrência de pseudo-aneurisma da artéria carótida comum pós-traumático e a associação de pseudo-aneurisma com osteocondroma femoral. Enfatizam a importância dos métodos por imagem, em especial a angiotomografia, no diagnóstico de afecções vasculares, como na ocorrência de pseudo-aneurismas. Realizam, ainda, revisão bibliográfica pertinente ao assunto.
O envolvimento do sistema nervoso central em pacientes com lúpus eritematoso sistêmico é freqüent... more O envolvimento do sistema nervoso central em pacientes com lúpus eritematoso sistêmico é freqüentemente relatado. Os exames de tomografia computadorizada e ressonância magnética demonstram achados como atrofia cerebral, infarto cerebral e/ou hemorragia intracraniana. Calcificações intracranianas maciças em pacientes com lúpus eritematoso sistêmico são raras. Os autores apresentam um paciente com lúpus eritematoso sistêmico e crises convulsivas, cuja tomografia computadorizada demonstrou extensas calcificações nos gânglios da base e focos de calcificação nos lobos frontais. A ressonância magnética revelou imagens hiperintensas na seqüência FLAIR e hipointensas em gradiente eco T2* na topografia dos gânglios da base.
Aim:To demonstrate diagnostic imaging of an extremely rare presentation of bilateral narrow dupli... more Aim:To demonstrate diagnostic imaging of an extremely rare presentation of bilateral narrow duplication of the internal auditory canal.Case report:An adolescent boy with profound sensorineural hearing loss presented for hearing rehabilitation. Imaging studies (i.e. multidetector computed tomography and magnetic resonance imaging) clearly demonstrated bilateral duplication of the internal auditory canals, with narrowing of the lower canals, unilateral cochlear and vestibular dysplasia, bilateral superior semicircular canal malformation, and bilateral absence of the posterior semicircular canals.Conclusion:To our knowledge, this is only the third such case described in the literature. Considering that the vestibulocochlear nerve has been unable to be demonstrated in almost all cases of duplicated internal auditory canal (unilateral and bilateral), our case supports the hypothesis that vestibulocochlear nerve aplasia or hypoplasia leads to internal auditory canal stenosis. We consider ...
The authors present an unusual case of a 13-yr-old boy with a 3-mo history of seizures. A CT scan... more The authors present an unusual case of a 13-yr-old boy with a 3-mo history of seizures. A CT scan showed a contrast-enhancing mass located in the left temporal lobe. The patient underwent a stereotatic-guided craniotomy; intraoperative cytological diagnosis was performed by the smear technique, showing a pleomorphic xanthoastrocytoma. The tumor was totally resected. Definitive diagnosis was established by examination of paraffin-embedded material. Six months after the surgical intervention, the patient is doing well, with no radiological evidence of recurrence. The cytological differential diagnosis of giant cell lesions of the central nervous system is emphasized.
O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a forma de doença... more O acometimento cerebral pela histoplasmose é raro, ocorrendo mais comumente sob a forma de doença disseminada. Raramente, a doença pode ocorrer sob a forma de histoplasmomas, que simulam tumores do sistema nervoso central. Mais raro ainda é a ocorrência de histoplasmomas em pacientes imunocompetentes como única manifestação desta infecção. Neste relato é apresentado um paciente masculino de 13 anos com cefaléia, vômitos, redução da acuidade visual e auditiva à esquerda e hemiparesia à direita. A ressonância magnética mostrou lesão expansiva com impregnação anelar de contraste, localizada na região talâmica, hipotalâmica e quiasmática à esquerda. Foi realizada biópsia estereotáxica e a avaliação histológica do material definiu o diagnóstico de histoplamose. Iniciou-se tratamento com fluconazol, com melhora clínica importante após 6 meses do início do tratamento.
We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis h... more We describe the clinical and radiological findings of a pair of siblings with cerebellar vermis hypoplasia and compare them with the literature. Both of them present pregnancies and deliveries uneventful and both presented some grade of hypotonia, ataxia, ocular motor abnormalities and mild motor delay and slurred speech. These siblings meet many of the criteria described in non-progressive congenital ataxia in which can occur familial cases with cerebellar atrophy, including vermis hypoplasia. As differential diagnosis we compare them with related syndromes and with Joubert's syndrome which main radiological finding on MRI is vermis hypoplasia associated with "molar tooth" appearance. The correct answer for these cases will only be possible by molecular genetics.
OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasiz... more OBJECTIVE: To report a case of childhood cerebral X-linked adrenoleukodystrophy (X-ADL), emphasizing the magnetic resonance imaging (MRI) findings at initial evaluation and at the follow-up. CASE REPORT: Five year-old boy, who was asymptomatic, presented with diagnosis of X-ADL for MRI evaluation. The initial brain MRI showed a focal area of enhancement at the splenium of the corpus calosum. One year later, the follow-up MRI showed a progression of the corpus calosus lesion, as well as other lesions in the parietal and occipital lobes. CONCLUSION: The brain MRI follow-up of patients with X-ADL is important to show the progression of the lesions.
A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrat... more A 17-year-old boy presented with somnolence and mental confusion. Physical examination demonstrated motor disturbances. Laboratorial investigation showed elevated levels of alpha-fetoprotein in serum and cerebrospinal fluid. The CT scan revealed a heterogeneous mass at the pineal region. At the MRI, this lesion was hypointense on T1 and hyperintense on T2-weighted images, enhancing after contrast administration. The patient underwent a surgical biopsy, which defined the diagnosis of yolk sac tumor. We emphasize the correlation of neuroimaging and pathological findings of this rare pineal region tumor.
OBJETIVE: To describe the CT scan findings of 21 thrombocytopenic patients with central nervous s... more OBJETIVE: To describe the CT scan findings of 21 thrombocytopenic patients with central nervous system (CNS) hemorrhage. METHOD: Retrospective study of the computed tomography (CT) of 21 platelet-depleted patients with CNS hemorrhage. One patient presented two episodes of hemorrhagic episode with different intervals. The clinical data were obtained by the review of the medical records. Two radiologists analyzed the films and reached the decisions by consensus. The following findings were studied: type of bleeding, number of lesions, topography, laterality, size and associated findings. RESULTS: Intraparenchymal hemorrhage (IPH) was the most common findings, found in 20 cases, being six of them associated with subarachnoid and intraventricular hemorrhages. The size of the lesions varied between 1.8 and 10.5 cm. The parietal lobes were more commonly affected (n=11, 50%), followed by the temporal (n=7, 31.8%), frontal (n=7, 31.8%) and occipital (n=2, 9.09%) lobes. In 15 cases (68.2%) t...
Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30% of all ped... more Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30% of all pediatric brain tumors, and less than 1% of CNS adult neoplasms. We report the imaging findings of 8 adult patients with medulloblastoma. The mean age was 35 years, ranging from 20 to 65 years, and the male:female rate was 3:5. The tumors were predominantly lateral (63%), hyperdense on CT scans (83%), and on the MRI, hypointense on T1 (100%) and hyperintense on T2 (80%) weighted images. It was seen intratumoral necrosis and cysts in six cases and calcifications in three. Hydrocephalus was observed in 5 cases and brain stem invasion in four. The imaging findings of medulloblastomas in adults are different of those in child, and also nonspecific. Although these tumors are uncommon in adults, they must be considered in the differential diagnosis of cerebellar masses in the posterior fossa of this age group.
Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de l... more Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de lesões no cérebro e leptomeninges, com consequente aparecimento de sintomas, está relacionado com a resposta imune do hospedeiro, ao número e à fase de involução dos parasitas . Relatamos os achados anatomopatológicos durante a necrópsia em 27 casos de neurocisticercose, que corresponderam a 3,1% dos casos necropsiados no serviço. 77% dos pacientes eram masculinos, com idade variando entre 18 e 85 anos. Em 26% dos casos havia história de alcoolismo. A análise clinico-patológica mostrou que 50% dos casos eram da forma assintomática, 11% da forma epiléptica, 11% da forma intraventricular e 11% da forma combinada. 33% dos pacientes apresentaram crise epiléptica como fator agravante do quadro clínico. O cisticerco era único em 60% dos casos, a forma cellulosae estava presente em 82% e a racemosa em 7% dos casos, sendo os 11% restantes portadores da forma combinada. Em 30% dos pacientes a caus...
Tuberculosis is an infectious disease caused by Mycobacterium tuberculosis, which has the pulmona... more Tuberculosis is an infectious disease caused by Mycobacterium tuberculosis, which has the pulmonary form as the most common presentation. Dissemination of the disease is common in immunocompromised patients, but immunodeficiency related to pregnancy severe enough to cause dissemination of the Mycobacteria is exceedingly rare. When dissemination occurs, any organ may be affected and in central nervous system, the infection presents as meningitis and single brain parenchyma tuberculomas. We report the case of a 17 year-old woman at the 34th week of pregnancy with respiratory and high intracranial pressure symptoms. On the day before admission she had a sudden onset of paraparesis and urinary retention and ten hours after the delivery she presented with paraplegia . The chest X-ray and CT scan were compatible with miliary tuberculosis. The cranial CT scan revealed numerous rounded hypodense lesions located at cerebral and cerebellar hemispheres, which presented ring-like enhancement af...
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