RESUMO
Central nervous system involvement in liposarcoma is rare, the only symptom reported in the literature being local compression of the spinal cord. An exceptional case with peripheral nerve involvement due to local recurrence, in addition to spinal cord compression and cavernous sinus syndrome due to metastases is reported.
Assuntos
Seio Cavernoso/patologia , Lipossarcoma/patologia , Neoplasias do Sistema Nervoso Periférico/patologia , Compressão da Medula Espinal/etiologia , Adulto , Seio Cavernoso/diagnóstico por imagem , Feminino , Humanos , Lipossarcoma/diagnóstico por imagem , Lipossarcoma/secundário , Imageamento por Ressonância Magnética , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Compressão da Medula Espinal/diagnóstico por imagem , Síndrome , Tomografia Computadorizada por Raios XRESUMO
Five cases of intravascular lymphomatosis (IVL) are reported. Diffuse or focal cerebral signs suggestive of vascular disease occurred in four cases, but case 5 presented with symptoms similar to Creutzfeld-Jakob disease. Clinical course ranged from two to eight months and diagnosis was made in all cases by autopsy. Neoplastic lymphoid cells mainly lodged in lumina of small vessels in many organs, but infarction was confined to the CNS. Some extravascular tumor cells were regularly seen. All cases corresponded to high-grade Non-Hodgkin lymphomas of B-cell type and displayed high proliferation indices. Different from findings in primary cerebral and nodal lymphomas, neither p53 nor bcl-2 oncoproteins were detectable. Absence of EBV genome and EBV latent membrane protein from IVL was demonstrated for the first time.
Assuntos
Neoplasias Encefálicas/patologia , Encéfalo/patologia , Linfoma não Hodgkin/diagnóstico , Proteínas Oncogênicas/isolamento & purificação , Idoso , Anticorpos Monoclonais , Neoplasias Encefálicas/diagnóstico , Infarto Cerebral/fisiopatologia , Feminino , Herpesvirus Humano 4/isolamento & purificação , Humanos , Imuno-Histoquímica , Linfócitos , Linfoma não Hodgkin/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios XRESUMO
This report presents a case of infantile multiple system atrophy with probably autosomal recessive inheritance. The female patient developed generalized muscular hypotonia, myoclonias and tonic-clonic seizures at the age of 8 months, followed by gradual development of choreoathetotic hyperkinesia and increasing psychomotor retardation. Metabolic disease was ruled out and the child died of aspiration pneumonia at the age of 5 years. General autopsy was unremarkable, but neuropathological examination showed degeneration of cerebellum, inferior olives, medial thalamus, Clarke's nucleus, anterior horn cells, corticospinal, spinocerebellar tracts, and posterior columns. Immunohistochemically many neurons contained intranuclear and intracytoplasmic ubiquitin-positive inclusions, which did not contain neurofilament or tau epitopes and ultra-structurally consisted of granulofilamentous material. We tentatively classify this case as a form of infantile multiple system atrophy linked to neuronal intranuclear hyaline inclusion disease.
