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1.
Neurol Sci ; 33(3): 609-13, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21927882

RESUMO

Spinal subarachnoid spread is not uncommon in brain oligodendrogliomas; on the other hand, symptomatic involvement of the spinal cord and cauda is very rare, with only 16 reported cases. We report the case of a 41-year-old man who underwent resection of a low-grade frontal oligodendroglioma 4 years previously. He was again observed because of bilateral sciatic pain followed by left leg paresis. A spine MRI showed an intramedullary T12-L1 tumor with root enhancement. At operation, an intramedullary anaplastic oligodendroglioma with left exophytic component was found and partially resected. Two weeks later, a large left frontoparietal anaplastic oligodendroglioma was diagnosed and completely resected. The patient was neurologically stable for 8 months and died 1 year after the spinal surgery because of diffuse brain and spinal leptomeningeal spread. The review of the reported cases shows that spinal symptomatic metastases can occur in both low-grade and anaplastic oligodendrogliomas, even many years after surgery of the primary tumor; however, they exceptionally occur as first clinical manifestation or as anaplastic progression. The spinal seeding represents a negative event leading to a short survival.


Assuntos
Neoplasias Encefálicas/patologia , Córtex Cerebral/patologia , Oligodendroglioma/patologia , Neoplasias da Medula Espinal/secundário , Adulto , Neoplasias Encefálicas/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Oligodendroglioma/cirurgia , Neoplasias da Medula Espinal/cirurgia
2.
Eat Weight Disord ; 16(1): e69-71, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21051929

RESUMO

We report the case of a 12.4-yr-old boy who presented Klinefelter syndrome (KS) mosaicism (46,XY/47,XXY), associated with mental retardation and anorexia nervosa (AN). KS was undiagnosed before hospitalization in a psychiatric unit. The patient was referred to a child psychiatric unit for restrictive eating. The medical history showed long standing feeding difficulties and failure to thrive. The patient was pre-pubertal and other clinical characteristics were: microcephaly, short stature and dysmorphic traits. Cytogenetic analysis revealed a mosaicism, 46,XY[11] and 47,XXY[19] karyotype. The psychiatric assessment demonstrated the presence of AN and low mood. No specific pathophysiological links between the alterations of KS and the development of AN should be hypothesized on the basis of this case report. In pre-pubertal boys with mental disorders, the possibility of KS should be considered, independently of the presence of eating disorders. Nevertheless, the case shows that KS can be first detected during an assessment for eating disorders. Few cases of the association of KS with AN have been previously reported in literature. This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation. This case report illustrates the need, for clinicians who work with eating disorders, to investigate the possible association between AN and KS, a rare but intriguing one.


Assuntos
Anorexia Nervosa/complicações , Síndrome de Klinefelter/complicações , Mosaicismo , Anorexia Nervosa/diagnóstico , Anorexia Nervosa/genética , Criança , Humanos , Cariotipagem , Síndrome de Klinefelter/diagnóstico , Masculino , Testes Neuropsicológicos , Escalas de Graduação Psiquiátrica
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