Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor.

Malignancies are a common feature of Maffucci syndrome, with chondrosarcomas being the most common tumor type. The authors present the first case of Maffucci syndrome associated with a pituitary adenoma and a probable brainstem glioma and review the literature concerning intracranial tumors related to this disease. They report the case of a 35-year-old woman with Marfucci syndrome (diagnosed when she was 22 years old) who presented with complaints of decreased visual acuity and visual field defect. Neuroimaging revealed a pituitary macroadenoma and a suspected brainstem tumor. The macroadenoma was partially removed. There were no postoperative complications and the patient experienced rapid improvement in visual acuity. On follow-up examination 2 years later, the lesion in the pons showed the same dimensions. No sarcomatous changes of enchondromas or hemangiomas occurred. To the authors' knowledge, including the present case, only 7 cases of Maffucci syndrome associated with glioma and 7 cases associated with pituitary adenoma have been reported in the literature. This report emphasizes that patients with this disease are at a higher risk for primary intracranial tumors and reinforces the concept of the multiplicity of tumors that may arise in this syndrome. It also underscores the importance of early diagnosis, regular clinical surveillance, and follow-up studies of these patients.

Spinal stenosis.

Narrowing of the spinal canal or foramina is a common finding in spine imaging of the elderly. Only when symptoms of neurogenic claudication and/or cervical myelopathy are present is a spinal stenosis diagnosis made, either of the lumbar spine, cervical spine or both (only very rarely is the thoracic spine involved). Epidemiological data suggest an incidence of 1 case per 100 000 for cervical spine stenosis and 5 cases per 100 000 for lumbar spine stenosis. Cervical myelopathy in patients over 50 years of age is most commonly due to cervical spine stenosis. Symptomatic spinal narrowing can be congenital, or, more frequently, acquired. The latter may be the result of systemic illneses, namely endocrinopathies (such as Cushing disease or acromegaly), calcium metabolism disorders (including hyporarthyroidism and Paget disease), inflammatory diseases (such as rheumathoid arthritis) and infectious diseases. Physical examination is more often abnormal in cervical spondylotic myeloptahy whereas in lumbar spinal stenosis it is typically normal. Therefore spinal stenosis diagnosis relies on the clinical picture corresponding to conspicuous causative changes identified by imaging techniques, most importantly CT and MRI. Other ancillary diagnostic tests are more likely to be yielding for establishing a differential diagnosis, namely vascular claudication. Most patients have a progressive presentation and are offered non operative management as first treatment strategy. Surgery is indicated for progressive intolerable symptoms or, more rarely, for the neurologically catastrophic initial presentations. Surgical strategy consists mainly of decompression (depending on the anatomical level and type of narrowing: laminectomy, foraminotomy, discectomy, corporectomy) with additional instrumentation should spinal stability and sagittal balance be at risk. For cervical spine stenosis the main objective of surgery is to halt disease progression. There is class 1b evidence that surgery is of benefit for lumbar stenosis at least in the short term.

Myeloradiculopathy associated to Schistosoma mansoni.

Neuroschistosomiasis caused by Schistosoma mansoni (Sm) is a rare and severe condition potentially leading to permanent neurological deficit. An 18-year-old Brazilian female was admitted due to a severe conus medullaris and cauda equina syndrome. MRI of thoracic/lumbar spine showed an expanded conus medullaris with patchy gadolinium-enhancement, needle electromyography revealed acute bilateral radiculopathy (L5-S1-S2), cerebrospinal fluid (CSF) showed lymphocytosis and increased proteins and lesion' surgical biopsy documented a lymphocyte infiltrate. Immunodiagnosis with cercariae hullen reaction using Sm cercariae in CSF and serum and immunoelectrodiffusion for circulating antigens detection using anti-Sm antibodies were positive. No schistosoma parasites were found. The patient was treated with praziquantel and corticotherapy for 6 months. At 1 month, partial clinical improvement was noticed, and MRI showed a normal size conus medullaris. At 6 months, there was complete clinical recovery. This case shows that a severe neurological deficit by Sm may have a clinical full recovery after treatment.

Pediatric brain tumors: genetics and clinical outcome.

OBJECT: In this paper the authors' goal was to investigate the genetic characteristics of primary brain tumors in children and determine their influence on clinical outcome. METHODS: The authors performed high-resolution comparative genomic hybridization studies in 14 low-grade and 12 high-grade brain neoplasms in 26 children who underwent surgery between 2005 and 2007. RESULTS: Complex comparative genomic hybridization alterations were observed in 2 (14.3%) of the 14 lowgrade lesions and in 8 (66.6%) of the 12 high-grade lesions. High-level amplifications of DNA were detected in 3 cases, namely in a desmoplastic medulloblastoma where a c-Myc amplification was found. Gains of 1q were detected in 2 low-grade and 6 high-grade lesions that were classified as ependymomas, astrocytomas, oligodendrogliomas, oligoastrocytomas, and gangliogliomas. When the authors correlated genetics with outcome, they noted that among the low-grade neoplasms only the 2 patients who presented with complex comparative genomic hybridization alterations had to undergo reoperation because of recurrent disease. The patient with c-Myc amplification died of progressive disease. Gains of 1q were only observed in tumor cases with progressive disease. CONCLUSIONS: Complex genetic alterations are indicative of a less favorable outcome in low-grade tumors. In these cases, closer follow-up should be pursued. The authors corroborate that c-Myc amplification is a marker of poor prognosis in medulloblastomas. In this study, they were able to verify that a 1q gain correlates with a poor clinical outcome, independent of tumor grade and histological type. The authors propose that it may be considered a common marker of poor prognosis in these neoplasms.

Genetic alterations in a papillary glioneuronal tumor.

Papillary glioneuronal tumors (PGNTs) are rare lesions of the central nervous system, and no information exists on the genetic alterations in these neoplasms. The authors report on such a case in a child. Genetic studies revealed that the tumor was characterized by gains and structural alterations involving only chromosome 7 with breakpoints at 7p22. By using comparative genomic hybridization, the authors observed a high-level amplification region at 7p14~q12. Fluorescence in situ hybridization with a probe for EGFR revealed that this gene was not amplified. Similar to other patients with PGNTs, the patient in the present case fared well. From a genetic point of view the data in the present case are in accordance with previous findings of EGFR amplifications as uncommon in low-grade gliomas and gangliogliomas. Recurrent rearrangements of chromosome 7 have been noted in other mixed glioneuronal tumors. The data in this case suggest that genes located at chromosome 7 can also be involved in the pathogenesis of PGNT. In clinical terms it will be especially important to corroborate, through the analysis of further cases, the involvement of the chromosome 7p22 locus, a region where glial and neuronal linked genes (RAC1 and NXPH1) are known to be located.

Simpósios sobre Saúde 200 anos Brasil-Portugal - João Lobo Antunes.

Fez uma explanação da biografia e bibliografia de 'Egas Moniz', médico português, relata suas viagens ao Rio e São Paulo e sua ligação com o Brasil. Apresenta fotos históricas do médico e suas obras. Os arquivos estão disponíveis para leitura e/ou download por meio do ícone ao lado.