Metastatic meningiomas: an unusual clinical and pathological diagnosis with highly variable outcome.

Metastatic meningioma is a rare situation. We conducted a retrospective study from our databases and identified cases of metastatic meningioma. We report three presentations of patients with medical history of surgical removal of meningioma presenting several years later a liver tumor with bone metastasis or multiple lung tumors. These observations highlight the difficulty of the clinical and pathological diagnosis and the absence of consideration of metastatic state for histologically "benign" but clinically aggressive meningiomas in the current WHO 2007 classification of meningiomas. We also reviewed published cases of metastatic meningiomas since they are clearly distinguished from haemangiopericytoma.

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome in neonates. A consensus for the diagnosis of PDE is based on refractive seizures and responsiveness to pyridoxine, however, a growing body of evidence suggests that additional elements should be considered which include biochemical data, genetic screening, and EEG monitoring. We present a case study of a neonate with PDE, who presented with misleading clinical presentation and a novel mutation in the antiquitin (ALDH7A1) gene (A294V), and highlight important aspects in order to consider the definition of diagnosis and management of PDE in the light of more recent data.

P-glycoprotein (ABCB1) and breast cancer resistance protein (ABCG2) localize in the microvessels forming the blood-tumor barrier in ependymomas.

Ependymomas are neuroepithelial tumors that arise from the ependymal layer bordering the cerebral ventricles and spinal canal. Intracranial ependymoma represents a major encephalic tumor in children, while spinal ependymoma develops more frequently in adults. To understand the pharmacoresistance that characterizes this tumoral entity, we analyzed the level of expression and localization of three major efflux transport proteins with a multidrug resistance function, P-glycoprotein, multidrug resistance-related protein 1 (MRP1) and breast cancer resistance protein (BCRP), in a series of 25 ependymomas from both children and adults. Real-time-PCR analysis showed that all three genes were expressed in all tumors, with no apparent correlation between the level of expression and either age or tumor grade. The MRP1 transcript was expressed at a significantly higher level in spinal tumors than in intracranial tumors. The expression of the proteins corresponding to these genes was confirmed by Western blot analysis. In an immunohistochemical study, P-glycoprotein and BCRP were shown to be associated with the tumoral vessels, where they presented a luminal localization, a prerequisite for their efflux drug activity into the blood. These data indicate that a biochemical, transporter-dependent blood-tumor barrier may exist in ependymomas, which may reduce the tumoral bioavailability of lipophilic and amphiphilic anticancer drugs.

The parallel use of endoscopic fenestration and a cystoperitoneal shunt with programmable valve to treat arachnoid cysts: experience and hypothesis.

OBJECT: The authors share their experience of the treatment of arachnoid cysts with endoscopic fenestration and cystoperitoneal shunt placement during the same operation. The importance of this strategy is related to the fact that the shunt can induce the collapse of the cyst and that the endoscopic fenestration could make it possible to remove the shunt, avoiding the phenomenon of shunt dependence. METHODS: Between 1996 and 2005, 35 patients with an arachnoid cyst were treated using endoscopic fenestration and placement of a programmable shunt. The patients' ages (70% boys and 30% girls) ranged from 2 months to 16 years. These patients were reviewed with MR imaging and clinical examination. The cyst volumes and clinical examinations were evaluated. RESULTS: No serious complications were reported; the cyst disappeared in 60% of the cases, and in 54% of the cases it was possible to remove the shunt without shunt dependence. CONCLUSIONS: In the authors' view, this strategy seems easy, does not take longer than a simple shunt surgery or an endoscopic cystostomy alone, and can be useful for treatment of arachnoid cysts in all locations.