Suprasellar arachnoid cyst presenting with bobble-head doll movements: a report of 3 cases.
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We report a series of three patients with suprasellar arachnoid cysts who presented with a rare 'bobble-head doll' syndrome. The abnormal head movements improved after surgical evacuation of the cysts in all the three cases. Various pathophysiological mechanisms involved in the bobble-head doll syndrome are discussed. The literature on suprasellar arachnoid cysts is briefly reviewed. (+info)
Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features. (+info)
We report the case of a 52-year-old woman who developed vertical diplopia of 1-days duration. Neuro-ophthalmological testing revealed left trochlear nerve palsy, and sellar MRI revealed a 1.5 cm-sized pituitary mass lesion, a Rathke's cleft cyst. The diplopia disappeared spontaneously after 6 days. (+info)
Appearance of an interhemispheric cyst associated with agenesis of the corpus callosum.
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We describe a fetus with agenesis of the corpus callosum (ACC) and Dandy-Walker malformation that developed a frontal paramidline cyst late in gestation. The interval appearance of the cyst occurred in concert with increasing size of the lateral ventricles, which supports the hypothesis that cysts associated with ACC can develop with increasing intraventricular pressure. Recognition of the potential for a changing appearance of neurologic abnormalities is important to providing appropriate patient counseling. (+info)
Karyotyping of fetuses with isolated choroid plexus cysts is not justified in an unselected population.
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OBJECTIVE: The main objective of this study was to determine whether isolated choroid plexus cysts are a risk factor for trisomy 18. METHODS: A total of 12,672 unselected patients were examined, and the outcome of fetuses with choroid plexus cysts was assessed. The cases with choroid plexus cysts were selected from the 12,672 patients and further divided into cases with minor markers of aneuploidy and cases with associated structural anomalies. Previous similar work was reviewed, analyzed, and, where possible, compared with the results of this study. RESULTS: The findings revealed 366 fetuses with choroid plexus cysts (2.9%). Thirty-three percent of fetuses with trisomy 18 had choroid plexus cysts, and, in every case, structural anomalies were also present. From the 12 cases with choroid plexus cysts in addition to major associated anomalies, amniocentesis revealed 2 cases of trisomy 18. Forty-three patients who had choroid plexus cysts and minor anomalies within our population had normal outcomes. CONCLUSIONS: These results indicate that the risk of amniocentesis is not acceptable if isolated choroid plexus cysts are isolated findings. More data are needed to establish whether choroid plexus cysts and other soft signs independently increase the risk of aneuploidy. (+info)
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.
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Mutations in the MLC1 gene are responsible for one form of the neurological disorder megalencephalic leukoencephalopathy with subcortical cysts (MLC). The disease is a type of vacuolating myelinopathy. The biochemical properties and the function of the MLC1 protein are unknown. To characterize MLC1, we generated polyclonal antibodies. The MLC1 protein was detected in the brain, assembled into higher molecular complexes, as assessed by assembly-dependent trafficking assays. In situ hybridization and immunohistochemistry were used to determine MLC1 localization within the adult mouse brain. MLC1 was expressed in neurons, detected preferentially in particular axonal tracts. This expression pattern correlates with the major phenotype observed in the disease. In addition, it was expressed in some astrocytes, concentrating in Bergmann glia, the astrocyte end-feet membranes adjacent to blood vessels and in astrocyte-astrocyte membrane contact regions. Other neuronal barriers, such as the ependyma and the pia mater, were also positive for MLC1 expression. MLC1 was detected in vivo and in heterologous systems at the plasma membrane. MLC mutations impaired folding, and the defect was corrected in vitro by addition of curcumin, a Ca(2+)-ATPase inhibitor. In summary, this study provides an explanation as to why mutations in MLC1 provoke the disease and points to a possible therapy for some patients. (+info)
Neuroendoscopic transventricular surgery for suprasellar cystic mass lesions such as cystic craniopharyngioma and Rathke cleft cyst.
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Cystic mass lesions in the suprasellar cistern are often associated with neurological deficits, cognitive disorders, and endocrinological impairments. Many surgical approaches are available to treat these mass lesions, but are technically difficult and cannot remove the lesion completely without risking damage to neurological and endocrinological functions due to the proximity to the surrounding structures. Neuroendoscopic transventricular surgery was performed using a ventricular fiberscope for three patients with craniopharyngiomas and two patients with Rathke cleft cysts, with gamma knife radiosurgery for craniopharyngiomas. The endoscopic transventricular approach is safe and minimally invasive for congenital benign suprasellar cystic lesions, especially arachnoid cysts. (+info)
Large supratentorial ectopic ependymoma with massive calcification and cyst formation--case report.
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A 6-year-old boy presented with a large supratentorial ependymoma with massive calcification and central cyst formation manifesting as generalized convulsion and right hemiparesis. Computed tomography and magnetic resonance imaging showed a large, poorly enhanced, left frontal mass with massive calcification and a central cyst. Angiography revealed no extracranial blood supply to the tumor, which was supplied by branches of the left middle cerebral artery. The patient underwent total resection of the tumor, which was located in the parenchyma with no dural attachment. The tumor was clearly demarcated and dissected subpially from the surrounding brain parenchyma. The surgical findings suggested no relationship with the lateral ventricular system. Histological examination of the tumor demonstrated perivascular pseudorosette formation and mitosis with massive calcification, and immunocytochemical reactivity for glial fibrillary acidic protein and epithelial membrane antigen, but not synaptophysin. These findings were compatible with ependymoma, World Health Organization grade 2. Postoperative magnetic resonance imaging clearly showed that the tumor was located in the intradural, intraaxial space with no relationship to the ventricles. (+info)