1/2. retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic implications.retinoblastoma is the most common intraocular malignancy of childhood. It may rarely present with white spots on the iris and pseudohypopyon. We report a case of an 11-month old child with polydactyly with this presentation of retinoblastoma. There was no positive family history of the disease. Investigations included anterior segment examination under anaesthesia, fundoscopy with scleral indentation, A- and B-scan ultrasound and MRI examination of the head. This was a Reese Ellsworth group 5 retinoblastoma with an indication for enucleation. pathology reports of the enucleated globe showed choroidal and ciliary body invasion. Therefore, subsequent chemotherapy treatment was undertaken. The retinoblastoma gene is located in the long arm of chromosome 13. Almost all familial and bilateral cases carry the abnormal gene. In unilateral isolated retinoblastomas--as in our case--most patients do not have a germinal mutation, however, only dna analysis can safely exclude that. We also discuss possible factors having a link to both polydactyly and retinoblastoma.- - - - - - - - - - ranking = 1keywords = anaesthesia (Clic here for more details about this article) |
2/2. A case of gliosarcoma appearing as ischaemic stroke.OBJECTIVES: Ischaemic stroke attributable to malignant brain tumour is a rarely reported phenomenon and even various imaging techniques including angiography do not necessarily lead to an accurate diagnosis. CASE DESCRIPTION: A 46-year-old, previously healthy man developed apoplectic symptoms with slight right sided hemiparesis and global aphasia. The computed tomography (CT) scan showed lesions of the left temporal lobe and the paraventricular white matter suggestive of left middle cerebral artery (MCA) infarction. Carotid angiography demonstrated compression of the M1 segment of the MCA and occlusion of temporal MCA. The patient initially refused magnetic resonance imaging (MRI) because of claustrophobia. Because of fluctuating symptoms and successive worsening of the condition over weeks an MRI scan was conducted under general anaesthesia. Beneath temporal, opercular, and subcortical infarctions it revealed a left temporal tumour. A tumour biopsy disclosed a gliosarcoma (WHO grade IV). Microscopical examination of the surgical specimen demonstrated invasion of tumour cells into the wall of a greater pre-existing blood vessel. CONCLUSIONS: Malignant brain tumours may cause ischaemic infarction. This is a rare but important differential diagnosis for the origin of strokes. The authors describe the first case with infiltration of intracranial blood vessels by tumour cells of a gliosarcoma.- - - - - - - - - - ranking = 1keywords = anaesthesia (Clic here for more details about this article) |