Familial mitochondrial myopathies.
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Biomedical subjects
Publications and source records attributed to J M Brucher.
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Choroid plexus papillomas are usually easily distinguishable from papillary ependymomas by their delicate fibrovascular stroma and their cytologic similarity to normal choroid plexus epithelium. Exceptionally, however, examples are met which give rise to diagnostic difficulty. We therefore tested 22 choroid plexus papillomas for the presence of glial fibrillary acidic (GFA) protein using the immunoperoxidase technique. Positivity for the protein was found focally in epithelial tumor cells in nine of the 22 papillomas. All were in adults ranging from 19-66 years of age. Eight of the nine tumors originated in the 4th ventricle or one of its lateral recesses. In six papillomas showing GFA protein in the cells, intracellular fibrils were found in a small number of elongated epithelial cells with the PTAH and/or Masson trichrome stains; in all these six cases, the GFA protein-positive cells were considerably more numerous than cells containing fibrils. Normal choroid plexus epithelium lacks GFA protein, but pathologically altered ependymal cells are often GFA protein-positive. Our findings therefore suggest that focal divergent glial (presumably ependymal) differentiation may be expressed in neoplastic choroid plexus epithelium, consistent with the origin of this epithelium from primitive neuroepithelial (ventricular) cells.
Two brothers developed a neurological condition characterized by homochrony and homotypy: the first symptoms in both were generalized epileptic seizures, occurring at about the same age (30 years in the elder, 32 years in the younger), followed by a cerebellar syndrome with myoclonic jerks and some extrapyramidal symptoms. The elder of the two boys died at the age of 33 years. Histology showed extensive storage of ceroid-lipofuscin in the central nervous system (curvilinear bodies), in hepatocytes, in heart muscle and in the retina. In the younger boy, still living, a muscle biopsy (peroneal muscle) revealed accumulation of membrane-bound osmiophilic inclusions with curvilinear profiles. Retinal storage in Kufs' disease has never been documented. Muscle biopsy as a diagnostic tool for Kufs' disease has not been reported.
A case of cerebellar medullomyoblastoma in a young boy was investigated by electron microscopy. The neuroectodermal component shows the characteristics of a desmoplastic medulloblastoma. The mesodermal component consists of more or less differentiated cross-striated muscle cells. Undifferentiated muscle cells are very similar to proliferated endothelial cells of blood vessels within the muscular component, so that an origin of this component from pluripotential endothelial cells of the vessel wall is suggested. This tumor is considered a malignant teratoid because of the derivation from two blastodermic layers and because of the midline localization in children suggesting a malformative origin.
The treatment of tumours of the pineal region is the subject of keen controversy between advocates of surgical excision and those of radiotherapy with ventricular shunting. The proponents of these extremes often seem to ignore the wide pathological variety of tumours of this site. Attempted excision of a germinoma invading the walls of the 3rd ventricle is as futile and dangerous as irradiation of a teratoma. Stereotaxic biopsy provides precise pathological diagnosis and thus allows more specific management; the procedure is safe and no serious complications were experienced in 25 cases.
The authors emphasize the advantages of stereotaxic methodology in the management of 200 brain tumors. Nowadays computerized tomography is the first stage of radiologic diagnosis. Both CT scan and stereotaxic examination have been carried out in more than 35% of these tumors. Rather than a comparison of the two examinations, the authors' purpose is to attempt to demonstrate their complementarity in the assessment of location, volume, and nature of the lesion and eventually in the choice of a therapeutic attitude. Analysis of topographic data and staged biopsies, gathered from the 'stereotaxic space,' provides the neurosurgeon with accurate information for planned surgical excision or interstitial irradiation.
The respective role of surgical ablation versus palliative methods (i.e. shunting followed by irradiation) in the treatment of tumors of pineal region is still questionnable and must take into account the variability of their pathology. Thus, knowledge of tumoral type in each case is the first step to therapeutic discussion. The stereotactic methods allow a faithful biopsy, easy to interpret and without major risks.
A non operated aneurysm of the anterior communicating artery enlarged considerably over a seven years period; it finally thrombosed and behaved like a suprasellar tumor. The clinical course, the angiographic evolution and the anatomical examination allowed, in this case, to account for the increase in volume by progressive stretching of the wall, and not by incorporation of a false aneurysmal sack resulting from an encapsulated haematoma. Histologically, the wall of this giant aneurysm showed various changes : on the inner aspect, progressive thickening occurs, due to fibrous organization of mural thrombosis; in the depth, far from the nutrient sources, necrotic atheromatous like foci occur, which isolate an inner leaflet, prone to become nectrotic at a later stage. Distension of such a weakened wall may lead to several consequences; a progressive increase in volume of the aneurysm, partial ruptures with haemodissection starting from the aneurysmal lumen, or even complete rupture of the wall and subarachnoid haemorrhage. On the other hand, circulatory stasis, due to the important increase in volume, may facilitate progressive thrombosis of the aneurysm. The living character of the wall is emphasized by the coexistance of these unfavourable (degeneration, ruptures) and favourable (thrombosis, fibrous organization) features, which continuously influence the spontaneous evolution of the aneurysm.
Experiments conducted on rabbits confirmed that chlorpromazine potentiates the weak epileptogenic action of Amipaque (metrizamide). Chlorpromazine withdrawal for a period of 48 h suppresses this potentiating effect in the rabbit. Neuroleptic drugs should therefore be avoided in patients examined with Amipaque. In patients under chronic treatment, neuroleptics ought to be discontinued at least 48 h before examination with Amipaque. With the doses and methods used in the present study, diazepam was not as effective as phenobarbital in preventing epilepsy produced by Amipaque. When premidication is needed or when convulsions occur after Amipaque examinations, combined diazepam and phenobarbital therapy ought to be instituted in order to achieve the best control of epileptic reactions.
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Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.
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