Familial cavernous hemangioma with atypical neuroimaging
| Autor: | G. Gambina, L. Deotto, P. Bovi, G. Ferrari, Alessandro Salviati, F. Tezzon, Massimo Gerosa, Antonio Nicolato, Carlo Mazza, T. Zanoni, P. Iuzzolino, Giuliano Tomelleri, M. G. Passarin, Claudio Ghimenton |
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| Jazyk: | angličtina |
| Rok vydání: | 1996 |
| Předmět: |
Proband
medicine.medical_specialty Pathology Stereotactic biopsy Neurology Physical examination Neurological examination Dermatology Angioma medicine Humans Neuroradiology Cerebral Hemorrhage medicine.diagnostic_test business.industry Brain Neoplasms General Neuroscience Brain General Medicine Middle Aged medicine.disease Magnetic Resonance Imaging Psychiatry and Mental health Hemangioma Cavernous Female Neurology (clinical) Radiology Headaches medicine.symptom business Tomography X-Ray Computed |
| Popis: | Three members of the same family were studied, all of whom had multiple intracerebral cavernous angiomas for which a dominant autosomal inheritance was hypothesised. The proband suffered from headaches, and physical examination revealed evident right hemiparesis. The second case started with a hemorrhagic cerebral stroke and the third was asymptomatic on neurological examination. Nuclear magnetic resonance (NMR), performed in two of the three cases, showed lesions whose number and extent were not radiologically characteristic of cavernous angioma. A cerebral biopsy of the proband enabled the diagnosis to be made. Despite the recent introduction of NMR, the nosological classification of familial forms can be difficult when the radiological lesions are atypical. In such cases, cerebral biopsy is not only a valid diagnostic aid, but is also indispensable for obtaining adequate genetic information. |
| Databáze: | OpenAIRE |
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