Abstract
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.
Sommario
Sono stati studiati tre membri di una famiglia con angiomi cavernosi intracerebrali multipli. Viene ipotizzata un'ereditarietà autosomica dominante. Il probando soffriva di cefalea e all'esame obiettivo era evidente un'emiparesi destra. Il secondo caso era esordito con un ictus cerebrale emorragico mentre il terzo caso si presentava all'osservazione neurologica asintomatico. La risonanza magnetica nucleare (RMN) eseguita in due dei tre casi, ha mostrato lesioni che, per la molteplicità e l'estensione, non avevano le caratteristiche radiologiche degli angiomi cavernosi. La biopsia cerebrale nel probando ha permesso la definizione diagnostica. L'inquadramento nosologico delle forme familiari, anche se facilitato negli ultimi anni dall'introduzione della RMN, può essere difficoltoso quando le lesioni radiologiche sono atipiche. In questi casi la biopsia cerebrale costituisce non solo un valido aiuto per la diagnosi, ma si rende indispensabile per fornire un'adeguata informazione genetica.
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This study has been presented at the 30th Italian National Neuropathology Congress. St. Vincent (Val d'Aosta), 20–22 June 1994.
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Passarin, M.G., Salviati, A., Gambina, G. et al. Familial cavernous hemangioma with atypical neuroimaging. Ital J Neuro Sci 17, 295–300 (1996). https://doi.org/10.1007/BF01997790
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DOI: https://doi.org/10.1007/BF01997790