Al Salviati

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Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy. Here we present an exceptional case with very late onset at 42 years of age and no clinical or neurophysiological sign of peripheral neuropathy. Molecular analysis revealed compound(More)
Histochemical, electron microscopy and biochemical studies were performed on muscle biopsy specimens from 11 AIDS patients treated with zidovudine. A peculiar association of structural abnormalities and mitochondrial dysfunction was found. Focal cytochrome c oxidase (COX) deficiency was evident in muscle sections from 9 patients, 8 of whom had received(More)
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(More)
BAEPs were recorded in a 70-year-old man who had developed symptoms indicative of Wallenberg syndrome. He died, of extracerebral causes, shortly after hospitalization and an autopsy study was done on the brainstem lesions. Right ear stimulation disclosed BAEP abnormalities, but gave no indication of the level of the ischemic disorder. Histopathological(More)
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