Marco Trizio

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A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle(More)
Eight patients with Friedreich's ataxia and eight others with syndrome of spino-cerebellar degeneration received oral lecithin (21 g daily) for a six-month period. No relevant clinical change was note either during or soon after treatment. Statistical analysis was also irrelevant in the total number of patients. Similar results emerged when grouping the(More)
Diffuse encephalitis occurred in a 2 year old girl, with activation of a chorioretinitis, which on clinical and serological grounds was taken to be caused by toxoplasma infection. The small patient presented clinically not only typical ocular lesions (bilateral chorioretinitis) but also neurological complications with status comatosus with some archaic(More)
Twenty-seven patients with autosomal recessive ataxia were studied. According to diagnostic criteria proposed by Quebec Cooperative Study, fifteen cases were diagnosed as Friedreich's ataxia. The remaining twelve cases showed clinical features of the "Early onset cerebellar ataxia with retained reflexes". The clinical differences between the two diseases(More)
A case of Sotos' syndrome or cerebral gigantism is described. The main clinical features of this syndrome are macrocrania, accelerated skeleton maturation and somatic development, cranio-facial dysmorfism, psychomotor retardation in 80% of the cases. Less frequently other skeleton abnormalities associated with neurological and/or endocrinological disorders(More)