Biomedical subjects
Publications and source records attributed to C Battisti.
Here we report a family in which the Gorlin's syndrome or oculo-dento-digital dysplasia is transmitted with autosomal dominant inheritance of variant expressivity. Three cases, extensively studied, show also slight oligophrenia, symptom rarely described in this syndrome.
We report the clinical, neurophysiological (comprehending electromyography, nerve conduction velocities, and multimodal evoked potentials), histological study of the nerve and muscle and the effect of vitamin E supplement in a 32-year-old case with chronic vitamin E deficiency subsequent to acquired intestinal malabsorption. An early diagnosis for an early treatment is essential in preventing severe neurological deterioration.
We report the results on the serum vitamin E amount in Friedreich's and other inherited ataxias. Subnormal serum vitamin E values have been found confirming a possible involvement of this vitamin in the pathogenesis of the ataxic syndromes.
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