[Angiographic findings in agenesis of the corpus callosum. (Review of the literature and personal contribution)].
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Biomedical subjects
Publications and source records attributed to T Perniola.
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A 6-year old girl developed acquired aphasia with epilepsy and a paroxysmal EEG (Landau-Kleffner syndrome). Isoelectric CSF focusing showed oligoclonal IgG bands. Small lesions were visualized in periventricular left frontal white matter and right parietal lobe centrum semiovale with magnetic resonance imaging (MRI). After a week of ACTH therapy, the EEG paroxysmal activity disappeared; during the next few months, the language disorder improved. Further MRI examination showed a decrease in size and signal of the left frontal lesions, with localized white matter atrophy, dilatation of the subarachnoidal spaces, and disappearance of the right parietal lesion. The clinical and neuroradiologic features and the laboratory data suggest an acute disseminated encephalomyelitis.
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The authors report preliminary data on cognitive development of 57 children, perspectively followed, who were exposed to antiepileptic drugs in utero for maternal epilepsy. Cognitive impairments are associated with other risk factors in 5 cases, so that a direct AEDs responsibility is not easy to prove.
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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 are reported. In our patient the typical features of the syndrome are accompanied by several neurological signs (mental retardtion, strabism, hypothonia, motor impairment, seizures, CT scan abnormalities) and ophtalmological changes as optic disk pallor. The above mentioned range of symptoms should be considered as a direct consequence of the primary defect which characterizes the Sotos' syndrome. In our case the cerebral nervous system seems to be more specifically involved. Besides, important behavioural difficulties have emerged with regard to the double relation mother-daughter and in the familiar environment as well. For this reason we emphasize the necessity of evaluating and clearing up all problems which often arise in connection with various pathological conditions in childhood. This should be done in order to grant the families an appropriate support.
We studied somatosensory evoked potentials after median nerve stimulation in a sporadic case of dopa responsive dystonia and in two brothers with different combinations of dystonia and parkinsonism. The latencies of all potentials were normal. The amplitude of the P20-N30 frontal complex showed a significant reduction in all cases. Our results suggest a common neurophysiopathological pattern underlying these two conditions.