Visual ictal phenomena in a case of Lafora disease proven by skin biopsy.
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Biomedical subjects
Publications and source records attributed to U Aguglia.
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Three personal observations of "eating seizures' are described and similar cases in the literature considered. The authors conclude that eating seizures represent an unusual pathological event with complex physiopathological mechanisms, and prognosis may change in relation to the different clinical contexts. The role of intermittent prophylactic treatment with clobazam is discussed.
Desipramine (10 mg/kg, i.p.), a specific blocker of noradrenaline uptake, significantly antagonized the decrease of brain noradrenaline induced by an intraventricular injection of 6-hydroxydopamine (200 micrograms in 20 microliter) in rats. The depletion of brain dopamine, in 6-hydroxydopamine plus pargyline-treated rats was counteracted by nomifensine (10 mg/kg, i.p.), a drug which has been reported to markedly inhibit dopamine uptake both in vivo and in vitro. Carbamazepine (10 mg/kg, i.p.), phenytoin (200 mg/kg, orally) and phenobarbital (20 mg/kg, orally) were unable to significantly affect either the decrease of noradrenaline or the depletion of dopamine induced by 6-hydroxydopamine. These findings seem to suggest that these anticonvulsant drugs do not inhibit brain catecholamine uptake in vivo in male rats.
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Vertical and horizontal saccadic (SEMv, SEMh) and smooth pursuit eye movements (SPEM) were recorded in 66 normal subjects of different ages using a computerized system. No difference was found in SEMh recordings for the right versus the left eye or for gaze direction. In contrast, SEMv recordings of upgaze vs. downgaze showed a significant difference in performance index (peak velocity) and delay. SEMh and SEMv performance index and delay were significantly slowed in elderly subjects, although accuracy was not affected. SPEM analysis also revealed a decrease in velocity in elderly people indicating diminished tracking ability as a result of the aging process. These data suggest that senescence may influence some SEM and SPEM parameters. We thus emphasize the usefulness of having reliable normative data corrected for age.
We first report 3 patients who experienced absence epilepsy (mean age at onset: 6.3 years; range: 4-9) 1-4 years after recovering from an electroclinical picture characteristic of benign childhood partial epilepsy (BCPE). All patients were put on monotherapy with sodium valproate, and their long-term course was excellent with remission of absences and normalization of EEG recordings. The exceptionality of our observation favors the hypothesis that BCPE and absence epilepsy are distinct entities.
Myoclonic jerks involving the proximal limb musculature and tic-like movements (sniffing, coughing, or sighing) were observed in an 11-year-old boy with benign occipital epilepsy treated with carbamazepine (CBZ). The involuntary movements disappeared a few days after withdrawal of CBZ and reappeared with CBZ reintroduction. Plasma CBZ levels were always within the therapeutic range. Polygraphic studies failed to show any electroencephalogram (EEG) changes during myoclonic jerks. Appearance of nonepileptic myoclonus in epileptic children treated with CBZ should be carefully evaluated to prevent worsening of the clinical picture. The coexistence of other involuntary movements (tics) could suggest the correct diagnosis.
Kufs disease, the late-onset form of a group of neurodegenerative disorders, known as the neuronal ceroid-lipofuscinoses, is characterized by intraneuronal/extraneuronal accumulation of proteins that are visible as fingerprint inclusions and granular osmiophilic deposits (GRODs) at the ultrastructural level. A problematic case of Kufs disease in a 53-year-old female affected by progressive gait disturbances, myoclonus, epilepsy, and profound dementia is presented. Laboratory, biochemical, and molecular genetic tests were unremarkable. A magnetic resonance imaging of the brain revealed a moderate atrophy over both hemispheres with no white matter changes. Ultrastructural examination of rectal mucosa biopsies showed fingerprint inclusions in perivascular smooth muscle cells. Pathological examination of autoptic tissues showed numerous intraneuronal PAS-positive, diastase-resistant inclusions corresponding to GRODs at the ultrastructural examination, but no fingerprint inclusions. Cerebellum, skeletal, and cardiac muscles, skin, and liver were unaffected. The present case illustrates the diagnostic difficulties encountered while examining Kufs disease pathological samples. Main problematic issues include (1) specificity and diagnostic value of fingerprint inclusions when found exclusively in perivascular smooth muscle cells; (2) safe distinction of GRODs from lipofuscin inclusions in cerebral tissue; and (3) reliability in using extraneural tissues and, in particular, rectal mucosa biopsies for diagnostic purposes.
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