Fucosidosis is a rare inherited metabolic disease characterized by severe psycho-motor degeneration. The basic defect is a deficiency of alpha-L-fucosidase which results in neuro-visceral of fucosyl compounds. We observed 7 cases of fucosidosis and an eighth case was diagnosed before birth. This review summarizes the clinical findings, radiological abnormalities and laboratory data which are indispensable for diagnosis. Clinical heterogeneity, incidence in Italian people, and difficulties in detection of carriers and in prenatal diagnosis are also discussed.

Angiokeratoma↗

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[Neurological and psychic side effects of antiepileptic drugs in pediatric age (author's transl)].

Neurological and psychic side effects of anticonvulsivant drugs in pediatric age are separately considered. Neurological side effects are classified according to different ages: in the neonatal period sedation is preeminent, later psychomotor deterioration or cerebellar and/or extrapyramidal signs may occur. Less frequently antiepileptic drugs are responsible of worsening of seizures up to a toxic encephalopathy. Psychic side effects are more variable and unpredicatable. The same drugs can cause both psychomotor excitement or psychic slowness. In a few instances psychotic syndromes can be observed. Very important are chronic side effects on intellectual activities, especially in children. Finally some factors which can affect the interpretation of the side effects have to be considered: pharmacokinetic data individual reactivity, methodology of evaluation of clinical symptoms, especially psychic ones.

Age Factors↗