We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.
During 10 years of activity at our Service, we collected 1867 cases of poisoning in children. Our observations concern only subjects hospitalized at our Institute and do not include phone call consultations. Our experience confirmed a higher number of poisonings among males. As far as age was concerned, the highest percentage of cases involved children under five, with a peak between 2 and 3 years of age. A fairly high incidence (8%) of "passive" poisonings was found in infants in their first year of life as a consequence of mistakes by the mother or other people taking care of the child. Voluntary poisonings, occurring in children aged 9 or more, often involved females and accounted for 2.1% of the total. Drugs are the main cause of poisoning in children, followed by household products and by a group of different substances (spoiled foods, nonedible mushrooms, alcoholic beverages). The lowest number of poisonings occurred on Sundays. The time of the day when most accidental poisonings occurred ranged from 10:00 AM to 12:00 noon and from 6:00 to 8:00 PM. Most poisonings took place in the kitchen. The colors preferred by children are white and pink.
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