[Wilson's disease in children - about 21 cases]

Wilson's disease is a familial affection, described the first time in 1912, which has an autosomic recessive transmission. It is characterized by an association of hepatic cirrhosis and neurologic manifestations caused by tissular accumulation of copper. To show clinical, genetic, diagnostic, therapeutic particularities and outcomes of this disease, we carried out a retrospective study concerning three pediatric departments in the Center of Tunisia [Kairouan, Farhat Hached and Sahloul hospitals]. We have collected 21 cases during a period of 17 years [from January 1983 to december 2000]. The finding's age of the disease ranges from 5 to 13 years [mean age 8 years and 9 months]. The sex ratio is 1,1. Consanguinity is found in 90% of cases. Finding circumstances are dominated by edematous and ascitic syndrome [28%] and by hepatomegaly [57.14%] a jaundice [19,5%], a pallor [9.52] and neurologic disorders [19% of cases]. A hepatic cytolysis was found in 38% and a decrease of prothrombin rate in 61% of cases. The ceruloplasmin concentration is lower than 200 mg/1 in 80% and a decrease in the blood rate of copper in 75% of cases. The urinary rate of copper was measured only in 9 patients; it was increased in 8 cases. The therapy consisted in D penicillamin in the first line. Outcome was marked by 3 cases of death. 18 patients are followed up and they are treated by D penicilamin

Syndrome of resistance to the thyroid hormones

In the adult, the daily needs of thyroid hormones are between 1.5 to 1.7 micro g/kg. In some conditions, these needs can be more important. We report the case of a woman with primary hypothyroidism that necessitated large doses of L-thyroxine. This female patient, age 47, without a family history of thyroid disease, was hospitalized in 1988 because of hypothyroidism [she had no goiter] and iron deficiency anemia. The patient was started on L-thyroxine with a dose of 150 micro g/ day [2.7micro g/kg/day] but the dose had to be increased to 650 micro g/day [12 micro g/kg/day] to obtain clinical and biological euthyroidism [TSH of l.3 microUI/L]. Six years later, while still receiving 650 micro g/day of L-thyroxine, the patient presented with signs of hyperthyroidism with a TSH of 0.01 microUI/L. The doses were progressively decreased to 125 micro g/day [2.3micro g/kg/day] over a five year period and the TSH was back to normal [0.9 micro UI/l] with clinical euthyroidism. This clinical picture is compatible with a syndrome of resistance to the thyroid hormones and the more so because transient forms similar to our case have been reported in the literature

Study of cardiovascular disease risk factors among rural schoolchildren in Sousse, Tunisia

We undertook an epidemiological survey based on a representative sample of 793 rural schoolchildren in Sousse, Tunisia to assess the prevalence of certain cardiovascular disease risk factors. The prevalence of hypertension [11.2%], hypercholesterolaemia [2.9%], hypertriglyceridaemia [1.0%], high levels of low-density lipoprotein cholesterol [0.6%] and obesity [4.0%] showed no statistically significant difference based on sex. However, smoking [4%] showed a significant gender difference [boys: 7.3%; girls 1.2%]. The relatively low cardiovascular disease risk factor profile of Tunisian children needs to be encouraged through to adulthood. Thus a school programme of heart health promotion should be established