[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

Clinical, biological and evolutional profile of beta-thalassemia in Kairouan. About 55 cases

The authors report a retrospective study concerning 35 cases of beta-thalassemia major, collected in the pediatric service of Ibn El Jazzar Hospital in Kairouan between January 1987 and June 2004. This disease represents 1.19% of hospitalisations. The middle age of diagnosis is of 22 months [3 months - 6 years] with a sex-ratio of 0.6. Clinical symptomatology is dominated by paleness [100% of cases] and splenomegaly [97% of cases]. All patients were treated by long-term chronic blood transfusions with chelation therapy. Eleven partial splenectomies were practiced in ten patients. Three patients died at an average age of 7 years. The prenatal diagnosis, using the amniocentesis, was performed in five cases