[Singular etiology of inherited aplastlc anemia: a case report of congenital dyskeratosis]

Congenital Dyskeratosis [CD] is a severe inherited disease characterised by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. Other clinical manifestations including lung fibrosis and liver cirrhosis worsen the prognosis. Bone marrow hypoplasia is frequently reported, 50 per cent of patients develop pancytopenia before the age of 10 years. We report here the first Tunisian case of DC diagnosed in paediatric age and revealed by a severe bone marrow failure by the age of ten years. The classic triad appeared in the first decade, epiphora, blepharitis, teeth abnormalities and a single kidney were also noted. Androgen therapy stabilised peripheral cytopenia and, decreased the need of red blood cell transfusion

Chimiotherapy against polycythelmia due to a cyanotic congenital heart disease in adults. one case report

Hydroxyurea has largely been utilized in the management of primary polycythemia. It is certainly efficient in the short and medium terms side effects are marked by a leukemogenic risk. In this study we report the case in which hydroxyrea was for the first time used in the reatment of secondary polycythemia due to cyanotic congenital heart disease. Our patient was a 22-years-old man suffering from pulmonary atresia with ventricular septal defect, and for whom ther was no available surgical option. Because of severe symptomatic and demanding polycythemia requiring frequent phlebotomies, we decided to use hydroxyurea at the dose of Igr a day. Eight months later, ther was obvious clinical improvement with stable hematocrit levels below 60% and with only 3 phlebotomies in 8 months. Hydroxyurea seems to be an eddicient there alternative therapy for seconday polycythemia caused by incurable cyantic congenital heart disease