RESUMO
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
Assuntos
Humanos , Masculino , Anemia Aplástica/genética , Anemia Aplástica/etiologia , AndrogêniosRESUMO
The aim of the present study was to evaluate the natural history of untreated hepatocellular carcinoma [CHC] developing in patients with post viral-B cirrhosis. A retrospective analysis was performed in 34 cases of CRC, admitted at Gastroenterology Department in Sfax. Survival and prognostic factors were evaluated. There were 28 men and 6 women [sex-ratio=4, 6] with a mean age of 59, 5 years. The mean time from the diagnosis of cirrhosis to CHC was 8, 9 months. The circumstances of the diagnostic of the CHC were as follows: The follow up of a known cirrhosis in 8 cases [23, 5%]. the decompensation in 10 cases [29, 5] and the clinical manifestations dominated by abdominal pain in 14 cases [47]. Cirrhosis was evaluated as Child-Pugh A, B and C in respectively in 26, 5%, 47, 1%and 26, 4%of cases. The tumor was solitary in fifty per cent of cases. The overall median survival was 51 days [IC: 95=42, 7-59, 31 from the time of diagnosis of CRC. The only prognostic factor was the serum bilirubin with a median survival of 34 days when it was superior to 34micro mol [IC: 95=25, 1-48,8] [p<0.004]