Bloom syndrome complicated by colonic cancer in a young Tunisian woman.

Bloom syndrome (BS) is an autosomal recessive inherited disorder characterized by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with short stature, photosensitivity, variable degrees of immunodeficiency, and hypogonadism. We report a 19-year-old woman, with history of dysmorphic features and recurrent infections. The diagnosis of bloom syndrome was made and confirmed cytogenetically at the age of 14 years. She developed a colon cancer revealed by venous thrombosis and anemia. She died after 15 days of the cancer diagnosis. This is the first registrated case of confirmed Bloom syndrome in Tunisian population.

A case of primary biliary cirrhosis associated with pernicious anemia: a case report.

Primary biliary cirrhosis is often associated with autoimmune diseases. However, its association with pernicious anemia has rarely been reported.We report a case of a 68-year-old woman who presented jaundice and pruritus. Mildly elevated serum levels of alkaline phosphatase and gamma-glutamyl transpeptidase were detected. The titer of anti-mitochondrial M(2 )anti-body was elevated. Histology of liver biopsy showed features of primary biliary cirrhosis. In addition, aregenerative macrocytic anemia was found in the full blood count. The diagnosis of pernicious anemia was established by megaloblastosis in bone marrow, atrophic gastritis without Helicobacter pylori, low level of vitamin B(12 )and good response to treatment regimen of vitamin B(12). The association of primary biliary cirrhosis and pernicious anemia is unlikely to be casual and may be explained by autoimmune mechanism commonly shared by the diseases.

Granulocytic sarcoma of the rectum: Report of one case that presented with rectal bleeding.

Granulocytic sarcoma is an uncommon and localized extramedullary tumor composed of immature granulocytic cells. It may present in association with acute myeloid leukaemia, myelodysplastic syndrome and chronic myelogenous leukaemia. Granulocytic sarcoma may occur in any anatomical site but involvement of the gastrointestinal tract is rare, especially in the rectum. We report on the case of a 17 year old female who presented with rectal bleeding, abdominal pain and weight loss one mo prior to admission. Rectosigmoidoscopy revealed a rectal polypoid and ulcerated mass. The histological examination of the mass showed granulocytic sarcoma. Bone marrow examination was compatible with acute promyelocytic leukaemia (FAB type M3). This case report is a reminder of this peculiar sign of tumoral syndrome in acute myeloid leukaemia. We also discuss diagnostic methods and analyze the disease course.

Epidemiological and clinical features of giant cell arteritis in Tunisia.

BACKGROUND: Giant cell arteritis (GCA) is a systemic vasculitis of the elderly that could result in vision loss or even be life threatening. Unlike western countries, this disease is considered exceptional in Tunisia. OBJECTIVE: The aims of this study were to determine epidemiological and clinical features of GCA in Tunisian population and to identify management difficulties. PATIENTS AND METHODS: A multicentric study of 96 patients in whom GCA was diagnosed between 1986 and 2003. All patients fulfilled the ACR criteria for classification of GCA. RESULTS: The majority of cases (77%) were diagnosed since 1994. The male/female ratio was 0.88 and the mean age at the time of diagnosis was 70.8+/-7.7 years. Clinical features were characterized by gradual onset in 64.4% of cases. The most frequent clinical manifestations were headache (91.7%), abnormalities in temporal arteries (85.4%), severe ischemic manifestations (80.2%), constitutional symptoms (75%), and polymyalgia rheumatica (56.3%). Biological inflammatory syndrome was noted in all patients. Temporal artery biopsy established histological diagnosis in 73% of cases. All patients were treated by corticosteroids. Remission was obtained in 45.6%. Relapses occurred in 40.4% of cases and 30 patients were still receiving corticosteroids at the time of study. Four patients died and irreversible ischemic complications were noted in 15.6% of cases. Steroid adverse effects occurred in 56 patients. CONCLUSION: GCA is not exceptional to Tunisia. It occurs amongst elderly patients with no female predominance noticed. Clinical features are similar to those reported in other series.

[Common variable immunodeficiency: a 7 cases reported]. / Déficit immunitaire commun variable: a propos de 7 cas.

BACKGROUND: Common variable immunodeficiency (CVID) is an immune defect characterized by primary hypogammaglobulinemia. The most clinical manifestations are recurrent infection of respiratory tract. AIM: We reported seven cases of DICV which showed METHODS: We reported seven cases of CVID between 1994 and 2004, included six women and one man. RESULTS: The mean age at the first clinical symptoms is 23 years and the mean age at diagnosis is 38. Six patients presented recurrent bacterial infection particularly of the upper and the lower respiratory tract, these infections can lead to chronic diseases such as bronchiectasis. Two patients had chronic diarrhea caused by nodular lymphoid hyperplasia, we showed two cases of granulomatous: spleen tuberculosis and pulmonary sarcoidosis. The diagnostic was confirmed by protein electrophoresis and serum levels of immunoglobulin. All patients received treatment with intravenous immunoglobulin, with a decrease in frequency and severity of infection episodes. CONCLUSIONS: Protein electrophoresis must be done in a young adult with recurrent low respiratory tract infections and/or diffuse bronchectasis.

[Adult primary myelodysplastic syndromes. Report of 36 cases]. / Syndromes myelodysplasiques primitifs de l'adulte. A propos de 36 cas.

Between 1989 and 1999, 36 cases with primary myelodysplastic syndromes were diagnosed. They were 15 male and 21 females, the median age was 62 years (range: 22 to 90 years). Eighty one per cent of patients were presented symptoms of anemia. Lymphadenopathy, splenomegaly and skin manifestations were noted in 25% of cases. Hemogram showed anemia, leucopenia and thrombocytopenia respectively in 97%, 44% and 55% of cases. Refractory anemia with excess blasts (AREB) is the most frequent FAB subtypes of MDS (17 cases). Cytogenetic study concerned 24 patients. In 13 cases the karyotype was pathological with deletion 5 q in 64% of cases. Seventeen patients have received a chemotherapy. Survival rate to 36 months is 11%. At the time, the only curative treatment is the bone marrow transplantation, which is proposed to young patients with HLA identical donor.

[Epidemiologic, clinical and therapeutic aspects of chronic lymphoid leukemia: apropos of 120 cases]. / Aspects épidémiologiques, cliniques et thérapeutiques de la leucémie lymphoïde chronique: à propos de 120 cas.

We retrospectively studied 120 cases of chronic lymphocytic leukemia diagnosed between January 1988 and December 1998. The median age of our patients was of 66 years, 75% among them were male. The discovery of the illness was fortuitous in 20% of the cases, the peripheral adenopathy and the splenomegaly were noted respectively in 72 and 48% of the cases. The blood lymphocytosis was on average 51.109/1 with extremes of 5 and 818.109/1. Anemia was noted in 71% of the cases and a thrombopenia in 42%. Fifty patients were classified C stage of BINET and sixty elevated risk according to RAI. The therapeutic attitude was according to patient's age and the CLL stage. Thus, 94 patients received a chemotherapy and a complete or partial response was observed in 58 of the cases. The overall survival at 5 years were 47%. The retained prognostic factors were the stage according to the classifications of BINET and RAI, the thrombopenia and the lymphocytosis blood overhead 100.109/1.