Search

The occurrence of an isolated ovarian or pelvic relapse of acute lymphoblastic leukemia (ALL) in complete remission after chemotherapy has rarely been described. We report the case of a 12-year-old girl, treated for ALL, who developed an isolated left ovarian and fallopian tube localization without medullary or blood relapse 4 years after the end of the initial treatment. She presented with an isolated pelvic mass. The diagnosis was established by a CT-guided biopsy. The treatment consisted of a second course of chemotherapy and complementary surgery; a second complete remission was obtained.

Immunosuppressive drugs are usually used in the treatment of acquired aplastic anemia (AAA). The aim of this study was to evaluate the efficiency of a prospective therapeutic protocol using cyclosporine and androgens in the treatment of adult patients with nonsevere AAA.Twenty-nine patients diagnosed and treated at the University Hospital of Sfax (Tunisia), during a 10-year period (1991-2000) were included. In addition to symptomatic treatment (transfusion, antibiotics), all the patients received a specific treatment including two drugs: cyclosporine 5mg/kg per day and androgens 0,5mg/kg per day.The response rate at three, six and 12 months were 48, 75, and 87%, respectively. Survival rate was 52% at one year, and 37% at five and 10 years. The main toxicities were hepatic, renal, and hypertension, observed in 53, 16 and 15%, respectively. These toxicities were reversible in 65, 87 and 100% of the cases, respectively.The response and survival rates in our series are quite satisfactory when compared to those obtained with other immunosuppressive drugs (cyclosporine and antilymphocyte serum) in the literature. The addition of androgens in our patients seemed to potentiate the immunosuppression induced by ciclosporin, but secondary toxic effects were more common.

In order to select compatible human leucocytes antigens (HLA) donors for bone marrow graft, all the members of 76 families were typed by serology for HLA class I (A and B locus) and class II (DR, DQ locus) by polymerase chain-reaction-sequence-specific primes (PCR-SSP). The HLA typing interpretation revealed the existence of crossing-over in major histocompatibility (CMH) regions for two families, AB and AT, with aplastic bone marrow. The study of crossing-over site has needed the genotyping of seven short tandem repeat (STR) markers located on the short arm of chromosome 6 (D6S291, D6S273, TNFa, C1.2.C, C3.2.11, D6S265, D6S276), using ABI Prism 310 sequencer. HLA and STR Haplotypic analysis enabled us to confirm the crossing-over between locus B and DR in AB family and between locus A and B in AT family. Based in this study, we recommend to be careful in the interpretation of the results of HLA typing between donors and recipients of bone marrow. Complementary investigations should be accomplished for studying genetic abnormalities, which would be involved in this pathology.

Based on a case report of aplastic anemia associated with malformation, we discuss the diagnostic criteria and the nosologic problem between the 2 principal aplastic anemia accompanied with malformation: Fanconi disease and dyskeratosis congenita.A 19-year-old girl, issued from a third degree consanguineous marriage, was admitted because of anemic and hemorrhagic syndrome. Physical examination showed several malformations: microphtalmia, brownish spots, generalized hyperpigmentation and ungueal dystrophy without mucosal leucoplasia. Statural and ponderal retardation were noted. On the hemogram there was a pancytopenia and on biopsy, the bone marrow was desertic. The caryotype performed on peripheral blood lymphocytes after sensibilisation with mitomycin C revealed chromosomal instability aspects. Based on these clinical and biological features, the diagnosis of hereditary aplastic anaemia was retained. The patient was given norethandrolone. She died 3 months later by septic shock.Coexistence of aplastic anemia with a malformative syndrome suggests most probably an hereditary form of aplastic anemia. Fanconi anemia is the most frequent. It associates characteristic anomalies of the face, with microphtalmia, brownish spots, statural and ponderal retardation, and thumb anomalies. Ungueal dystrophy, mucosal leucoplasia are almost pathognomonic of congenital dyskeratosis. When the malformative syndrome is not characteristic, the cytogenetic study may also fail to make the differential diagnosis, as was the situation in our case.

Factor XIII deficiency is a rare autosomal recessive congenital disorder of haemostasis characterised by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. We report a study about ten patients with congenital factor XIII deficiency from seven south-Tunisian families, there are seven females. Umbilical bleeding was common and only two patients had intracranial bleeding. The standard screening tests are normal. Factor XIII activity was less than 1% in all patients. A sub-unit A deficit was detected for the ten patients. Out hemorrhagic context, five patients receive regular prophylactic transfusion with fresh frozen plasma.

Subacute necrotizing lymphadenitis or Kikuchi–Fujimoto disease is a benign pathological entity diagnosed chiefly in young adults. We report a case in a 20-year-old woman who presented with swollen lymph nodes and a fever. Disseminated lymphadenopathy with nodes measuring up to 6 cm in diameter was found upon physical examination. The erythrocyte sedimentation rate was elevated to 40 mm/h and the lactic dehydrogenase level to 593 IU/l. Findings were negative from serological tests for rubella, hepatitis B, hepatitis C, HIV, and toxoplasmosis, as well as from tests for tuberculosis. A biopsy of a cervical lymph node showed nonsuppurative necrosis, karyorrhexis, and a marked histiocytic reaction consistent with Kikuchi–Fujimoto disease. No treatment was given, and a full recovery was achieved within 3 months. In this patient, the disseminated lymphadenopathy and constitutional symptoms strongly suggested a hematological malignancy and more specifically a lymphoproliferative disease.

We report the case of a 8-year-old girl diagnosed with myelodysplastic syndrome. This case was morphologically characterized by the presence of bundle of Auer rods in the neutrophils. The evolution of the disease was marked by a quick transformation in a acute myeloid leukaemia with t(8;21) refractory to treatment. We reviewed the literature for clinical, biological and therapeutic features of this rare childhood hemopathy.

Pleural effusion caused by plasma cell involvement in multiple myeloma has been reported unfrequently, and has been described at a frequency below 1% of multiple myeloma. In this study, we report an observation with pleural effusion as first symptom of multiple myeloma. The analysis of the pleural liquid showed plasma cells with a monoclonal IgG Kappa immunoglobulin. In addition, there was a bone marrow infiltration by plasma cells, a serum monoclonal immuno-globulin of the same type and osteolytic lesions. Our patient has received one course of chemotherapy with: vincristine, melphalan, cyclophosphamide and prednisone. The patient did not respond to the therapy and died one month later. Pleural effusion seems to be an expression of aggressive myeloma. Survival exceeds rarely 4 months.

We report a retrospective study of 42 cases of lymph node tuberculosis. We noted symptoms of tuberculosis impregnation in 92%, cervical localization in 71%, positive tuberculin intra-dermo-reaction in 77%, and accelerated erythrocyte sedimentation rate in 73% of the cases. Koch bacillus was detected in expectoration, urine or gastric liquid at the rate of 11% of the cases. Lymph node function was suggestive in 4 out of 12 patients, showing giant cells with or without caseum. Lymph node biopsy, performed in 32 patients, was contributive in 94% of them. Another tuberculous localization was found in 14 cases mainly pulmonary (8 cases).

Hemoglobin abnormalities constitute a public health problem in many countries in the world. In Tunisia, these disorders were thought to affect only the North-western population. However, the existence of hemoglobinosis concentration in Kebily in south Tunisia has been suggested by previous work. In order to estimate their frequencies, we performed a screening of hemoglobin abnormalities in the North-Kebili region, to establish a prevention program of the homozygous forms.This screening concerned all 1st and 2nd grade primary school pupils in North Kebily. After a questionnaire, a blood sample was drawn from every child. Hemogram, sickling test, and hemoglobin electrophoresis at alkaline pH were performed for all children. Hemoglobin electrophoresis at acid pH and a specific hemoglobin A2 titration were performed for some children.The study concerned 1,400 children, aged between 5 and 12 years, the mean age was 7 years and 7 months +/- 10 months. Consanguinity rate and coefficient were respectively 44% and 2249 x 10(5). Endogamy was very high. The global rate of hemoglobin abnormalities was 9.4%. Drepanocytosis with a rate of 4.9% was the most frequent, followed by beta thalassemia (3.1%) and C hemoglobinosis (1.6%). These abnormalities were unequally distributed; very frequent in some localities, they were quite absent in others.This study revealed a hemoglobinosis concentration in Tunisia, which can be classified second after that of Beja in North-western Tunisia. The heterogeneous distribution of the hemoglobin abnormalities in North-Kebili region and the high consanguinity and endogamy rates constitute factors that promote homozygous and double heterozygous forms to arise and justify the elaboration of a preventive strategy.

To report the epidemiologic, clinical, biological features and course of Fanconi's anemia in southern Tunisia.During a period of 12 years we observed 43 cases. For each patient, careful clinical, biological (hemogram, myelogram, bone marrow biopsy, hemoglobin electrophoresis, karyotype) and radiological (skeleton X-rays, abdominal echography and intravenous urography) examinations were performed. All the patients who were at a pancytopenia stage were given androgens. None had a bone marrow allograft.There were 24 girls and 19 boys. The mean age at diagnosis was 10 years and 9 months. The familial character was present in 53% of the cases. The most frequent initial complaint was anemic syndrome (69%). In ten cases (24%), the diagnosis has been established during a familial investigation. Malformations were present in all cases (abnormal pigmentation: 86%; skeletal maturation retardation: 83%; facial dysmorphy: 76%; statural hypotrophy: 65%; bone abnormalities: 53%; renal malformations: 44%). Anemia was present in 88% of the cases, thrombocytopenia and neutropenia in all cases. Bone marrow was hypoplastic or aplastic in all cases on biopsies. Spontaneous chromosomal breaks were found in 79% of the studied cases. Fetal hemoglobin was increased in 80% of the studied cases with a mean level of 20.5%. Actuarial survival rate at 5 years was 48%, but long survival durations were rare (eight out of 43 patients).This disease, rare in the world, seems to be frequent in southern Tunisia. A normal karyotype (with classical techniques), found in five patients, could not discard the diagnosis; for this reason, the use of sensitizing agents should improve the sensitivity of the test. Besides, an increased level of fetal hemoglobin enabled us to suggest the diagnosis in some cases. Androgenotherapy increased the survival duration to more than 5 years in eight patients. However, bone marrow allograft remains the only possibility of cure.

Sickle cell anemia is a monogenic hereditary disease characterized by a mutation in the beta globin gene. Five major haplotypes associated with the beta S mutation have been defined: Benin, Bantu, Senegalian, Camerounian, and Arabo-Indian. Previous studies in northern Tunisia showed that sickle cell anemia was of Benin origin in this region. Patients from the south of Tunisia, mainly from the Kebili region, were not previously concerned. In this study, we have determined the beta S haplotype and evaluated phenotypical expression of the disease in 14 patients from this latter region. The use of four restriction endonucleases having polymorphic sites in the beta globin gene showed that all patients had the Benin haplotype, confirming the Benin origin of sickle cell anemia in Tunisia. This haplotype is associated with an heterogeneous expression of fetal hemoglobin (HbF) with extremes varying from 2.4 to 16.3% and a mean expression rate of 8.16%, which is in accordance with literature data. In spite of the haplotype homogeneity in our patients, clinical heterogeneity was noted. A unique case of alpha-thalassemia could not explain this heterogeneity. In contrast, we found a certain correlation between fetal hemoglobin expression and clinical severity.

Between January 1994 and June 1995, 19 cases of nasopharyngeal carcinoma, classified N2-N3 (AJC/UICC 1987) were treated by neoadjuvant chemotherapy including cisplatin 100 mg/m2 on day 1 and epirubicin 80 mg/m2 on day 1. Following course started on day 21. A clinical and scannographic evaluation was made after 3 courses of chemotherapy. Fifty-eight percent of the patients were N3. Seventy-four percent were T3-T4. Tolerance to chemotherapy was good in 100% of the cases. A functional improvement was obtained in 14 among 16 patients who were initially symptomatic. For lymph nodes, an objective response (OR) was observed in all patients. The response was complete (CR) in 53%. A regression of primary tumor was obtained in 68% of the patients, but it was complete in 16% only. Sixty-nine percent of the patients has have a tumoral OR have a lymph node CR. Ninety percent of the patients with a complete lymph node response have a tumoral regression more than 50%. A correlation seems likely between the importance of the tumoral and the lymph node responses.

This is a retrospective study on the use of cytarabine at low doses in acute myeloid leukemias in 41 patients. Four groups of AML are included: group A: 19 cases of de novo AML in elderly patients; group B: ten cases of AML in relapse; group C: five cases of AML refractory to previous treatment and group D: seven cases of secondary AML. Cytarabine was given subcutaneously at the dose of 10 mg/m2 of body surface, for 21 days per month for the first course; then 15 days per month for the following courses. The response rates were 42, 20, 0, and 43% respectively for the A, B, C, and D groups. A complete remission was attained in only 15% (six patients). Extra haematological tolerance was excellent. Infection complications were noted in 66%, whereas a severe neutropenia was observed in 34% of patients. Hemorrhagic complications were more rare (20% of patients). The mean duration of complete remission was 10 months. The median survival was 10.5 months (2 to 31 months) for the responder patients, and 2.4 months (1 to 7 months) for the non-responders. Cytarabine at low doses seems to be a good indication for first intention treatment of AML in elderly patients. It does not give a bone marrow aplasia, the infection and hemorrhagic episodes are less numerous than with conventional dose chemotherapy, the life quality is improved, and treatment at home is often possible.

Aplastic anaemia is a potentially fatal haematopoietic disorder whose aetiology is not yet clarified. In our preliminary study we have introduced cyclosporin in the aplastic anaemia treatment to evaluate its effect on the disease evolution. Ten aplastic anaemia patients, mean age 33.33 +/- 20.01 years, were treated with cyclosporine (9 +/- 2.35 mg/kg/d), prednisolone (0.5 mg/kg/d) and androgens (1 mg/kg/d). The prednisolone was always combined with cyclosporine. The androgens were administered concomitantly with the cyclosporine or alternately. Seven patients responded to the treatment after a median remission delay of 6 weeks (2-12 weeks). They became independent of blood requirements at a median of 36 weeks (8-108 weeks); the three other patients died during the first trimester without showing any improvement. Among the seven responders, two relapsed early and transiently. The rate of actuarial survival was 70 per cent. The median duration of survival was 10.5 months. The side effects observed included one case of malignant lymphoma, six cases of liver toxicity and five cases of kidney toxicity. This toxicity was reversible after dose adjustment of the cyclosporine. In our study, the introduction of cyclosporin in the aplastic anaemia treatment resulted in improved therapeutic response. Androgens should be used to maintain the haematologic response. This therapeutic protocol associated with drug monitoring seems promising and the side effects should not limit its use because of the severity of the underlying disease.

The authors report a rare case of regional portal hypertension secondary to splenic vein obstruction by left adrenal carcinoma metastasis. They review the principal literature data concerning regional portal hypertension and adrenal cortical carcinoma.

The [ 125 I ] Clq-binding activity (Clq BA) and the antibody titre against Epstein-Barr (EB) viral capsid antigen (VCA), EB nuclear antigen (EBNA) and early antigen (EA) were determined in sera from 28 nasopharyngeal carcinoma patients and 66 matched controls from Tunisia. The geometric mean titres (GMT) of anti-VCA IgG and anti-EBNA, as well as the prevalence of anti-EA, antibodies were significantly higher among the patients than in the control group. The increased Clq BA of NPC sera, as compared to that of control sera, is likely to reflect the presence of soluble immune complexes, to which the contribution of the various autoantibodies found in this disease seems to be negligible. In individual sera from these patients, the Clq BA correlated positively with the titre of IgG ( P = 0.026), but not with that of IgA, anti-VCA antibodies, indicating that the age-dependency of these different parameters was not per se a sufficient condition for a positive correlation to appear. Since the correlation between Clq BA and anti-VCA titre was restricted to the class of Ig which binds Clq, an alternative explanation is proposed in which specific anti-EBV antibodies complexed to virion structural antigens account for part of the elevated Clq BA.