Solid tumors after chronic lymphocytic leukemia patients: report of six cases and review of the literature

Introduction: Malignancies have been reported to occur with increased frequency in chronic lymphocytic Leukemia [CLL] patients. The aim of this study was to describe which second malignancies occur in patients with CLL, whether these malignancies are related to CLL, its treatment, or both. We also attempt to study factors predicting the development of other malignancies

Patients and methods: Between 1995 and 2009, six cases of CLL associated with solid tumor were diagnosed in Hematology Department of Military Hospital of Tunis. The diagnosis of CLL was made by immunophenotyping of peripheral blood circulating B cells, and the diagnosis of solid tumors was made by biopsy with anatomopathological exam and immunohistochemical study

Results: The mean age of patients was 71 years. Five patients were male. The CLL was classified Stage A in one case, Stage B in three cases and Stage C in two cases. Two patients had abnormal karyotype. Three patients have not received specific treatment for their CLL. Solid tumors were represented by skin cancer in three cases, lung cancer in two cases and breast cancer in one case. The median time between diagnosis of CLL and that of solid tumor was 53 months

Conclusion: Patients with CLL have an increased risk of developing a second cancer. Awareness of risk factors could permit early detection

[Peritoneal tuberculosis - report of 43 cases]

Peritoneal tuberculosis represents 0, 1 to 4% of all forms of tuberculosis. The aim of our study is to describe clinical, therapeutic characteristics and the outcome of peritoneal tuberculosis. Retrospective study of all cases of peritoneal tuberculosis diagnosed in gastroenterology B department - Rabta Hospital during a 12 years period [1996 to 2007]. Forty three cases of peritoneal tuberculosis were included: 15 male and 28 female with mean age of 38years [extremes: 16 to 85years]. Five patients were cirrhotic. Clinical manifestations were dominated by ascitis [83%]. Ascitic fluid were exsudative in 97% of cases and lymphocytic in all cases. The diagnostic was based on coelioscopy with peritoneal biopsy in 26cases demonstrating caseating granulomatous lesions in 64% of cases. Extra peritoneal tuberculosis was noted in 60, 4% dominated by pleuro-pulmonary localisations. Patients were given antituberculous therapy for a mean duration of 9, 8 months and the outcome was favourable in 93%. Peritoneal tuberculosis is still a medical problem in Tunisia. It is more common in young female. Diagnosis is based on the results of peritoneal biopsies during coelioscopy. The outcome is good in most cases after antituberculous treatment

[Cytogenetic aspects of autism]

Autism is a neurodevelopmental disorder, which manifests itself in early childhood. It is characterized by impairments in social interaction, communication and the presence of stereotyped patterns of behaviour. In 10 to 15 percent of autistic patients, it is possible to identify chromosomal abnormalities: non specific ones or those specific to a particular syndrome. In this study we report a literature review of these cytogenetic aberrations and we insist on the interest of the autistic patients karyotype analysis

[Budd-chiari syndrome a rare complication of hepatic echinococcosis; about 3 cases]

Hydatid disease is a parasitic infestation due to the development of echinococcus granulosus in the organism. This disease is particularly frequent in Tunisia where echinococcosis is endemic. Liver is the most common organ to be involved by hydatidosis and several complications have been described. Vascular complications secondary to hepatic echinococcosis such as Budd-Chiari syndrome have rarely been reported. We present herein, three rare cases of hydatid cyst complicated by Budd-Chiari syndrome. The cyst occupied at least two segments of the hepatic dome in all patients and his diameter was 12, 5 cm, 21 cm and 12, 5 cm respectively. According to the Gharbi classification, the cysts were type III in one case and type IV in the two others. The Budd-Chiari syndrome was chronic in one patient and asymptomatic in the two others. His diagnosis was established by abdominal US in two cases, completed by US Doppler and CT angiogram in one patient and by CT angiogram in the other. The diagnosis was established only by CT angiogram in the later case. The Budd-Chiari syndrome was due to compression of two hepatic veins in one case, compression of inferior vena cava in one case and compression of one hepatic vein and inferior vena cava in one case. Laparotomy was performed in all patients. The surgical procedure consisted in resection of the protruding hepatic tissue after puncture aspiration of the cyst in the three cases. The postoperative period was complicated by abscess formation in residual cavity, requiring drainage and by development of ascitis, in one case. Hydatid cyst should be remembered amongst the causes of Budd-Chiari syndrome in countries where the disease is endemic. Conversely, this vascular complication should be looked for routinely in patients with hydatid disease of the liver

[Chromosome abnormalities with clinical sign]

Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counselling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Recently so-called molecular karyotyping, especially by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals

[Prenatal diagnosis of hemoglobinopathy: seria of 37 cases]

Objectives: to determine the main hemoglobinopathies in order to act for the reduction of the cases of homozygosis and this, by an early prenatal diagnosis

Methods: It is a retrospective study of 37 cases of antenatal diagnosis for hemoglobinopathies during a 5 years period and having detected 8 homozygous fetus

Results: The mean age of the patients was 32 years. 62 per cent of the patients were originating in the North-West of the country. 56.7 per cent of the patients had a marriage between blood relations. A family antecedent of hemoglobinopathy was noted in all of the cases. The age of the pregnancy at the time of the realization of the prenatal diagnosis was 15 weeks of amenorrhoea and 6 days. 75.7 percent of the patients had an amniocentesis and 24.3 per cent a chorionic villus sample. The detected homozygous fetus accounted for 12.6 per cent of the cases for which a medical interruption of pregnancy was practiced

Conclusion: Because of the frequency and gravity of the hemoglobinopathies in our country, of the recommendations to improve quality of tracking are in particular proposed the preferential recourse to the biopsy of the placental villi and, if necessary with the other methods of taking away when the request of the prenatal diagnosis is late

[Digeorge syndrome in a new born: DEL22q11.2 IN Tuple1 Locus]

The DiGeorge syndrome is a genetic anomaly due to the microdeletion 22q11.2. This syndrome is characterized by a large variability in the clinical features. In this report we describe a DiGeorge syndrome diagnosed in a new born of a diabetic mother. He presented mild dysmorphia, ventricular septal defect and hypocalcaemia due to hypoparathyroidism. The diagnosis was confirmed by the cytogenetic study

Pancreas hydatic cyst: a case report

Echinococcal involvement of the pancreas is extremely rare. The clinical presentation is polymorph and the diagnosis is rarely evocated before surgery. We report a 60-year-old woman presenting with epigastric pain. Abdominal examination found an epigastric mass. Radiologie explorations [Abdominal ultrasound and a computed tomography scan] revealed a pancreatic cyst located in the corpus and in the tail. The diagnosis of hydatid cyst was made at laparotomy. The cyst was treated by aspiration and injection of hypertonic saline solution followed by cystectomy. Three years later, the patient was asymptomatic without recurrence of hydatic cysts. Epidemiological, clinical, biological and radiological data should allow better detection of hydatid cysts of pancreas. Surgical treatment depends on the location of the cyst in the pancreas