Burkitt lymphoma in a child with Bloom syndrome.

BACKGROUND: Bloom syndrome is a rare disease characterized by chromosomal instability and increased risk of developing lymphoma. OBSERVATION: We report on a case of Bloom syndrome in a 5-year-old boy with Burkitt lymphoma. The diagnosis was suspected by growth retardation, repeated respiratory infections, facial telangiectasia, and a low immunoglobulin level, then confirmed cytogenetically by sister chromatid exchanges. Chemotherapy was poorly tolerated, which required reducing the doses. Unfortunately, it was not sufficient to control the neoplasm and the patient died 14 months after diagnosis. CONCLUSIONS: Cancers in Bloom syndrome are a challenge since the potentially life-threatening side effects of the chemotherapy may require modifications in standard treatment such as dose reduction, which can compromise the tumor prognosis.

[Secondary TFE3-associated renal cell carcinoma in a child treated for Ewing sarcoma]. / Carcinome à cellules claires du rein et sarcome d'Ewing pelvien : une association rare chez l'enfant en rapport avec la translocation TFE3 Xp11.2.

Renal cell carcinoma is a rare pediatric malignant tumor of the kidney. Unlike Wilms tumor, the efficacy of chemotherapy and radiation therapy in pediatric renal cell carcinoma remains uncertain. Surgery is the best treatment and prognosis is favorable when the tumor is localized and completely eradicated. We report an exceptional observation in a 7-year-old girl with renal cell carcinoma who had been treated 20 months previously for Ewing sarcoma with chemotherapy and radiotherapy. The renal tumor was revealed by abdominal pain without hematuria. She underwent a radical nephrectomy, and histopathology concluded in renal carcinoma associated with translocation Xp 11.2 grade 3 of Furhrman pT3a N1. No adjuvant therapy was given. After 3 years of follow-up, there is no evidence of local or metastatic recurrence. This observation is significant given the very young age of this patient, the occurrence after Ewing sarcoma with a short disease-free interval. It seems that translocation renal cell carcinoma is associated with previous exposure to chemotherapy, particularly topoisomerase II inhibitors or alkylating agents.

Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.

PURPOSE: Determining the frequency of M470V polymorphism in cystic fibrosis and healthy cohort in Tunisia to establish the contribution of M470V polymorphism in cystic fibrosis variable presentation and course. Additionally, studying the origin of cystic fibrosis transmembrane conductance regulator gene in Tunisian population and its evolution among populations worldwide. PATIENTS AND METHODS: The genotyping of M470V marker was realized by PCR-RFLP technique in 34 unrelated patients and 50 healthy subjects. RESULTS: Statistical difference was found in the genotype and allelic distribution between CF and control groups. Exclusive association between F508del allele and M470 allele was noted. CONCLUSION: This study has contributed to better understanding involvement of the M470V polymorphism in the CF clinical expression in the Tunisian population and has confirmed the utility of this marker in the study of the origin and evolution of the CFTR locus in the human history.

Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation and New ADAMTS 13 Mutation in a Tunisian Child.

BACKGROUND: Congenital deficiency of ADAMTS13 is characterized by systemic platelet clumping, hemolytic anemia and multiorgan failure. Although, more than 100 mutations have been reported, atypical clinical presentation may be involved in diagnostic difficulties. CASE REPORT: A 2 year old Tunisian child presented with chronic thrombopenic purpura which failed to respond to corticosteroids. Hemolytic anemia with schistocytes, occurred ten months later, with no previous history of diarrhea or any neurological abnormality. Renal function and coagulation screening tests were normal. The count of platelet improved after fresh frozen infusion (FFP). Extensive investigations revealed a severe deficiency of ADAMTS 13 activity (level< 5%). Gene sequencing identified mutation in exon 18 of ADAMTS 13 gene. Prophylactic regimen with regular infusions of FFP was associated to favorable outcome. CONCLUSION: Early ADAMTS 13 activity testing and gene sequencing associated to precocious plasmatherapy are recommended to reduce morbidity and mortality of congenital TTP.

[Pediatric Hodgkin disease in North Tunisia: clinical and therapeutic study]. / La maladie de Hodgkin de l'enfant dans le Nord Tunisien : étude clinique et thérapeutique.

PURPOSE: To assess the epidemiological, clinical and therapeutic aspects of pediatric Hodgkin disease (HD) and to study prognosis factors. PATIENTS AND METHODS: We retrospectively reviewed the medical records of children (≤18 years) with HD treated between 1st January 1994 and 31st December 2004. Chemotherapy was undertaken in different departments of hematology and oncology in the North of the country and radiotherapy was centralized at the Salah-Azaïz National Cancer Institute. RESULTS: One hundred fourteen consecutively treated patients were collected. Median age was 12 years (4-18 years) and sex-ratio was 2.25. Peripheral lymphadenopathy was the predominant circumstance of HD detection (82.5%). The predominant histologic type was nodular sclerosing (56%). Treatment included chemotherapy and involved-field radiotherapy. With a mean follow-up of 23.5 months, relapse rate was 12.2%. Five-year overall survival (OS) and event-free survival (EFS) rates were 95% and 76%, respectively. Five-year OS was 98.2% and 90.8% for early and advanced stages respectively. In multivariate analysis, stage IV (P=0.029) and early response to initial treatment (P=0.003) retained statistical significance for EFS whereas the only prognostic factor for OS was stage IV (P=0.002). The long-term side effects were rare. No secondary tumor was noted. CONCLUSION: Combined-modality therapy using chemotherapy and involved-field radiotherapy was effective and well-tolerated in early stage pediatric HD. Stage IV patients should be referred to specialized units for intensive treatment. The short median follow-up in our study cannot allow considering long-term effects.

[The re-emergence of pertussis in Tunisia]. / La réémergence de la coqueluche en Tunisie.

OBJECTIVE: The authors had for aim to analyze pertussis epidemiology in Tunisia by studying nasopharyngeal specimens of infants hospitalized in Tunis. METHODS: Between march 2007 and march 2008, clinical nasopharyngeal samples were collected from infants with a suspected diagnosis of whooping cough, pertussoid cough, or pertussis-like syndrome, admitted at the Tunis children's hospital. The laboratory diagnostic criteria were culture isolation of Bordetella species on Bordet-Gengou medium and real-time PCR. RESULTS: Fifty-nine percent of the 74 investigated children with suspected pertussis were less than two months of age. The diagnosis of pertussis was proved positive by real-time PCR for 41%. Culture was negative in all cases. CONCLUSIONS: Whooping cough is still prevalent in Tunisia despite an important vaccination coverage. Real-time PCR is an invaluable tool for the rapid diagnosis of pertussis, however culture must also be associated.

[Iatrogenic meningitis after diagnosis lumbar puncture: 3 cases reports in the paediatric Children's Hospital of Tunis]. / Méningite bactérienne iatrogène après ponction lombaire de diagnostic: à propos de trois cas observés à l'hôpital d'enfants de Tunis.

We have collected cases of iatrogenic meningitis managed in the Children's Hospital of Tunis, between January 1998 and December 2006. Clinical information about each patient were collected, all bacterial samples were investigated in the microbiology laboratory of the hospital. Bacterial isolates were identified according to conventional criteria. In the interval under study, we recorded three cases of iatrogenic meningitis after lumbar puncture. Two cases occurred in newborn admitted for suspicion of neonatal infection and one in a 2-month-old infant admitted for exploration of hyperpyretic convulsion. In all patients, the initial cerebrospinal fluid was normal. All patients developed symptoms of acute meningitis within 72 hours after lumbar puncture; the second cerebrospinal fluid was, then, typical for purulent meningitis. The causal agents isolated in the three cases were Klebsiella pneumoniae, Enterobacter cloacae, and Serratia marcescens, all resistant to beta-lactams by extended spectrum beta-lactamase production. The use of quinolones was required in all cases. Different complications were recorded: hydrocephalus and brain abscess in one case, respiratory and hemodynamic failure managed in the intensive care unit in the second, and brain hygroma in the third case. This study shows high morbidity of iatrogenic meningitis. Simple aseptic precautions undertaken before the procedure of lumbar puncture can prevent such cases. The urgent need for increasing the awareness among medical personnel in hospitals of developing countries cannot be overemphasized.

[Listeriosis in Tunis: seven cases reports]. / Les infections à Listeria monocytogenes à Tunis: à propos de sept cas.

Listeria monocytogenesis a Gram positive facultative intracellular bacterium that can be responsible for severe infections, affecting essentially pregnant women, immunocompromised patients at the early and later stages of life. In Tunisia, invasive L. monocytogenes infections are thought to be exceptional and limited data are available about listeriosis. We reported seven cases (five newborn children and two infants) of human listeriosis that occurred in Tunis from 2000 to 2008. The newborn children were hospitalized for suspicion of maternofoetal infections. The two infants were hospitalized for fever associated with digestive signs in one case and neurological signs in the other. L. monocytogenes-was isolated from culture of cerebrospinal fluid in four cases, peripheral samples in two cases and from blood culture in one case. Isolates identification was based on conventional methods. Antimicrobial susceptibility was realized according to the recommendation of the "Comité de l'antibiogramme de la Société française de microbiologie". All L. monocytogenes isolates were sensitive to amoxicillin and aminoside but resistant to 3rd generation cephalosporins. Investigations of the immune system were realized for the two infants including phenotypic analysis of peripheral blood cells by flow cytometry, lymphocyte proliferation assays, phagocytic cell functions and measurement of immunoglobulins as well as complement. All these explorations were normal for both infants. The outcome was fatal in only one case (a newborn child), and all the other patients recovered after adapted antibiotic treatment. In conclusion, our study shows that listeriosis is not exceptional in Tunis. Thus, it is necessary to know how to evoke this diagnosis, at any age, in order to establish an early and adapted antibiotic treatment and to avoid fatal outcome.

[Neisseria meningitidis invasive infections in children in Tunis: about 79 cases]. / Les infections invasives a Neisseria meningitidis chez l'enfant a Tunis : a propos de 79 cas.

We conducted a retrospective study of meningococcal invasive diseases (MID) contracted in children in Tunis between January 1997 and January 2006. The purpose of this study is to specify the clinical, epidemiological, therapeutic and evolutionary features of these infections and to determine antimicrobial susceptibility and the antigenic formula of N. meningitidis isolates. During the study period, we have collected 79 cases of MID arising in children aged 3 days to 11 years. The majority of children's were less than of 4 years (57.3%). We note a frequency of the MID in winter and in spring. The most frequent clinical shape was meningitis (53%). Twenty one patients (26.6%) had a fulminant meningococcal disease. In our series, the rate of lethality was equal to 17.7%. Among the 46 meningococcal isolates, the most frequent serogroup was the B (73%) followed by C and A. A high heterogeneousness of the antigenic formulae was observed The most frequent phenotype was NT: NST for the group B isolates and 4:P1.13 for the group C ones. N meningitidis with reduced susceptibility to penicillin and to amoxicillin account for 54% and 10% of all isolates respectively. The cefotaxim and the rifampin were uniformly active.

Only two mutations detected in 15 Tunisian patients with 11ß-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

Steroid 11ß-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. The 11ß-hydroxylase enzyme is encoded by the CYP11B1 gene and mutations in this gene are responsible for this disease. The aim of this study was to characterize mutations in the CYP11B1 gene and to determine their frequencies in a cohort of Tunisian patients. The molecular genetic analysis was performed by direct nucleotide sequencing of the CYP11B1 gene in 15 unrelated Tunisian patients suffering from classical 11ß-hydroxylase deficiency. Only two mutations were detected in homozygous state in the CYP11B1 gene of all patients, the p.Q356X in exon 6 (26.6%) and the novel p.G379V in exon 7 with large prevalence (73.3%). This is the first report of screening for mutations of CYP11B1 gene in the Tunisian population and even in the Arab population.

[Cystic pulmonary malformations: clinical and radiological polymorphism. A report on 30 cases]. / Les malformations pulmonaires kystiques : polymorphisme clinique et radiologique. A propos de 30 observations.

OBJECTIVES: This report describes different clinical pictures of cystic pulmonary malformation (CPM) and problems in diagnosis. PATIENTS AND METHODS: Cases of CPM between 01 January 1994 and 31 December 2004 diagnosed in our institution were reviewed. RESULTS: Thirty-three cases of CPM were diagnosed in 30 children. They consisted of 17 boys and 13 girls ranging from 20 days to 16 years of age at the time of the diagnosis. The CPM included: 17 cases of congenital lobar emphysema (CLE), seven bronchogenic cysts (BC), five cystic adenomatoid malformations (CAM) and four pulmonary sequestrations (PS). Three patients presented two associated lung malformations. The mean ages at the time of diagnosis varied from 2 to 88 months. The symptoms consisted of respiratory distress (n=14, 46.6%); recurrent attacks of respiratory embarrassment (n=6, 20%); pulmonary infection (n=8, 26.6%) associated with haemoptysis in two cases; haemothorax (n=1) and a chance discovery (n=1). Radiological investigations led to the diagnosis in all cases of CLE and CAM although it contributed less to the diagnosis of BC and PS. Twenty-nine patients required chirurgical treatment involving lobectomy (n=22), pneumonectomy (n=2) and cystectomy (n=8). The histopathological examinations confirmed the diagnosis in all cases and rectified the preoperative diagnosis in four cases. Except for one patient with CLE, who died a few days after a lobectomy due to acute nosocomial pneumonia, the postoperative period was uneventful in 26 children with a mean of follow-up of 24 months (4 months to 7 years). Three patients developed transient and episodic attacks of dyspnoea. CONCLUSION: CPM may be responsible for many clinical and radiological pictures that present difficulties in their diagnosis. Polymorphism is related to the type of malformation, its topography and the evolutive complications.

Primary CD30/ALK-1 positive anaplastic large cell lymphoma of the skeletal muscle in a child.

Anaplastic large cell lymphoma (ALCL) represents approximately 10 to 30% of all childhood non-Hodgkin lymphomas. It frequently involves both lymph nodes and extranodal sites whereas primary or secondary muscular involvements are quite uncommon. We describe a case of an 8-year-old boy presented with one month progressively swelling right buttock mass without association of lymphadenopathy or skin extension. Biopsy of the lesion showed large anaplastic cells with voluminous and abundant cytoplasm as well as folded nuclei. The tumour cells were positive for CD30, CD3, EMA and ALK-1. Chemotherapy resulted in durable remission status. This case emphasizes the occurrence of anaplastic large cell lymphoma in the soft tissue and the favourable outcome of ALK-positive anaplastic large cell lymphoma.

[Plastic bronchitis: report of a pediatric case]. / La bronchite plastique: à propos d'une observation pédiatrique.

Plastic bronchitis (PB) is a rare disease, characterized by the formation of obstructive branching airways tracheobronchial casts. Commonly, PB often complicates the course of cardiac or respiratory disorders. The occurrence of PB before manifestation of the underlying respiratory disease is unusual. We report on the case of a boy, aged three years and eight months, free from underlying pulmonary disease, who presented with extensive atelectasis of the left lung during an acute respiratory tract infection. Bronchoscopy revealed the obstruction of the left tracheobronchial tree with large purulent casts. After bronchoscopic removal of the casts, the boy became asymptomatic. Initial aetiological investigations were negative. Two years later, the patient developed an asthma.

Screening for celiac disease in idiopathic pulmonary hemosiderosis.

AIM: The aim of this report was to screen for celiac disease (CD) in patients with idiopathic pulmonary hemosiderosis (IPH). PATIENTS AND METHODS: Patients with IPH treated at the Children's Hospital of Tunis between 1976 and 2006 were reviewed and investigated for CD, using serological and histological tests. RESULTS: A total of 10 children (two boys and eight girls) had IPH. The mean age at diagnosis was 3.1 years. Three had digestive symptoms and positive CD serology, which was confirmed by histological data. Clinical and radiological findings improved markedly in all CD patients with corticosteroid treatment combined with a gluten-free diet. Symptoms of IPH and CD both returned in one patient who stopped the gluten-free diet. CONCLUSION: Three of our 10 patients with IPH also had CD. These data illustrate the close etiopathogenic link between IPH and CD, and strongly suggest that CD be looked for in IPH patients, especially in those with symptoms suggestive of CD.

[Acute respiratory failure revealing an idiopathic acute eosinophilic pneumonia: report of a pediatric case]. / Insuffisance respiratoire aiguë révélant un poumon aigu éosinophile idiopathique: à propos d'une observation pédiatrique.

Eosinophilic pneumonias are a group of heterogeneous disorders, rarely reported in children. We describe a case of a 12-year-old boy hospitalized for an acute febrile respiratory failure. Chest radiograph showed bilateral diffuse infiltrates. A pulmonary eosinophilic infiltration was confirmed by a major blood eosinophilia at 33,800/mm(3) associated with increased eosinophilic rate (90%) on bronchoalveolar lavage fluid. Outcome improved markedly with mechanical ventilation and corticosteroid therapy. Laboratory screenings for parasitic or allergic disease were negative. Bone marrow smear and medullar caryotype eliminated an acute leukemia. No further visceral eosinophilic injury were found. Acute eosinophilic pneumonia should be included in etiological investigation of patients with acute respiratory distress syndrome (ARDS) even in young subjects.

[Severe corrosive oesophagitis : are high doses of methyl prednisolone efficient to prevent oesophageal caustic stricture in children?]. / Les oesophagites caustiques severes. Les doses elevees de solumedrol sont-elles efficaces pour prevenir les stenoses caustiques ?

BACKGROUND: Corrosive oesophagitis stricture is the long term complication of severe corrosive oesophagitis. The aim of our study was to evaluate the effect of a high doses of steroids on incidence and quality of oesophageal stricture. PATIENTS AND METHODS: We reviewed the case histories of 28 children seen at children hospital from 31 December 1991 to 31 december 2001. These children has second and third degree oesophageal burns and they were treated by systemic Methylprednisolone (1000mg/1,73/m2 SC). RESULTS: the frequency of stricture was 12/26 (46%). Ten children required A mean of 6,7 (5,74) dilatation range (1 - 17). One patient required an oesocoloplasty. The frequency of stricture in the group treated early before the 24th hour and after the 24th hours was (9/21) (47,4%) versus (3/7) (42,9%). This difference was not significant (P = 1). The frequency of stricture in the group treated less than 21 days and more than 21 days was 6/17 (40%) versus 6/9 (66,7%). This difference was not significant (P = 0,400). High doses of methyl prednisolone seems to decrease the risk of oesophageal stricture. We found no difference between the children treated before the 24th hours and those treated after the 24 hours and those treated less than 21 days and those more than 21 days.