A novel large deletion in CCM1 gene in a Tunisian family.

Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.

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.

Impact of illness on mothers of children with cystic fibrosis in Tunisia: A qualitative interview study: Impact of cystic fibrosis on Tunisian mothers.

BACKGROUND: Caring for a child with cystic fibrosis (CF) is challenging and stressful and even more so in a country with limited resources. Our aim was to study the impact of CF on the daily life of mothers with children who have CF in Tunisia, emphasizing the difficulties encountered. METHODS: Overall, 20 participants were interviewed about their experiences of being caregivers and mothers of children with CF, including their knowledge about the condition, their attitude toward it, the impact of CF on their daily lives, the main difficulties they had faced, and their concerns and wishes about CF management. RESULTS: The median age of the interviewees was 39 years. None of the mothers had known about CF before; 14 of them had difficulty accepting it at first, with suicidal thoughts in one case. Six hid the illness from the close family for fear of negative prejudices. Three mothers decided to stop having children despite availability of prenatal screening. CF also influenced the mothers' social activities (n = 13) and interfered with their jobs (n = 5). It was responsible for additional expenses in all cases. Chest physiotherapy represented a daily source of coping for all participants. Hospitalization related to Pseudomonas aeruginosa infection was considered stressful and constraining by 12 mothers. The mothers' main concern was the child's life expectancy (n = 7). Their main wish was to administer a curative treatment (n = 17). CONCLUSION: CF was found to have deeply affected the mothers' psychosocial life stressing the need for the involvement of qualified psychologists and social workers together with the medical staff.

Perianal presentation of Langerhans cell histiocytosis in children.

Langerhans cell histiocytosis, previously known as histiocytosis X, is a disease whose clinical presentation varies. Although it is uncommon, Langerhans cell histiocytosis may involve the perianal region. We report the case of a 2-year-old boy who presented with perianal ulcerated vegetative lesions and seborrheic dermatitis of the scalp. Biopsy of the lesions showed Langerhans cell histiocytosis. This patient did not have any other organ involvement, which is rare. The outcome was favourable with vinblastine and corticoids.

[Laryngotracheobronchial foreign body in children: predictive factors of respiratory sequelae]. / Le corps étranger laryngo-trachéo-bronchique chez l'enfant : facteurs prédictifs des séquelles respiratoires.

BACKGROUND: Inhalation of laryngotracheobronchial foreign body in children is a serious accident that may compromise the prognosis of the child and the respiratory function in the long term. AIM: identify the predictive factors of respiratory sequelae of laryngotracheobronchial foreign body inhalation. METHODS: This retrospective study was conducted in the children hospital of Tunis during a period of nine years (2000 - 2008). In all statistical tests, the significance level was set at 0.05. RESULTS: 60 children were included in the study. The average age was 24.9 +/- 3.4 months. 2 / 3 of the children were boys. The foreign body was plant in 80% of cases. The penetration syndrome was reported in 83.7% of cases. The average time of stay of foreign body was 14 days. The chest radiograph was abnormal in 77.4% of cases. Endoscopic extraction was performed in 59 cases and a pneumectomy was conducted in one child. 30 children were followed for an average of 23 months. 18 children had not respiratory sequelae (clinical, radiological and scintigraphic). 10 children had respiratory sequelae (clinical and radiological and/or scintigraphic) at the last follow-up and four patients developed bronchial dilatation. Respiratory sequelae were correlated with the stay period of the foreign body exceeding 84H. Neither age, nor sex, nor the nature of foreign body or its location, nor the presence of radiological opacity at the initial radiograph, were predictive factors of respiratory sequelae. CONCLUSION: The inhalation of foreign body is a serious accident affecting essentially male infants. Clinical, radiological and scintigraphic follow up is mandatory.

Phenotypic and genotypic characterization of meningococcal isolates in Tunis, Tunisia: High diversity and impact on vaccination strategies.

OBJECTIVES: The aim of this study was to characterize Neisseria meningitidis (Men) isolates in Tunisian paediatric patients with invasive meningococcal disease (IMD) in order to target therapeutic and preventive strategies. METHODS: Fifty-nine isolates of Men and four cerebrospinal fluid samples that were culture-negative but Men-positive by PCR (NC-MenPPCR) (2009-2016) were collected from IMD patients. Isolates were analysed for their antimicrobial susceptibility. Whole-genome sequencing (WGS) was used to characterize isolates and multilocus sequence typing for NC-MenPPCR. Coverage of Men serogroup B (MenB) was determined by Genetic Meningococcal Antigen Typing System (gMATS) and fHbp expression by ELISA. RESULTS: MenB was the predominant type (88.9%). The majority of isolates (81%) had reduced susceptibility to penicillin G with altered penA alleles. The clonal complex CC461 (27.1%) was the most frequent. Among the MenB vaccine targets neisserial heparin binding antigen (NHBA) and fHbp, the predominant variants were NHBA118 (30.8%) and fHbp peptide 47 (25%), respectively. The nadA gene was present in 17.3% of isolates. Using gMATS, 36.5% of MenB were predicted to be covered by the 4CMenB vaccine. ELISA showed that 92.4% of the MenB were expected to be killed by anti-fHbp antibodies. CONCLUSIONS: MenB was the leading serogroup in IMD, and more than 90% had a sufficient level of fHbp expression for vaccine coverage. The study results will be useful for the Tunisian vaccination programme.

Monosomy 10q26-qter and trisomy 11q13-qter as a result of de novo unbalanced translocation.

A male infant with partial monosomy 10 q and partial trisomy 11q as a result of de novo unbalanced translocation between the long arms of chromosomes 10 and 11: der(10)t(10;11)(q26;q13) is described. He had craniofacial dysmorphy, congenital heart defects, urogenital and cerebral anomalies, and severe developmental delay. To the best of our knowledge, this is the first report of this combination of chromosomal abnormalities.

Hemophagocytic lymphohistiocytosis associated with an IgG Cold agglutinin.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease eventually caused or reactivated by a viral infection, which can also lead to the production of cold agglutinins (CA). The nature of these autoantibodies is usually an IgM, less frequently an IgA or IgG, they agglutinate red blood cells at low temperatures. They can interfere with hematological parameters causing interpretation difficulties. We report a case of a 4-year-old boy who developed an IgG CA during recurrent HLH reactivated by EBV infection. The purpose of this observation is to underline HLH criteria and to analyze CA interference as well as its biological and clinical characteristics.

[Bilateral stenosing ureteritis in Henoch-Schnlein purpura]. / Urétérite sténosante bilatérale au décours du purpura rhumatoïde de Henoch-Schönlein.

BACKGROUND: Ureteral complications in Henoch-Schonlein's purpura are rare. They may post difficult problems of diagnosis. CASE REPORT: Bilateral uretal stenosis revealed by low back pain, macroscopic hematuria, leukocyturia and renal failure appeared 15 days after the onset of Henoch-Schönlein purpura in a 14-year-old boy. It was confirmed by ultrasonography; intravenous pyelography showed stenosis of both proximal uretera associated to bilateral hydronephrosis. Treatment with corticosteroids relieved the symptoms and normalized the renal function in restoring patency of both ureters. Nevertheless, the patient was still suffering from mild bilateral hydronephrosis and bilateral renal lithiasis, 2 years later. CONCLUSIONS: Macroscopic hematuria and renal failure, usually indicative of renal involvement in Henoch-Schönlein syndrome can be the first manifestations of the ureteritis exceptionally seen in this vasculitis.

[Apropos of a mediastinal teratoma invading the lung]. / A propos d'un cas de tératome médiastinal rompu dans le poumon.

Mediastinal mature teratomas are rare in children. Diagnosis is often made in the presence of a complication. We report a case of a mature mediastinal teratoma, complicated by its opening in the lung. The patient was a four-year-eight-month-old girl. She was admitted for fever, cough and dyspnea. The chest radiography showed a large mediastinal mass with calcifications. The CT scans and MRI aided in establishing the diagnosis. Biological tests (alpha-foetoproteins and beta-HCG) confirmed the benignity of the tumor. The child was operated on with full success.

Hypersensitivity reactions to paracetamol in children: a study of 25 cases.

BACKGROUND: Allergic-like reactions to paracetamol (acetaminophen) are rare. Paracetamol allergic and nonallergic hypersensitivity (HS) has been diagnosed in a few patients with skin and/or respiratory symptoms, immediate and accelerated urticaria, and angioedema especially. Most patients with HS to paracetamol were also hypersensitive to anti-inflammatory drugs (i.e. acetylsalicylic acid, ASA), suggesting that their reactions resulted from a nonallergic HS. However, anaphylactic reactions, and potentially harmful toxidermias, such as acute generalized exanthematic pustulosis and toxic epidermal necrolysis, have been related to specific paracetamol allergic HS, with tolerance to anti-inflammatory drugs. PATIENTS AND METHODS: We report the results of a study performed in 25 children with suspected paracetamol HS. Diagnosis of paracetamol HS was based on a suggestive clinical history and a positive response in an oral challenge (OC) test. RESULTS: Paracetamol HS was diagnosed in only one child (4%). In this child, a positive response to an OC with ASA diagnosed HS to anti-inflammatory drugs. CONCLUSIONS: Our results in children agree with those of the literature, showing that paracetamol HS is rare, and is associated with HS to anti-inflammatory drugs in most patients.