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ABSTRACT: Canavan disease, or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain. The disease results from the accumulation of N-acetyl aspartic acid in the brain, due to aspartoacylase deficiency. We report the case of a 6-month-old girl who presented with megalencephaly, peripheral hypertonia, and a developmental delay noticeable after 4 months of age. Magnetic resonance imaging of the brain with spectroscopy was suggestive of Canavan disease, which was confirmed by chromatography of urinary organic acids.
Archives de Pédiatrie 05/2013; · 0.30 Impact Factor
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ABSTRACT: INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiological entity characterized by neurologic symptoms in association with usually reversible bilateral posterior hemispheric edema on neuroimaging. It has been described in adults more than in children. Many pathological conditions and treatments have been associated with this syndrome. CASE REPORT: We report the case of an 11-year-old boy who presented with acute postinfectious glomerulonephritis, renal failure, and arterial hypertension. Two days after admission he developed generalized tonic clonic seizures. His blood pressure was 145/90mmHg. Computed tomography showed hypodense lesions in the occipital and frontal areas. Based on the clinical manifestations and the typical pattern of brain imaging, the diagnosis of PRES was retained. Clinical manifestations and radiological abnormalities resolved after antihypertensive therapy. Axial FLAIR images and diffusion-weighted magnetic resonance images showed a slight hyperintensity signal in the left occipital area. CONCLUSION: Acute postinfectious glomerulonephritis in children should be considered a risk factor for developing PRES.
Archives de Pédiatrie 04/2013; · 0.30 Impact Factor
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Archives de Pédiatrie 04/2013; · 0.30 Impact Factor
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Archives de Pédiatrie 04/2013; · 0.30 Impact Factor
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ABSTRACT: Background: primary distal renal tubular acidosis in children (RTA) is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen (H+) in the distal tubular. aim: To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. Patients and methods: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years (1988-2010). We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. results: During the study period 15 cases of distal RTA were collected. The average age was 6 months (1 month -2 years). Most common presenting symptoms were vomiting (8cases), failure to thrive (4cases), lack of appetite, polyuria-polydipsia syndrome (1case) and urinary infection (2cases). The clinical examination showed staturoponderal delay (9 cases), dehydration (6 cases), signs of rickets (3 cases) and polyuria (10 cases). Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. Conclusion: The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology.
La Tunisie médicale 04/2013; 91(4):258-262.
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M Soltani,
I Bouanene,
A Trabelsi,
A Harbi, M Hachicha,
F Amri,
S Boussnina,
M N Gueddiche,
M T Sfar,
N Teleb,
M Ben Ghorbel,
E Ben Hamida
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ABSTRACT: BACKGROUND: Rotavirus is the major cause of severe acute gastroenteritis among young children. The objectives of this study were to assess the epidemiology, clinical and virological features of community-acquired rotavirus acute gastroenteritis, in children under 5 years of age, hospitalized in Tunisia. METHODS: A multicenter prospective observational study was conducted from April 2009 to March 2011, in 11 sentinel pediatric departments. Clinical data and stool samples were collected for all children under 5 years, admitted for acute gastroenteritis. Rotavirus was detected by Elisa immunoassay test and genotyped for G and P by semi-nested multiplex RT-PCR. RESULT: A total of 621 children were enrolled in this study. Rotavirus was detected in 30.3% of cases (95% CI [26.7-33.9]). The estimated incidence rate of rotavirus acute gastroenteritis was 11 cases/100,000 child-years (95% CI [9.43-12.57]). This infection affected predominantly children aged under 24 months, and occurred mainly in winter (55.3%). Vomiting, fever and dehydration were observed in 79.6%, 69.5% and 57% respectively. Genotype analysis identified four G types (G1, G2, G3 and G4) and 4 P types (P[4], P[6], P[8] and P[9]). The most common G/P combination was G3P[8] (24.4%), followed by G4P[8] (13.3%) and G1P[8] (6.5%). CONCLUSION: These results highlight the frequency and potential severity of rotavirus acute gastroenteritis in pediatric hospital settings. The present study could provide a sufficient database to make a decision related to the introduction of rotavirus vaccine in Tunisian national immunization program.
Revue d Épidémiologie et de Santé Publique 11/2012; · 0.78 Impact Factor
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Archives de Pédiatrie 10/2012; · 0.30 Impact Factor
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Archives de Pédiatrie 10/2012; · 0.30 Impact Factor
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ABSTRACT: Congenital rubella syndrome resulting from maternal rubella infection can cause serious multisystemic malformations resulting in severe morbidity and mortality. After immunization, its incidence has been reduced in the developed world, though it remains a real problem in developing countries since it causes many handicaps. In Tunisia, despite including rubella immunization in the routine national program on immunization for girls once they reach the age of 12, the congenital rubella syndrome still exists. We describe the clinical pattern and the outcome of congenital rubella syndrome in 2 infants and emphasize the necessity of recommending universal screening and follow-up vaccination of susceptible females and including rubella immunization in the routine national immunization program, especially in developing countries.
Archives de Pédiatrie 09/2011; 18(11):1191-5. · 0.30 Impact Factor
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ABSTRACT: Acute Parvovirus B19 infection is responsible for blocking the erythroblastic line, usually with no consequences on hematopoiesis except in patients with chronic hemolytic anemia in whom it can evolve to potentially serious acute anemia. We report 2 observations of acute erythroblastopenia revealing hereditary spherocytosis in 2 children (1 boy and 1 girl) of non-consanguineous parents.
Archives de Pédiatrie 09/2011; 18(9):990-2. · 0.30 Impact Factor
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ABSTRACT: Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms. We report a particular case of Aicardi syndrome characterized by the association of the classical triad of severe bilateral ptosis, pontocerebellar hypoplasia, and perisylvian polymicrogyria in a girl born to non-consanguineous parents, but whose mother suffered from idiopathic generalized epilepsy.
Archives de Pédiatrie 09/2011; 18(9):970-3. · 0.30 Impact Factor
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O Kassar,
F Kallel,
Th Kammoun,
I Jedidi,
Ch Kallel,
H Sennana,
S Hdiji,
L Ben Mansour,
H Bellaaj,
N Ajmi,
A Saad, M Hachicha,
M Elloumi
La Tunisie médicale 01/2011; 89(1):89.
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Archives de Pédiatrie 11/2010; · 0.30 Impact Factor
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Archives de Pédiatrie 10/2010; 17(12):1685-6, 1725-7. · 0.30 Impact Factor
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ABSTRACT: Hypoplasia of the carotid arteries is a rare congenital anomaly which, when symptomatic, presents as cerebral ischemia or hemorrhage. We report a case of hypoplasia of the carotid arteries revealed by cerebral ischemic stroke in an infant with hereditary spherocytosis. The diagnosis was confirmed by MR angiography. We describe this rare cause of stroke in children and the characteristics of its association with hereditary spherocytosis.
Archives de Pédiatrie 10/2010; 17(12):1657-60. · 0.30 Impact Factor
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ABSTRACT: The association of cholelithiasis and portal cavernoma is rarely described in adult or pediatric patients. We report 2 cases of gallstone associated with portal cavernoma in 2 girls. The first one suffered from Evans syndrome associated with congenital immune deficiency. The portal cavernoma was discovered with gallstone after splenectomy indicated because of high steroid dependence. In the second case, the cavernoma complicated neonatal umbilical catheterism. The gallstone was asymptomatic and discovered on annual ultrasonography. Septicemia, profound thrombocytopenia, and acute anaemia led to rapid death in the first case. However, the progression was favourable under celioscopic treatment in the second one. Our original observations suggest systematically searching for gallstone in children with portal cavernoma.
Archives de Pédiatrie 03/2010; 17(5):507-10. · 0.30 Impact Factor
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M Elleuch,
M Mnif Feki,
M Kammoun,
N Charfi,
N Rekik,
A Bouraoui,
T Kammoun,
N Belguith,
H Kammoun,
M T Sfar, M Hachicha,
M Abid
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ABSTRACT: Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. We report the results of a 21-year retrospective study, conducted in 49 patients with Turner syndrome. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of a Tunisian population with Turner syndrome and to search for correlations between genotype and phenotype. The average age of our patients at diagnosis was 14 years (1 day-42 years). Twenty-four percent of them were diagnosed in adulthood (greater than or equal to 20 years). Turner syndrome was diagnosed later in the case of mosaicism (P=0.001). Short stature was present in 85% of cases; it was more frequent among the youngest and monosomics. The dysmorphic syndrome was observed in 85% of cases; it was significantly more frequent in monosomics (P=0.003). Delayed puberty was present in 62.4% of cases, it was almost constant in monosomics (P=0.05). The loss of ovarian function was more severe in case of monosomia compared to other forms (P=0.04). Our results report a high frequency of autoimmune diseases (18/46 cases) including dysthyroidism (eight cases). Hepato biliary affections were more frequent in mosaicism compared to monosomy. The average final height was greater even in mosaicism estimated at 150.5 cm compared to 141 cm in monosomics and 138.8 cm in mosaics with abnormal structures.
Annales d Endocrinologie 02/2010; 71(2):111-6. · 0.74 Impact Factor
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Archives de Pédiatrie 02/2010; 17(4):426-8. · 0.30 Impact Factor
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A Chouikha,
M Ben Hadj Fredj,
I Fodha,
I Mathlouthi,
M Ardhaoui,
N Teleb,
I Brini,
F Messaadi,
M Mastouri,
T Sfar, [......],
T Kammoun,
A Bouaaziz,
F Amri,
A Harbi,
M Zribi,
S Bousnina,
A Khemakhem,
N Boujaafar,
A Trabelsi,
A D Steele
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ABSTRACT: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to determine the evolution of group A Rotavirus strains circulating in Tunisia over a 3-year period (2005-2007).
A total of 1503 stool samples collected from children less than five years old, consulting or hospitalised in Tunisia for diarrhoea between 2005 and 2007, were screened for the presence of group A Rotaviruses. Rotavirus-positive specimens were further analyzed by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR.
Rotaviruses were detected in 323 stool samples over 1503 (21 %). Long electropherotypes predominated in Tunisia during the whole period of study (N=158 vs N=82 short electropherotypes). VP7 genotyping showed the cocirculation of five different genotypes: G1, G2, G3, G4 and G9. VP4 typing detected four different P-genotypes: P[8], P[4], P[6] and P[11]. Rotavirus strains with G3P[8] specificity were predominating in Tunisia in 2005 and 2006, replaced by G2P[4] strains in 2007.
Pathologie Biologie 11/2009; 59(4):e79-83. · 1.53 Impact Factor
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A Chouikha,
I Fodha,
M Ben Hadj Fredj,
M Ardhaoui,
N Teleb,
I Brini,
F Messaadi,
M Mastouri,
T Sfar, M Hachicha,
T Kammoun,
A Bouaaziz,
F Amri,
A Harbi,
M Zribi,
S Bousnina,
A Khemakhem,
N Boujaafar,
A Trabelsi,
A D Steele
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ABSTRACT: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to detect a relationship between electropherotype pattern and molecular characteristics of the rotavirus strains.
Were analyzed 278 rotavirus-positive specimens by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR. Pearson's correlation tests were used for statistical analysis.
Twelve different electropherotypes were visualized, eight with a long profile (186 cases) and four with a short one (87 cases). Concerning VP7 types, G2 viral strains were found to be predominant and were detected in 91 specimens (32.7%). Strains with G1, G3, G4, G8 and G9 specificities were detected in 62 (22.3%), 82 (29.5%), 13 (4.7%), two (0.7%) and seven cases (2.5%), respectively. The results of VP4 genotyping showed a predominance of P[8] genotype which comprised half of the strains identified (139 cases, 50%). VP4 P[4], P[6] and P[11] were found in 83 (29.9%), 31 (11.1%) and 11 (4.0%) specimens, respectively. A high rate of mixed strains was also found (1.8% mixed electropherotypes, 7.6% G-mixed and 5% P-mixed strains). Electropherotype pattern of rotavirus strains was significantly correlated with VP7 genotype (p=0.018) and with VP4 genotype specificities (p<0.001).
Pathologie Biologie 05/2009; 59(3):e43-8. · 1.53 Impact Factor
