[Prenatal diagnosis and management of two cases of bilateral ureteroceles on simplex ureters]. / Diagnostic prénatal et prise en charge de deux cas d'urétérocèles bilatéraux sur uretères simplex.

Ureterocele is a rare urologic disorder characterized by pseudocystic dilatation of the terminal submucosal ureter. Most cases of ureteroceles are associated with complete ureteral duplicity and ureterohydronephrosis, whereas ureteroceles on simplex ureters are rarer. The authors report two cases of bilateral ureteroceles on simplex ureters diagnosed prenatally at 30 and 32weeks gestation. Fetal ultrasound had revealed bilateral ureterohydronephrosis. The delivery was made at term and renal function was normal at birth. Radiological and isotopic studies of the urinary tract confirmed the diagnosis of bilateral ureteroceles on simplex ureters that were obstructive in one case and not obstructive in the other case. Both cases had urinary antiseptic treatment and neither had urinary infection. Endoscopic puncture with electrocoagulation of ureteroceles was performed at 8 and 14months of age, respectively, with a simple postoperative course. Prenatal diagnosis of ureteroceles is essential to plan early multidisciplinary care to avoid long-term renal consequences.

Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.

INTRODUCTION: Congenital dysfibrinogenemia is a rare qualitative fibrinogen deficiency. Molecular defects that result in dysfibrinogenemia are usually caused by mutations which affect fibrinopeptide release, fibrin polymerization, fibrin cross-linking or fibrinolysis. AIM: Here, we investigated the genetic basis of hypodysfibrinogenemia in two Tunisian siblings with major bleeding. METHODS: Coagulation-related tests were performed on the patients and their family members. Functional analysis was performed in plasma fibrinogen to characterize fibrin polymerization. The sequences of fibrinogen genes were amplified and analysed by sequencing. RESULTS: Coagulation studies revealed a reduced functional and a borderline low antigenic fibrinogen plasma levels with prolonged thrombin and activated partial thromboplastin times. The fibrinogen is also characterized by a markedly impaired polymerization and could incorporate into fibrin fibres to a smaller extent (22%). Mutational screening disclosed a heterozygous single nucleotide deletion (G) at c.1025, resulting in a frameshift mutation (AαGly323GlufsX79) that is predicted to delete a part of the αC-domain containing some of the FXIII cross-linking sites. Both the normal and the aberrant Aα-chain (approximately 43 kDa) were detected by electrophoretic analysis in the patients. CONCLUSION: The new dysfunctional fibrinogen, Mahdia variant, describes its impact on fibrin assembly after the loss of the αC domains which are involved in the lateral aggregation of protofibrils. The study confirms that the truncated Aα-chain could be incorporated into mature fibrinogen molecules.

[Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins]. / Expression néonatale d'un trait bêta-thalassémique associé à une sphérocytose héréditaire chez deux jumelles monozygotes.

The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly. Laboratory tests found nonimmune hemolytic anemia with microcytosis and hypochromia justifying iterative blood transfusions. The etiological investigation found heterozygous beta-thalassemia associated with hereditary spherocytosis. The family investigation and molecular analysis objectified the beta-thalassemic mutation IVS1nt110 (G→A) in the heterozygous state in the twins, the father, the mother, and in one of the two brothers. With any nonimmune hemolytic anemia in newborns, the etiological investigation should be systematic for early diagnosis and to plan appropriate treatment.

[Spontaneous rupture of the imperforate hymen in two newborns]. / Rupture spontanée de l'imperforation de l'hymen chez deux nouveau-nés.

Imperforate hymen is the most frequent congenital malformation of the female genital tract and usually remains asymptomatic until puberty. The diagnosis of this malformation is rarely made at birth and surgical treatment is often by hymenotomy. However, spontaneous rupture of the imperforate hymen is possible but is very rare. We report two cases of imperforate hymen revealed by mucocolpos at birth. Ultrasound examination does not objectify hydrocolpos or hydrometrocolpos. Spontaneous rupture of the imperforate hymen was observed respectively in the 4th and 7th day of life with a satisfactory result at 1 month of age. Screening for the imperforate hymen must be systematic at birth to offer early hymenotomy if the spontaneous rupture is not adequate and prevent serious complications of the disease at puberty.

Epidemiology and medical cost of hospitalization due to rotavirus gastroenteritis among children under 5 years of age in the central-east of Tunisia.

Data on the economic burden of rotavirus infection in Tunisia are needed to inform the decision to include rotavirus in routine childhood immunizations. This study aimed to describe the epidemiological profile of rotavirus disease in central-east Tunisia and to estimate its hospital cost. In the first stage - the prospective collection of epidemiological data - we enrolled all patients < 5 years old who were hospitalized for acute diarrhoea at 5 university paediatric departments in central-east Tunisia during the period 2009-2011. Rotavirus was responsible for 65 (23.3%) of the 279 cases enrolled. In the second stage, cost data were collected retrospectively using an activity-based costing method from the medical records of the children who were positively diagnosed with rotavirus. The average cost of care per child was TD 433 (SD 134). This is a significant economic burden in Tunisia, where a safe and effective vaccine is available but not yet introduced to the immunization schedule.

[Prenatal diagnosis of a giant cystic lymphangioma in the axillothoracic wall]. / Diagnostic anténatal d'un lymphangiome kystique géant de la paroi thoraco-axillaire.

Cystic lymphangiomas are benign malformative tumors of the lymphatic vessels, rare but potentially serious and usually located in the cervical region. The diagnosis is usually easy, but the treatment is sometimes difficult because of their location and extension into the surrounding tissue. We report a case of giant cystic lymphangioma of the right axillary-thoracic wall diagnosed by prenatal ultrasound at 20 weeks gestation. The male infant was born at 37 weeks gestation with a large, swelling, lateral parietal right chest. Ultrasound soft tissue and chest CT scan confirmed the diagnosis of giant cystic lymphangioma of the right axillary-thoracic wall. Surgical excision was performed on the 21st day after birth and the mass was excised incompletely. The postoperative course was uncomplicated. Ultrasound soft tissue follow-up showed the persistence of multiple cystic structures in the axilla. Prenatal diagnosis of these tumors is essential for planning multidisciplinary management in early postnatal care.

[Clinical outcome and prognosis of neonatal bacterial meningitis]. / Aspects cliniques et évolutifs des méningites bactériennes néonatales.

OBJECTIVES: To study the epidemiological, clinical, and bacteriological aspects as well as the outcome of neonatal bacterial meningitis and analyze the factors of poor prognosis of this condition. PATIENTS AND METHODS: We report a retrospective analysis of 44 cases of neonatal bacterial meningitis hospitalized in the pediatric unit of Tahar Sfar Hospital in Mahdia, Tunisia, between January 1996 and December 2010. Inclusion criteria were infants less than 29 days of age who were hospitalized for bacterial meningitis diagnosed on either the presence of bacteria in cerebrospinal fluid or with more than 50 cells/mm(3), predominance of neutrophils, and the protein level greater than 1.2g/l. Clinical data were obtained through the analysis of patient files. Statistical analysis was based on the Chi(2) test, and P-values less than 0.05 were considered statistically significant. RESULTS: The incidence of neonatal bacterial meningitis was 0.49 per 1000 live births. The patients were premature in 20.4 % and low birth weight in 13.6 % of cases. The clinical presentation was not specific for most cases. The main signs at admission were hyperthermia (43.2 %), refusal to nurse (20.4 %), seizures (18.2 %), and respiratory distress (13.6 %). The cerebrospinal fluid culture was positive in 36.4 % of cases. The group B streptococcus was the most frequently isolated (62.5 %) followed by Escherichia coli (12.5 %). The association of cefotaxime-ampicillin-gentamicin was used as the first treatment in all cases. Ofloxacin was associated with initial antibiotic therapy during the first 5 days in 20.4 % of cases. The mortality rate was 15.9 % and the rate of neurological sequelae in survivors was 21.6 %. Prematurity, low birth weight, shock, respiratory distress, and pleocytosis of less than 500 cells/mm(3) were the main factors of a poor prognosis. The addition of ofloxacin to the initial antibiotic therapy was associated with a decreased rate of neurological sequelae in survivors (11 % vs. 25 %, P=0.042). CONCLUSION: This study emphasizes the severity of neonatal bacterial meningitis with high rates of mortality and neurological sequelae, especially in premature and low birth weight infants. An early diagnosis and effective antibiotic therapy is needed to improve the prognosis.

Serum copper, zinc and selenium levels in Tunisian patients with Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder. The etiology of this disease is still not fully clear, but free radicals have been proposed to cause neuronal injury. Metals play a key role in the intracellular oxidative balance. However their implication in the degeneration process remains unknown. AIM: To assess Cu, Zn and Se concentrations in serum of a group of PD patients in order to determinate, in comparison with age-matched controls, whether alteration in their levels could be involved in PD. METHODS: A serum level of 3 trace elements (Cu, Zn and Se) was investigated in 48 patients with PD and 36 matched controls using plasma atomic absorption spectrometry. We compared these parameters in PD patients with controls, and we also compared the variations within the PD group according to age, illness duration, stage of the disease and levodopa intake. RESULTS: Patients with PD had significantly lower Cu levels compared to controls. The mean Zn and Se levels in PD patients did not differ significantly from those of controls. Levodopa therapy, age, stage, and illness duration did not significantly influence the measured parameters. CONCLUSION: These results suggest that a disturbance of the plasmatic rate of Cu could be a marker of PD or at least, a risk factor for the development of this disease. Although zinc participates to the reduction of oxidative stress and the antioxidant role of the selenium, their implication in the onset of PD is not clearly established. Perspectives for the future could include antioxidant therapy. For this reason, other prospective studies should be conducted on this subject to elucidate the implication of trace elements in PD.

[Epidemiology of rotavirus gastroenteritis among children under 5 years of age in Tunisia - results of sentinel hospital surveillance 2009 to 2011]. / Épidémiologie des gastroentérites à rotavirus chez les enfants âgés de moins de cinq ans en Tunisie - Résultats de la surveillance sentinelle hospitalière 2009 à 2011.

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.

[Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation]. / Thrombose néonatale de la veine rénale et double hétérozygotie pour la mutation du facteur V de Leiden et du gène de la MTHFR.

Renal vein thrombosis (RVT) is a rare but potentially serious neonatal disease. Its epidemiology and its clinical and biological expression are currently well known, but its etiological exploration, like that of venous thromboembolism, is increasingly complex. Perinatal risk factors such as prematurity, dehydration, and birth asphyxia have lost their direct accountability at the expense of their interaction with constitutional disorders of hemostasis. We report a case of RVT in a newborn who was a heterozygous carrier of both factor V Leiden and the methylene tetrahydrofolate reductase (MTHFR) gene mutation. We recall the clinical and epidemiological characteristics. A search for inborn blood coagulation disorders should be systematic in the newborn infant with venous thrombosis because of the risk of recurrence, taking into account perinatal factors and maternal thrombophilia (especially if RVT is established during the prenatal period).

[Spontaneous regression of a giant facial hemangioma]. / Régression spontanée d'un hémangiome géant de la face.

Infantile cutaneous hemangioma is a benign vascular tumor and is very frequent in infants. The evolution is mostly favorable with spontaneous regression in 80% of cases. Clinical diagnosis is easy in its triphasic typical form with a phase of sometimes brutal postnatal growth, a phase of stabilization and a phase of slow secondary regression. We report a case of a giant facial hemangioma diagnosed at birth in full-term female newborn getting the right peri-orbital and fronto-temporal region. Initial evolution was marked by a fast increase of the tumor justifying its stake under prednisone at the age of 3 months but without improvement. At the age of 6 months, the patient was hospitalized for infection of the hemangioma with favorable evolution under oxacilline. Following evolution was marked by the total regression of the hemangioma at the age of 5 years at the price of peri-orbital cutaneous scars. We discuss here the diagnostic, therapeutic and evolutionary aspects of this pathology and review of the literature.

[Management and follow-up of antenatally diagnosed primary megaureters]. / Prise en charge et évolution des méga-uretères primitifs de découverte anténatale.

INTRODUCTION AND OBJECTIVES: To study the diagnostic and outcome aspects of antenatally diagnosed primary megaureters and analyse the results of the postnatal medicochirurgical management. PATIENTS AND METHODS: The authors report a retrospective analysis of 12 patients been born between 1998 and 2009 with primary megaureter antenatally diagnosed between 20 and 32weeks of gestation. A postnatal radiological assessment comprising urinary tract ultrasound, DTPA or MAG3 renal scintigraphy, retrograde cystography, DMSA renal scintigraphy and intravenous urography was performed. All the patients were put under urinary antiseptic treatment and followed since the birth. RESULTS: This study comprised nine boys and three girls, all been born at term with normal trophicity. Mean age of antenatal diagnosis of hydronephrosis was 26weeks of gestation. Mean age of definitive postnatal diagnosis was ten months. Left megaureter was seen in five children, right in two cases and five patients had bilateral megaureter comprising a total of 17 renal units of which eight units were non-obstructed/non-refluxing, three units were refluxing, five units were obstructed and one unit was obstructed and refluxing. Megaureter was associated to controlateral ureteropelvic junction obstruction syndrome in one patient and to ipsilateral ureteral duplicity with a superior polar kidney in another case. Renal function was less than 20% in four renal units. The mean follow-up was four years (range : 10months to 11years). Outcome was marked by urinary infections in seven cases of which four patients had non-obstructed/non-refluxing megaureter. Six patients required surgical correction, two for non-obstructed/non-refluxing megaureter complicated with urinary recurring infections, three for obstructed megaureter with severe renal functional deterioration and one patient for bilateral refluxing megaureter grade V. Two other patients required surgical treatment, one for controlateral ureteropelvic junction obstruction syndrome and the other for ipsilateral ureteral duplicity with destroyed superior polar kidney. Mean age at surgery was 22,6months (range : 6 months to 7 years). CONCLUSION: Half of our patients with antenatal diagnosis of primary megaureter required surgical correction. Urinary recurring infections, renal functional deterioration less than 20% and importance of ureteral dilatation with vesico-ureteric reflux grade V were predictive factors for surgery.

Obstructive congenital epulis.

INTRODUCTION: Congenital epulis, known as a congenital gingival granular cell tumor, is a benign tumor and very rare in newborns. Voluminous or multiple tumors can cause mechanical obstruction of the oral cavity and may result in postnatal feeding and respiratory problems. DISCUSSION: We report the clinical case of a female full-term newborn who presented a tumor on the upper gum obtruding into the oral cavity discovered at birth. The pregnancy was followed normally with three prenatal ultrasounds, which did not show abnormalities. The mass was excised under local anesthesia on the second day of life. The outcome was good after surgery and regular feedings were started on the second postoperative day. Histological examination confirmed the diagnosis of gingival tumor with granular cells and absence of signs of malignancy. CONCLUSION: Prenatal diagnosis is fundamental in the therapeutic approach to this rare lesion but remains difficult because the findings are non specific and the generally late development of the tumor.

IgA anti-actin antibodies in celiac disease.

AIMS: The purpose of this study was to determine the sensitivity and specificity of IgA anti-actin antibodies (IgA-AAA) for celiac disease (CD), to investigate their usefulness as a marker of compliance in CD patients to the gluten-free diet (GFD), and to assess the relationship between their presence in the sera of CD patients and severity of intestinal mucosal damage. PATIENTS AND METHODS: A total of 182 patients with CD were studied: 63 patients were untreated; 50 patients were following a strict GFD; and 69 patients were non-compliant with a GFD. IgA-AAA was detected using a homemade enzyme-linked immunosorbent assay (ELISA). RESULTS: IgA-AAA showed a sensitivity of 41.3% and a specificity of 71.4% for a diagnosis of CD. In children, the frequency of IgA-AAA detection was lower in those following a strict GFD (23.1%) compared with untreated patients (39.4%) and those not complying with a GFD (32.5%). In patients following a strict GFD, IgA-AAA detection was significantly less frequent in children than in adults (23.1% vs. 58.3%, respectively; P<0.001). IgA-AAA was found in 17 out of 52 CD patients with total villous atrophy (32.7%), and in one out of 11 patients with subtotal villous atrophy (9%). CONCLUSION: IgA-AAA cannot replace anti-endomysium and anti-tissue transglutaminase antibodies in the diagnosis algorithm of CD, but it can serve as a reliable marker of severe intestinal mucosal damage in CD patients.

[Long-term follow-up of permanent neonatal diabetes in Tunisian infant]. / Evolution à long terme d'un diabète néonatal permanent chez un enfant tunisien.

Neonatal diabetes mellitus is a rare entity defined as hyperglycaemia occurring within the first 3 months of life that lasts for at least 2 weeks and requiring insulin therapy for unforeseeable duration. We report the case of a full-term female infant with permanent neonatal diabetes mellitus, stemming from consanguineous parents, born with severe intra-uterine growth retardation and birth weight of 1400 g. The patient presented on the 15th day of life a severe dehydration with a fever and ponderal loss of 14 %. The biology showed hyperglycaemia to 15 mmol/L, moderate metabolic acidosis, glucosuria and ketonuria. The diagnosis of neonatal diabetes mellitus was reserved, justifying its stake under insulin. Etiologic investigation showed a type HLA-DR4/DR8; anti-insulin antibodies were weakly positive, Langerhans islet cell and anti-GAD antibodies were negative. Abdominal magnetic resonance imaging scans, karyotype, molecular biology and chromatography of amino and organic acids did not show any abnormalities. During the first 2 years of age, the patient presented a big instability of glycaemia having required several hospitalizations. After 12 years of age, the patient is still under insulin with a satisfactory glycaemia balance and her growth is normal. Besides, she presents a microcephaly with a spastic walking. The search of neonatal diabetes mellitus must be systematic in front of any fetal hypotrophy allowing a premature coverage and a good prognosis.

[Postnatal diagnosis and prognosis of 2 cases of triploidy]. / Diagnostic postnatal et pronostic de 2 cas de triploïdie.

Triploidy is one of the most common chromosomal aberrations in spontaneous abortions characterized by a 69-chromosome karyotype. This chromosome abnormality is rare in live-born children. Prevalence is lower than 1/50,000. We report on two premature newborns, male and female, born at 35 and 37 weeks of gestation, who presented with severe intrauterine growth retardation, facial dysmorphy, myelomeningocele, and syndactyly. They died during the first hours of life due to respiratory distress syndrome. Analysis of the karyotype showed a homogeneous triploidy on all mitoses: 69 XXY and 69 XXX. The parental origin of the triploidy can have specific effects in the fetal phenotype and the development of the placenta.