[Transient thickening of the pituitary stalk followed by a supra-pituitary Langerhansian histiocytosis : consequence or mere coincidence ?] / Cas clinique. Épaississement transitoire de la tige pituitaire suivi d'une histiocytose langerhansienne supra-hypophysaire : conséquence ou simple coïncidence ?

One of the difficult challenges in endocrinology is the etiological diagnosis of isolated thickened pituitary stalk (PS). We report the case of a woman in whom a thickened PS was diagnosed following the onset of central diabetes insipidus revealed by polyuria-polydypsia syndrome of late pregnancy and postpartum. The pituitary exploration showed panhypopituitarism with disconnecting hyperprolactinemia. An etiological investigation for an inflammatory, granulomatous or tumour cause was carried out, but was negative. Postpartum lymphocytic hypophysitis was then retained. However, the course was puzzling with a control pituitary MRI showing disappearance of the PS thickening with paradoxical appearance of a supra-pituitary tumour, the biopsy of which concluded of being a Langerhansian histiocytosis. This paradoxical sequence is unusual and has not been reported before. It called into question the autoimmune lymphocytic origin of the thickened PS, initially considered, and raised the likelihood of a causal relationship between this PS thickening and Langerhansian histiocytosis.

Le diagnostic étiologique d'un épaississement isolé de la tige pituitaire (TP) constitue l'un des grands défis en endocrinologie. Nous rapportons le cas d'une patiente chez qui un épaississement de la TP a été diagnostiqué suite à la survenue d'un diabète insipide central révélé par un syndrome polyuro-polydypsique de fin de grossesse et du post-partum. Le bilan hypophysaire a montré un panhypopituitarisme avec une hyperprolactinémie de déconnexion. Une enquête étiologique à la recherche d'une cause inflammatoire, granulomateuse ou tumorale a été menée et s'est avérée négative. Une hypophysite lymphocytaire du post-partum a alors été retenue. Cependant, l'évolution a été déroutante avec, à l'IRM hypophysaire de contrôle, la disparition de l'épaississement de la TP et l'apparition paradoxale d'une tumeur suprahypophysaire dont la biopsie a conclu à une histiocytose langerhansienne. Cette évolution paradoxale est inhabituelle et n'a pas été rapportée auparavant. Elle a remis en question l'origine lymphocytaire auto-immune de l'épaississement de la TP, retenue initialement, et a soulevé la possibilité d'une relation de cause à effet entre cet épaississement de la TP et l'histiocytose langerhansienne.

Risk assessment for foot ulcers among Tunisian subjects with diabetes: a cross sectional outpatient study.

BACKGROUND: Diabetic foot is an underestimated and redoubtable diabetes complication. The aims of our study were to assess diabetic foot ulcer risk factors according to International Working Group on the Diabetic Foot (IWGDF) classification, stratify patients into risk categories and identify factors associated with higher-risk grade. METHODS: Cross-sectional setting over a period of 07 months, patients were randomly selected from the diabetic outpatients attending our unit of diabetology. Questionnaire and clinical examination were made by the same physician. Patients free of active foot ulcer were included. RESULTS: Among 230 patients evaluated, 10 had an active foot ulcer and were excluded. Five patients (2.27%) had a history of foot ulcer and 3(1.36%) had a lower-limb amputation. Sensory neuropathy, as measured by the 5.07(10 g) Semmes-Weinstein monofilament testing, was present in 23.63% of patients, whereas 36.82% had a peripheral arterial disease based on clinical findings, and 43.63% had foot deformities. According to the IWGDF classification, Group 0: 72.72%, Group 1: 5.9%, Group 2: 17.73% and Group 3: 3.63%. After univariate analysis, patients in higher-risk groups were significantly more often female, had higher age and BMI, longer diabetes duration, elevated waist circumference, low school level, retinopathy and hyperkeratosis. Multivariate logistic regression analysis identified 3 significant independent factors associated with high-risk groups: retinopathy (OR = 2.529, CI95 [1.131-5.655], p = 0.024), hyperkeratosis (OR = 2.658, CI95 [1.222-5.783], p = 0.014) and school level (OR = 0.489, CI95 [0.253-9.44], p = 0.033). CONCLUSIONS: Risk factors for foot ulceration were rather common in outpatients with diabetes. The screening of patients at risk for foot ulceration should start early, integrated with sustainable patient education.

[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.

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

Des données sur le fardeau économique de l'infection à rotavirus en Tunisie sont nécessaires pour décider ou non d'inclure le rotavirus dans les vaccinations infantiles systématiques. La présente étude visait à décrire le profil épidémiologique de l'infection à rotavirus dans le centre-est de la Tunisie et l'estimation de son coût hospitalier. Lors de la première phase, à savoir le recueil prospectif de données épidémiologiques, nous avons recruté tous les patients de moins de cinq ans ayant été hospitalisés pour une diarrhée aiguë dans cinq services pédiatriques universitaires du centre-est de la Tunisie entre 2009 et 2011. Le rotavirus était responsable de 65 cas sur 279 recrutés [23,3 %]. Lors de la deuxième phase, des données sur les coûts ont été recueillies rétrospectivement à partir des dossiers médicaux des enfants qui étaient positifs au rotavirus, en utilisant une méthodologie de gestion des coûts par activité.Le coût moyen des soins par enfant était de 433 dinars tunisiens [ET 134]. Ce montant représente un fardeau économique important en Tunisie, où un vaccin sûr et efficace existe mais n'est pas encore intégré dans le programme de vaccination

[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.

[Idiopathic intracranial hypertension and factor V Leiden mutation]. / Hypertension intracrânienne idiopathique et mutation du facteur V de Leiden.

Activated proteinC resistance is a frequent prothrombotic abnormality. In most cases it is due to factorV Leiden mutation by nucleotide G1691A substitution. This recently described thrombophilic defect of activated proteinC resistance has been postulated to be implicated in the pathogenesis of idiopathic intracranial hypertension (IIH). We report a case of factorV Leiden mutation in association with IIH and their likely link and implication in the management of IIH.

[Iron deficiency anemia in people aged 65 years and older: a cohort study of 102 patients]. / Anémies ferriprives chez les personnes âgées de 65 ans et plus: Etude d'une cohorte de 102 patients.

PURPOSE: Iron deficiency anemia is a common hematological abnormality in the older people. The aim of this study is to determine the clinical and biological characteristics and causes of the iron deficiency anemia in elderly patients. PATIENTS AND METHODS: We performed a retrospective study of 102 patients aged 65 years and older who were hospitalized for iron deficiency anemia in the internal Medicine Department of Mahdia University Hospital, over a 8-year period (January 2005 to December 2012). RESULT: A total of 184 patients aged 65 years or older were hospitalized for anemia during the study period. Iron deficiency was diagnosed in 102 (55.4%) of the patients, 58 were men (56.9%) and 44 were women (43.1%). The mean age was 74.7 +/- 6.3 years. The mean hemoglobin level was 7 +/- 1.7 g/dl. At least one cause of anemia was diagnosed in 90.2% of cases. A gastrointestinal bleeding was the most common etiology (70.5%). Non-steroidal anti-inflammatory drugs and anticoagulants intake were reported in 19.6% of cases. Multiple causes of gastrointestinal bleeding were identified in 12.7% of patients. Chronic gastrointestinal ulcers were the most frequent etiology (25.5%). The frequency of gastrointestinal cancers was 11.7%. CONCLUSION: Iron deficiency was the first cause of anemia in the elderly in our study. Occult bleeding from gastrointestinal lesions was the commonest cause and iron deficiency anemia in the elderly caused by an unknown etiology was rare.

[Benzylthiouracil-induced antineutrophil cytoplasmic antibody-associated cutaneous vasculitis: a case report and literature review]. / Vascularite cutanée à anticorps anti-cytoplasme des polynucléaires neutrophiles induite par le benzylthio-uracile : à propos d'un cas et revue de la littérature.

INTRODUCTION: Vasculitis associated to antineutrophil cytoplasmic antibodies is a rare complication of therapy with antithyroid medication. They were mainly reported in patients treated with propylthiouracil and rarely with benzylthiouracil. CASE REPORT: We report a 22-year-old woman treated with benzylthiouracil for Graves' disease, who developed a vasculitic skin involvement. The presence of antineutrophil cytoplasmic antibodies with anti-myeloperoxidase specificity was documented. The discontinuation of benzylthiouracil was followed by a complete disappearance of skin lesions and of antineutrophil cytoplasmic antibodies. CONCLUSION: To our knowledge, only ten cases of antineutrophil cytoplasmic antibodies vasculitis induced by benzylthiouracil have been previously reported in the literature. Our patient was characterized by the occurrence of isolated cutaneous vasculitis, without renal involvement. Early discontinuation of benzylthiouracil may have prevented the occurrence of severe visceral complication.

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.

[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.

[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).