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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.

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.

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.

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.

Coeliac disease is associated with gluten intolerance in genetically predisposed subjects. Environmental factors, particularly of viral origin, may also play a major role. In this study, the presence of IgA class anti-endomysium antibodies (AEA-IgA), IgA class anti-reticulin antibodies (ARA-IgA) and IgA class anti-gliadin antibodies (AGA-IgA) was investigated in 120 serum samples from 120 children (60 patients with coeliac disease and 60 control subjects). The AEA were detected by indirect immunofluorescence on sections of human umbilical cord. The ARA were also investigated by the same technique in rat kidney, liver and stomach. The AGA were determined by an enzyme-linked immunosorbent assay (ELISA). In the patients with coeliac disease, the sensitivity of AEA and ARA was 86% and 76% respectively. In both cases, the specificity was 100%. In children below two years of age, the sensitivity of AEA and ARA was too low, i.e., 57% and 35% respectively. In children aged between two and 15 years, the sensitivity of AEA and ARA was 95% and 89% respectively. The sensitivity of IgA class AGA was 86%, and their specificity was 83%. In this study population, these results show that IgA class AEA are interesting markers for the diagnosis of coeliac disease in the child, and could be used in screening for coeliac disease in a high-risk population.

Aim: To determine the clinical and serological characteristics in pediatric systemic lupus erythematosus (SLE). Patients and methods: This retrospective study included 37 patients with SLE. All patients fulfilled the ACR revised criteria for SLE and diagnosed between 1994 and 2009. Anti-nuclear antibodies were detected by indirect immunofluorescence (IIF) on liver rat sections. Anti-dsDNA, anti-Sm, anti-nucleosome, anti-SSA, anti-SSB and anti- RNP antibodies were detected by ELISA. Anti-dsDNA antibodies were detected also by IIF on Chrithidia luciliae. Results: The most common signs were anemia (86.5%), proteinuria (73%) and malar rash (67.6%). The frequency of arthritis and photosensitivity were 45.9% and 43.2% respectively. Leucopenia, thrombocytopenia and oral ulcer were present in 37.8%, 32.4% and 18.9% of cases respectively. The frequency of discoid rash was 13.5%. Anti-dsDNA antibodies were detected in 81.1%, anti-Sm and anti-RNP in 56.8%, anti-SSA in 43.2% and anti-SSB in 35.1%. Conclusion: The highest frequency of childhood SLE is situated at the age of puberty. Renal disease is very frequent in paediatric SLE.

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.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.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.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.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.

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.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.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).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.

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).

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.

To study the diagnostic and outcome aspects of antenatally diagnosed primary megaureters and analyse the results of the postnatal medicochirurgical management.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.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).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.

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.

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.

Megalencephalic leukoencephalopathy with subcortical cysts or Van der Knapp disease is a rare entity that has recently been identified. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. The culprit MLC1 gene is located on chromosome 22. MRI provides valuable data for diagnosis characterized by diffuse white matter lesions with subcortical cysts. We report four cases of megalencephalic leukoencephalopathy with subcortical cysts from two different families.

Despite advances in antibiotic therapy strategies and pediatric intensive care, prognosis of Streptococcus pneumoniae meningitis remains very poor. To determine the factors associated with hospital mortality of children with pneumococcal meningitis.We conducted a retrospective study of 73 cases of childhood pneumococcal meningitis admitted in 4 teaching hospitals in the center of Tunisia during a 8-year period (1995-2002).Hospital mortality was 13.7% (10 of 71 patients), and neurologic sequela were observed in 34.5% of survivors. Based on univariable analysis, five variables were associated with the outcome: Pediatric Risk of Mortality score (p0.001), coma (p=0.0009), use of mechanical ventilation (p=0.0001), convulsions (p = 0.0449), and shock (p=0.0085). In multivariable analysis, only 2 factors were independently associated with in-hospital mortality: Pediatric Risk of Mortality score and the use of mechanical ventilation. 11.8% of pneumococcal isolates were intermediate and resistant to penicillin. Non-susceptible pneumococcus strains to penicillin and the use of steroids were not associated significantly with the mortality rate.Pneumococcal meningitis remains a devastating childhood disease. Two variables were independently associated with the in-hospital death in our series (high Pediatric Risk of Mortality score, and the use of mechanical ventilation). According to these data we may recommend the inclusion of vaccination against streptococcus pneumonia in the children's immunization program in Tunisia.

The cerebral localization of the hydatid disease is rare, under 2%, and it primarily affects children. We report 4 cases of children presenting with a cerebral hydatid cyst (2 boys and 2 girls, mean age 9 years). Clinical symptoms were very progressive, the disease was frequently diagnosed several months (1-12 months) after onset of symptoms most often headaches and vomiting. One patient presented with a right tonic-clonic seizure 3 days before hospitalization. The diagnostic was confirmed in all cases by Cerebral CT scan. All the patients were screened for other localizations. One patient also presented with pulmonary and hepatic hydatid cysts. Hydatid blood tests were positive in only one case. The treatment was surgical for all the patients (using hydropulsion) without complications in 2 cases. One child presented with meningitis, and the other child with signs of secondary ICHT related to residual mass which required its puncture.

Aims. – The purpose of our study is to determine the sensitivity, specificity and predictive values of an enzyme linked immunosorbent assay (ELISA) and a dot blot assay for the detection of IgA class anti-tissue transglutaminase antibodies (IgA-AtTGA) and to compare these results with those of IgA class anti-endomysium antibodies (IgA-AEA), IgA class anti-reticulin antibodies (IgA-ARA) and IgA class anti-gliadin antibodies (IgA-AGA). Patients. – Serum samples from 143 patients (97 children, 46 adults) with untreated celiac disease (CD) confirmed by intestinal biopsy and 74 disease controls (64 children, 10 adults) were studied. Methods. – The anti-tissue transglutaminase antibodies were detected by dot blot assay and an ELISA using guinea pig tissue transglutaminase (gp-tTG) as antigen. The anti-endomysium antibodies were detected by an indirect immunofluorescence technique on cryostat sections of human umbilical cord. The anti-reticulin antibodies were also investigated by indirect immunofluorescence on cryostat sections of kidney, liver and stomach of rat. The anti-gliadin antibodies were determined by an ELISA. Results. – The sensitivity of an ELISA for the detection of anti-tissue transglutaminase antibodies was 86% in children and 87% in adults and the sensitivity of dot blot assay was 57% in children and 54% in adults. The specificity of an ELISA and dot blot for the detection for anti-tissue transglutaminase antibodies was, respectively, 96% and 88% lower than that of anti-endomysium antibodies (100%). The sensitivity of anti-gliadin antibodies was 97% in children and 91% in adults and their specificity was 85%. The sensitivity of anti-reticulin antibodies was 94% in children and 87% in adults. Their specificity was 100%. Conclusions. – The sensitivity and specificity of an ELISA for the detection of anti-tissue transglutaminase antibodies were better than that of dot blot assay. However, this dot blot assay could screen four celiac patients who have not had anti-tissue transglutaminase antibodies by an ELISA. The sensitivity of anti-endomysium antibodies was better than that of anti-tissue transglutaminase antibodies, anti-reticulin antibodies and anti-gliadin antibodies but in children aged less than 2 years, the sensitivity of anti-gliadin antibodies was better than that of anti-tissue transglutaminase antibodies.

Alloimmune thrombocytopenia is due to feto-maternal incompatibility in the HPA systems and is usually considered in the diagnosis of neonatal thrombocytopenia after other causes have been excluded. We report on two Tunisian observations of alloimmune neonatal thrombocytopenia due to anti-HPA-5b (Bra) antibodies.Two neonates presented at birth with a thrombocytopenic purpura unexplained by usual causes of neonatal thrombocytopenia. Alloimmune neonatal thrombocytopenia was diagnosed by the determination of parental and neonatal platelets antigens phenotypes and by the presence of HPA-5b (antiBra) antibodies in maternal sera. A favourable evolution was obtained after maternal platelet transfusions.Alloimmune neonatal thrombocytopenia is a serious affection, which exposes to intracranial haemorrhage. These observations of HPA-5 neonatal alloimmunisation in Tunisia provide additional information on the geographic distribution of the disease and its prognosis.

A severe form of autosomal recessive osteopetrosis associated with Dandy-Walker syndrome and agenesis of the corpus callosum is reported in a full-term boy born to consanguineous parents. The diagnosis was made shortly after birth. Clinical features were cranio-facial dysmorphy, macrocephaly, hepatosplenomegaly, severe anemia and thrombocytopenia. Skeletal radiographs revealed generalized increase in bone density and abnormal metaphyseal remodeling. Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. The patient rapidly developed severe medullary deficiency and a severe pulmonary infection. He died at the age of 2 months. This association seems extremely rare and was not previously reported in the literature.

Diabetic retinopathy (DR) is a severe complication of diabetic microangiopathy. The prevalence is low in children and increases with patient age and duration of diabetes.Full ophthalmologic examination was completed by fluorescein angiography in 36 diabetic patients diagnosed in childhood, with duration of diabetes more than 5 years.After 5 years of diabetes, 44% of the patients had DR. Background retinopathy was found in 31%, preproliferative retinopathy in 5% and proliferative retinopathy in 8% of cases. DR was associated with diabetic maculopathy in 8 patients and cataract in 4 patients. DR was correlated with the age of patients at diagnosis of diabetes, time of ophthalmologic examination, sex, duration and balance of diabetes.The frequency of DR increases with the duration and the imbalance of diabetes. The importance of well balanced diabetes and regular ophthalmologic examination were necessary to decrease the frequency of DR.

Coeliac disease is associated with gluten intolerance in genetically predisposed subjects. Environmental factors, particularly of viral origin, may also play a major role. In this study, the presence of IgA class anti-endomysium antibodies (AEA-IgA), IgA class anti-reticulin antibodies (ARA-IgA) and IgA class anti-gliadin antibodies (AGA-IgA) was investigated in 120 serum samples from 120 children (60 patients with coeliac disease and 60 control subjects). The AEA were detected by indirect immunofluorescence on sections of human umbilical cord. The ARA were also investigated by the same technique in rat kidney, liver and stomach. The AGA were determined by an enzyme-linked immunosorbent assay (ELISA). In the patients with coeliac disease, the sensitivity of AEA and ARA was 86% and 76% respectively. In both cases, the specificity was 100%. In children below two years of age, the sensitivity of AEA and ARA was too low, i.e., 57% and 35% respectively. In children aged between two and 15 years, the sensitivity of AEA and ARA was 95% and 89% respectively. The sensitivity of IgA class AGA was 86%, and their specificity was 83%. In this study population, these results show that IgA class AEA are interesting markers for the diagnosis of coeliac disease in the child, and could be used in screening for coeliac disease in a high-risk population.

In this study, the authors have reported 100 cases of primary vesico-ureteral reflux (VUR) which occurred over a 7-year period. Patient age at presentation ranged from 1 month to 13 years, with a mean age of 3 years and 5 months. Overall, a higher rate of reflux was observed in the female population (63%) which was particularly evident after the age of 3 years, but with a male predominance during the first 12 months of life. In the majority of cases, the diagnosis of VUR was made following diagnosis and investigation of urinary infection (UI). A high level of UI was the most frequent sign of VUR (87% of cases), while in 6% of cases this disorder was diagnosed during the investigation of an uropathy which was found to be complex in all subjects. An analysis of 143 ureteral reflux units (URU) showed that VUR was pathological only in 17% of cases, and that the reflux grade was I, II, III and IV in 47.4, 28.14, 11.11 and 2.34% of cases respectively. DMSA scintigraphy in 38 patients showed signs of nephropathy in 24 cases, i.e., 14 scars and a decrease in kidney size in 9 cases, and an absence of fixation for one grade IV reflux. Forty subjects with 56 reflux units (34 grade I, II and 22 grade III, IV) were treated by antibiotic prophylaxis, with a positive outcome in 85% of cases in children under 2 years of age, compared to 40% for children aged over 2 years. Only 7 patients were treated by teflon endoscopic injection, and in one case a further injection was required; 21 patients with 30 reflux units were treated by surgery at a mean age of 4 years. In conclusion, VUR is a fairly common disorder, which is frequently detected via an IU; its potential gravity is associated with the risk of subsequent nephropathy.

A series of four cases observed in the department of pediatric surgery in Monastir between 1990 and 1998 are reported. The diagnosis was made in the two first days of life. The clinical features associated paleness, shock and abdominal distension. Ultrasonography revealed that the hemoperitoneum was associated with liver hematoma in three cases and with retroperitoneal hematoma in two cases. Three infants required emergency hemostatic laparotomy. The fourth was stabilized by initial resuscitation. One infant died at the age of six months following subarachnoid hemorrhage and subdural hematoma. No complication occurred in the three remaining patients.The pathogeny, clinical features and treatment of the hemoperitoneum in the newborn are discussed. The authors stress preventive measures, the only way to decrease the incidence of this neonatal complaint.

Brachyolmia is a form of spondylodysplasia; sufferers have a short stature limited to the trunk that is recessively inherited. There may be other minor abnormalities in some cases. CASE REPORTs. Four brothers, born to consanguineous normal parents, developed short stature and scoliosis that were only identified after the age of 5 years (from 8 to 14 years). The three oldest patients had facial anomalies with flattened mid-face and enlarged lips. X-rays showed scoliosis, universal platyspondyly, irregular iliac crests and short, enlarged femoral necks.Evidence of abnormalities in other areas than the spine confirms the heterogeneity for the disease.

Parietal vascular malformations of the intestinal tract are rare and their diagnosis is often difficult.A 2 year-old boy had suffered from intermittent rectal bleeding since the age of one year. Endoscopic examination showed unspecific congestive changes and biopsy showed features of chronic inflammatory changes in the rectum. Barium enema was normal. The patient was operated on, but surgery failed to find any cause for these hemorrhages. Rectal bleedings recurred, some of them resulting in severe anemia. Two further endoscopic examination were grossly negative as was inferior mesenteric arteriography. Spontaneous rectal prolapsus occurred when the boy was 4 years old. This allowed resection of all the submucosal veins of the anal canal; it was followed by complete cessation of rectal bleeding with a follow-up of 36 months. Histological examination showed several ectasias of the capillaries and veins in the submucosa and muscular layers.Angiectases can occur in a small part of the intestinal tract, and can escape detection by repeated specialized investigation.

The case of a seven-year-old with multifocal (type II) Langheran's cell histiocytosis since the age of two years is reported. Despite therapy, biliary cirrhosis with portal hypertension developed gradually. Histologic studies of liver biopsy specimens, computed tomography, and transhepatic cholangiography disclosed dilatation of the bile ducts, suggesting sclerosing cholangitis, a specific complication of Langherans' cell histiocytosis which precipitates the development of biliary cirrhosis.

The callus that forms at the site of recent fractures in patients with osteogenesis imperfecta is usually normal, but hyperplastic callus may develop.Case 1. A hyperplastic callus with local inflammation developed at the site of a fracture of the left thigh of a boy, aged 11 months suffering from osteogenesis imperfecta. This disease was characterized by the progressive development of broad limbs, bone islands on skull x-rays and blue sclerae. He had also had fractures at the ages of 4 and 7 months. Follow-up showed that this boy, now aged 15 years, had several fractures with the development of similar hyperplastic calluses. These limitated joint motility, causing him to remain confined to his bed. Case 2. This girl of consanguineous parents had a fracture of the femora at the age of 1 month; she had blue sclerae and developed a hyperplastic callus. The roentgenographic studies showed generalized osteopenia and deformities indicating osteogenesis imperfecta.Hyperplastic callus may develop in osteogenesis imperfecta. Its diagnosis may be difficult with neoplasms of bone, such as osteosarcoma, and its treatment is difficult.

Imerslund-Najman-Grasbeck disease is a rare inherited megaloblastic anaemia secondary to a selective malabsorption of vitamin B12 by ileal enterocytes. The authors report on a 4 year-old tunisian girl who presented as visceral infantile leishmaniasis because of huge splenomegaly and major anaemia. The diagnosis of Imerslund disease was performed on the basis of the association of typical megaloblastic cells in the marrow, permanent proteinuria and favourable outcome under parenteral B12 administration. In addition, ther were no folate deficiency, no anti-intrinsic factor antibodies and no intrinsic factor deficiency. The outcome of the disease is always favourable if parenteral administration of vitamin B12 maintained.

Blackfan-Diamond anemia (BDA) is a rare hypoproliferative anemia occurring in infancy or in early childhood. Patients who fail on usual doses of steroids did not achieve remission with other pharmacological agents. Claims that other molecules such as cyclosporin A (CSA) or antithymocyte globulin (ATG) are effective require substantiation. We treated four transfusion-dependent, steroid-unresponsive BDA patients with ATG and methylprednisolone (MP). Only a transient response was obtained in one case. None of these patients responded to high-dose intravenous immunoglobulins (HDIg) or CSA.

A case of cystinosis in a three and a half-year-old is reported. Suggestive manifestations included severe rickets, small stature, and complex renal tubule dysfunction meeting the criteria for secondary Fanconi syndrome. Diagnosis was established by the discovery of retinal lesions upon ophtalmologic evaluation and, above all, by the finding that intracellular leukocyte cystine levels were increased to 16 mumol of 1/2 cystine per gram protein. Cystinosis is severe because it inevitably leads to renal failure. Much hope is currently placed in the use of cysteamine to delay this and other complications. At present, early antenatal diagnosis during the first ten weeks of pregnancy is needed in high-risk families to allow elective termination of pregnancy within the legal time limit.

Over a period of 10 years, 65 cases of hepatic cirrhosis and cirrhogenic disease have been observed in five Pediatric Centers in mid Tunisia. The age of the patients ranged from 30 days to 14 years. The main etiology was biliary cirrhosis (24 cases) followed by post-hepatic cirrhosis (15 cases). Eight cases had a metabolic origin, which was Wilson's diseases in five cases. Three children had cirrhosis of a pre-hepatic origin. In 15 children, the liver biopsy showed the presence of cirrhosis but the etiology could not be found. Preventive measures are needed in order to reduce the frequency of cirrhosis among Tunisian children: 1) early recognition of biliary atresia, 2) vaccination against hepatitis B virus of at risk neonates and children, 3) Genetic counselling and search for familial cases when cirrhosis of metabolic origin is identified, particularly Wilson's disease.

Meningococcosis are nowadays an health problem because their incidence rate (38 cases/100,000 people in 1986 in Mahdia region) and a high death rate (40%) due to fulminating forms. At the occasion of a prospective study during the first six months of 1987, the authors report the emergence of C serogroup (21%), the smallness of A serogroup (6.50%) and the predominance of B serogroup (68%). Improving level of living, good prophylaxy based on spiramycin, development of use of meningococcal vaccine are advisable means to control epidemic outbreaks.

A 5-year-old boy investigated for abnormality in right cardiophrenic angle was found on radiologic and perioperative exploration to have a large diaphragmatic hernia allowing right intrathoracic passage of stomach and colon. The diaphragmatic defect included a wide left middle diaphragmatic Bochdalek cleft adherent to hiatal orifice due to agenesis of pillars.