[Pediatric Crohn's disease in Tunisia]. / La maladie de Crohn de l'enfant en Tunisie.

UNLABELLED: Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics. AIM: to study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children. METHODS: Retrospective multicenter study conducted in 10 pediatric departments on a period of 10 years (2000-2008) RESULTS : 43 children were included. The sex-ratio was 1.68. The mean age at the onset of the symptoms was 11+/-2.3 years (5-16 years). The age of onset was inferior to 10 years in 25 % of the children. The delay before management was superior to 1 year in 25% of cases. The initial symptoms were dominated by diarrhea (95%). Perineal manifestations were present at diagnosis in 30% of children and extra-digestive manifestations in 53%. Ileocolonic localization was the most frequent (46%). The initial disease flare was moderate in 83% of cases. The treatment was medical in 77 % of cases, nutritional and medical in 18.5%. Maintenance therapy was instituted in 86% of cases and consisted essentially in azathioprin (62%). The mean follow-up was 3 years and 4 months. 60% of the children had at least one acute flare. During evolution, 7% of children had anoperineal surgery and 11% an intestinal resection. CONCLUSION: Crohn's disease seems rare in Tunisia. The time of diagnosis is often delayed. The management is based on immunosuppressive therapy and nutritional support.

[Imported Schistosoma haematobium infection: report of 9 cases]. / La bilharziose urinaire: a propos de 9 cas importés.

BACKGROUND: Schistosomia haematobium infection has been eradicated from Tunisia since 1980. Only some imported cases are noted each year. AIM: The authors report nine cases of Schistosomia haematobium infection diagnosed. METHODS: The diagnosis was carried out within the framework of a survey carried out by the service of Pediatry of the hospital Mongi Slim of Tunis concerning 20 students of African extraction. RESULTS: Hematuria was found in all cases. Schistosomia haematobium infection is diagnosed in all patients by urinary parasitologic examination. Radiological evaluation had revealed mild uroradiologic abnormalities in five patients. All patients were treated by praziquantel. Remission was confirmed by urinary sterilization. Radiologic abnormilities persisted in 3 patients. CONCLUSION: Radiological evaluation and regular follow-up after treatment of students with Schistosomia haematobium infection is required.

[Prevalence of diabetes-related autoantibodies in celiac disease]. / Prévalence des marqueurs sérologiques du diabète de type 1 chez les enfants atteints de maladie coeliaque.

THE AIM: of this study is to investigate the prevalence of diabetes-related autoantibodies in a group of children with celiac disease and to compare it with a control group. MATERIAL AND METHODS: We recruited 31 celiac children at diagnosis (on gluten containing diet) and 31 age and sex matched healthy children. Anti-islet cell antibodies (ICA) were detected by indirect immunofluorescence on monkey pancreas. Anti-glutamate decarboxylase (anti-GAD) and anti-tyrosine phosphatase (anti-IA2) antibodies were assessed by a radio-immuno- precipitation method. RESULTS: Three out of 31 celiac patients (9.7%) had one or more diabetes-related autoantibodies. ICA, anti-GAD and anti-IA2 were found in respectively 3.2%; 3.2% and 9.7% of patients. Only one control (3.2%) had anti-GAD. There was no statistically significant difference between the 2 groups. CONCLUSION: The risk to develop diabetes seems to be the same in celiac patients and in healthy subjects thus screening of diabetes-related autoantibodies is not justified in celiac patients.

[Treatment with metyrapone of Cushing's syndrome revealing McCune-Albright syndrome]. / Traitement par métyrapone du syndrome de Cushing révélant un syndrome de McCune-Albright.

UNLABELLED: Cushing's syndrome reveals McCune-Albright syndrome in a minority of patients. Bilateral adrenalectomy is performed on the majority of cases. CASE REPORT: We present a case of McCune-Albright syndrome revealed by a Cushing's syndrome treated by metyrapone. Results were good, after a 4-year follow up. CONCLUSION: Treatment with metyrapone could be recommended, for some patients, in McCune-Albright syndrome with Cushing's syndrome before chirurgical treatment.

Genetic and immunological assessment of a bone marrow transplantation in a patient with a primary immune defect: leukocyte adhesion deficiency.

Leukocyte adhesion deficiency (LAD) was suspected in a three weeks old girl from a family with an established history of LAD with a lack (less then 1%) of the beta 2 integrins CD 11a, b/CD 18 expression at the leukocytes surface, was engrafted with her mother HLA identical bone marrow at the age of 14 months. Repeated post transplantation (up to 22 months). Immunological assessments showed a good engraftment with 97% of the lymphocytes expressing CD11a/CD18. Cells proliferated normally in response to PHA and to Tetanus toxoïd after revaccination. The level of serum immunoglobulins was normal. Investigation of the CD18 intragenic polymorphic marker Avall before and after bone marrow transplantation (BMT) showed a transition from the Avall +/+ genotype to the mother's Avall +/- genotype. Similarly DNA fingerprints obtained with the patient genomic DNA, prepared from PBMC, prior and after transplantation, showed that the patient's DNA fingerprints pattern matched the mother's one. These findings are consistent with the good engraftment observed clinically. This study emphasizes the usefulness of the molecular techniques to evaluate the degree of chimerism in monitoring the outcome of bon marrow transplantation.

Inappropriate iron intake in children on long-term parenteral nutrition: outcome after iron withdrawal.

Inappropriate parenteral iron intake in children on long-term parenteral nutrition can be responsible for iron overload. This study was carried out to monitor iron status changes when iron parenteral intake was stopped in case of iron overload. Seven children with serum ferritin concentrations above 800 ng/ml (6 with documented liver iron overload) were prospectively studied after total discontinuation of parenteral iron intake and without chelation therapy. Iron status was assessed, by means of ferritin and iron plasma concentrations, 8-15 months (T(1)) and 24-30 months (T(2)) after withdrawal of parenteral iron. Ferritin and iron concentrations declined at T(1), or T(2) in all but two children. At T(2) ferritin and iron concentrations were significantly lower (P < 0.05) than before iron parenteral discontinuation with a yearly reduction of 22 +/- 15% and 15 +/- 16%, respectively, for ferritin concentration and iron concentration. This fall in serum ferritin concentration is comparable to thalassemic subjects after bone marrow transplantation. The total withdrawal of parenteral iron intake improves iron status in children with iron overload. Nevertheless, iron overload related parenteral nutrition should be avoided by lowering iron intake in case of long-term total parenteral nutrition and by careful monitoring.

Leucine metabolism at graded amino acid intakes in children receiving parenteral nutrition.

To assess the response of protein turnover to graded levels of amino acid (AA) intakes, leucine kinetics were determined in six 8- to 16-yr-old patients in a stable nutritional status receiving home parenteral nutrition (PN) for short-bowel syndrome or intestinal pseudo-obstruction syndrome. Although daily energy intake was kept constant at 68.7 +/- 13 kcal/kg lean body mass (LBM) with 25.4 +/- 3.6% lipid, patients were given, for three consecutive 7-day periods, 0.7, 1.5, or 2.5 g AA.kg LBM-1.day-1, with the order of the regimens being randomized. On day 7 of each period, a 4-h infusion of L-[1-13C]leucine was performed during intravenous feeding; plasma [13C]ketoisocaproate and expired 13CO2 enrichments were used to assess whole body leucine turnover (Ra), oxidation rate (Ox), nonoxidative disposal [an estimate of protein synthesis (S)], and leucine derived from protein breakdown (B). Urine collection (24 h) was performed for determination of nitrogen excretion. Results indicate a dose-dependent rise in plasma leucine concentration, Ra, and Ox but no significant change in B. There was a significant increase of S (P = 0.04 analysis of variance) with increased AA intakes as well as net leucine balance (P = 0.02). Results are consistent with improved leucine balance, when leucine intake increases, despite increased leucine oxidation. The net protein gain observed with higher AA intakes may suggest a beneficial effect for children receiving long-term PN.

Iron overload in children receiving prolonged parenteral nutrition.

This study was carried out to evaluate the iron status of 30 children aged 1 to 18 years who had been receiving total parenteral nutrition (TPN) for an average of 43 months with iron intakes of 100 micrograms/kg per day. Iron status was assessed by assaying the serum iron and ferritin levels and the transferrin saturation coefficient as a function of iron intake. Liver biopsy specimens were taken from 13 children. Twelve children had serum ferritin levels greater than 300 ng/ml, and 8 had levels greater than 800 ng/ml. The serum ferritin level and the transferrin saturation coefficient were positively correlated (r = 0.81; p < 0.01). The serum ferritin level was positively correlated with TPN duration and with the total iron intake (r = 0.68; p < 0.01). Of the 13 liver biopsy specimens, six showed signs of iron deposition. We conclude that there is a risk of iron overload in children receiving 100 micrograms iron per kilogram of body weight per day by TPN, indicating that intake should be reduced.

Home parenteral nutrition in children: bioavailability of vitamins in binary mixtures stored for 8 days.

Vitamin supply in children on long-term parenteral nutrition depends on the specific age-related needs and on the bioavailability of vitamins when introduced into nutritional bags. The present study aimed to investigate the vitamin status in children on home TPN receiving nutritional bags which had been stored during a prolonged period of 8 instead of 4 days and where the new vitamin preparation Cernevit has been introduced. 19 children aged from 5 months to 11 years receiving home parenteral nutrition, for 42 months on average, were studied. Daily vitamin supply for children above 2 years of age was: A 1050 ug, D 5.5 ug, E 10.2 mg plus 0.6 mg/g lipid (Intralipid), C 125 mg, B1 3.5 mg, B2 4.1 mg, B6 4.5 mg, biotine 69 mug; children who were younger than 2 years received half of these intakes. Water soluble vitamin status was only measured in children over 3 years old. Plasma levels remained stable and adequate for age, for most of the studied vitamins. Vitamin A concentration was inferior to 200 mug/l in 1 patient with hepatopathy. Plasma concentrations of vitamin E, which were initially below 6 mg/l in 4 patients, returned to normal during the study. Plasma levels of vitamin C were below 6.2 mg/l in several infants either temporarily (5 patients) or during the whole study period (2 patients). These results support a prolongation of the intervals between preparing batches of nutritional bags and also between deliveries. This results in a considerable reduction of costs, provided that plasma vitamin levels, specially vitamin C, are regularly monitored.

[Weaver's syndrome. Apropos of a new case]. / Le syndrome de Weaver. A propos d'un nouveau cas.

We report a new case of Weaver syndrome in a male infant. This clinical entity is rare and was first described in 1974. Patients exhibit accelerated growth and skeletal maturation, craniofacial dysmorphism, and widening of the distal femoral metaphyses. Differential diagnosis should mainly out-rule Marshall-Smith syndrome that includes facial dysmorphism, accelerated skeletal maturation, growth deficiency, and mental retardation. Our case is unusual in that respiratory disorders, a feature often seen in Marshall-Smith syndrome but occurring rarely in Weaver syndrome, were present, as well as congestive cardiomyopathy that has apparently never been described in this syndrome, and major macrocrania.

[Femoral hypoplasia--unusual facies syndrome]. / Hypoplasie fémorale avec dysmorphie faciale. A propos d'une nouvelle observation.

We report a new case of femoral hypoplasia-unusual facies syndrome (FH-UFS). A review of the literature disclosed fifty-five previously published cases. Both boys and girls can be affected. The syndrome includes bilateral femoral hypoplasia; facial dysmorphism with a cleft palate, micrognathia, a long philtrum, a thin upper lip, and a short broad-tipped nose; dysplasia of the hips; and hypoplasia of the fibulae. Other malformations may be found, including skeletal defects and visceral (especially cardiovascular and genitourinary) abnormalities. Etiopathogenesis of this syndrome remains unknown. Some investigators have suggested a link between the FH-UFS and caudal dysplasia in infants born to diabetic mothers.