[Simultaneous supraventricular tachycardia in twin premature newborns of a monochorionic pregnancy]. / Tachycardie supraventriculaire simultanée chez des jumeaux monozygotes prématurés.

Supraventricular tachycardia (SVT) is the most common pediatric arrhythmia. SVT occurs more frequently in infants under 1 year of age, most of whom have structurally normal hearts. Pejorative predisposing factors such as congenital heart disease exist in only a few patients. In patients with a healthy heart, SVT is due to re-entry via an accessory pathway. Some articles describe occurrence of SVT in 1 of the fetuses or newborns from multiple gestation pregnancies, but few cases report simultaneous start of SVT in twins. This observation describes simultaneous occurrence of SVT in both premature infants from a monochorionic twin gestation. Successful emergency treatment consisted in physical maneuvers increasing vagal activity. The twin neonates then received a prolonged anti-arrhythmic amiodarone treatment. Both of their electrocardiograms were normal, without Wolf-Parkinson-White syndrome. Both of their echocardiography results showed aneurysms of the atrial septum. At 6 months of age, SVT had not recurred. This case describes an original presentation of simultaneous SVT in twins and highlights the efficacy of vagal maneuvers to manage stable patients. We discuss the existence of benign predisposing heart structural abnormalities.

[Family observation of Kawasaki disease: 2 cases in sister and brother]. / Forme familiale de la maladie de Kawasaki: à propos de 2 cas dans une fratrie.

This article presents the clinical observation of 2 cases of children suffering from Kawasaki disease in the same family at a 7-year interval. This observation suggests a genetic predisposition to the disease. Epidemiological surveys conducted in Japan for some years point to a genetic factor but without proof. Childhood systemic febrile vasculitis is hard to recognise, so its diagnosis is often made lately, while there is an effective therapy, which prevents from serious cardiovascular complications. Identification of its precise cause, a necessary step before any diagnostic laboratory test, will be a major breakthrough.

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.

Congenital afibrinogenemia is an autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease in a non-consanguineous Swiss family. These were homozygous deletions of approximately 11 kb of the fibrinogen alpha chain gene (FGA). Our subsequent study revealed that the majority of cases were attributable to truncating mutations in FGA, with the most common mutation affecting the donor splice site in FGA intron 4 (IVS4+1 G-->T). Here, we report 13 further unrelated patients with mutations in FGA, confirming the relative importance of this gene compared with FGG and FGB in the molecular aetiology of afibrinogenemia. Three other patients were homozygous for mutations in FGG. Eight novel mutations were identified: five in FGA and three in FGG. Sufficient mutation data is now available to permit an effective strategy for the genetic diagnosis of congenital afibrinogenemia.

Weight loss and changes in energy metabolism in massively obese adolescents.

OBJECTIVE: To investigate the energy metabolism modifications induced by energy restriction and weight loss in massively obese adolescents. SUBJECTS: Ten massively obese girls (179 +/- 31% of ideal body weight; age, 13.3-16.4 y) after 2-5 weeks on a low-energy diet and 4.5-11.5 months later, that is, after a substantial weight loss, and eight controls. MEASUREMENTS: Resting energy expenditure (REE) and carbohydrate-induced thermogenesis (CIT) after a sucrose load (by indirect calorimetry), plasma glucose and insulin before and after the sucrose load. RESULTS: After 2-5 weeks on a low-energy diet, REE (7415 +/- 904 kJ/d) was lower than the expected value calculated from the regression equation of REE on fat free mass in controls (P = 0.005). After a 37 +/- 17% reduction in excess weight, REE decreased (6405 +/- 613 kJ/d) and remained lower than the expected value (P = 0.005). At the early stages of weight loss, the area under the plasma glucose response curve was negatively correlated with CIT (r = -0.80, P = 0.01) and was higher in the six obese adolescents with low CIT than in the four with normal CIT (396 +/- 52 vs 283 +/- 26 mmol.l-1.min-1, P = 0.01). After substantial weight loss, the area under the plasma insulin response curve decreased by 32% (P = 0.02), and both CIT and the area under the plasma glucose response curve became similar in obese patients with low and normal CIT prior to weight loss. CONCLUSION: These results indicate that in massively obese adolescents, REE for fat-free mass is decreased at the very beginning of the process of losing weight and remains decreased as long as energy restriction and weight reduction carry on. They also indicate that the impaired CIT sometimes observed returns to normal after weight reduction suggesting that it is secondary to a decrease in glucose uptake induced by obesity-associated insulin resistance.

Relation of apolipoprotein E polymorphism to lipid metabolism in obese children.

To determine whether the risk of obesity-associated dyslipidemia in children is influenced by apolipoprotein E (apoE) polymorphism, we studied 137 obese, nongenetically related children aged 2.2-14.4 y (mean age, 9.9 +/- 3.1 y) with a weight-for-height excess of 43.7 +/- 17.9%. The apoE genotype was determined by studying specific DNA restriction patterns. Total cholesterol, HDL-cholesterol, and triglycerides were assayed in plasma before dietary treatment initiation. ApoE allele and phenotype distributions were comparable to those reported in the Caucasian population at large. Fifty-five children (41%) had elevated lipid levels. Compared with obese children with the epsilon3 or epsilon4 allele, those with the epsilon2 allele were more likely to have hypertriglyceridemia (19.5% versus 52.9%, p < 0.05) and had a higher mean triglyceride level: children with the epsilon4 allele were more likely to have a LDL-cholesterol elevation (34.7% versus 13.4%, p < 0.05). Our data demonstrate that, even in childhood, obesity is associated with a marked increase in the risk of lipoprotein abnormalities and that the latter are influenced by apoE polymorphism.

[Sarcoidosis in children with digestive manifestations]. / Sarcoïdose de l'enfant à révélation digestive.

BACKGROUND: Gastric involvement is the least rare among digestive localizations of sarcoidosis, as well in adults as in children. When it is to be seen at the beginning of the disease, it may cause difficulties in the diagnostic, especially with Crohn's disease. CASE REPORT: Gastric ulcers were detected in a 12 year-old girl, of African origin, who complained about epigastric pain. Eighteen months later, diarrhea, poor growing, uveitis and inflammatory biological signs led to a probable diagnostic of Crohn's disease. Endoscopy seemed to confirm this diagnostic with granulomatous lesions on gastric biopsies. The absence of radiological anomalies of the digestive tract and the poor efficiency of the medical treatment led to question this diagnosis and to assert that of sarcoidosis. CONCLUSIONS: This case allows to emphasize the rare involvement of the digestive tract in sarcoidosis and the aspects common both to Crohn's disease and sarcoidosis.

[Neurectodermal malignant tumor of the soft tissues after treatment with immunosuppressive agents of lipoid nephrosis]. / Tumeur maligne neurectodermique des parties molles après traitement par immunosuppresseurs d'une néphrose lipoïdique.

Immunosuppressive drugs are known to increase the risk of inducing neoplasia, especially acute leukaemia when high doses are used. A case of nephrosis in a 10 year-old boy treated with chlormethine (cumulative dose: 0.8 mg/kg) and chlorambucil (cumulative dose: 10 mg/kg) is reported. Four years after the beginning of the treatment an extraskeletal Ewing's sarcoma occurred. Since the review of literature failed to find any malignancy induced by such an immunosuppressive treatment for nephrosis, the question whether or not this extraskeletal Ewing's sarcoma was attributable to this treatment remains unanswered.