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A comprehensive Mediterranean data set has been used to address 3 questions associated with the use of sensitivity/ tolerance based biotic indices to infer the Ecological Quality status (EcoQs) of benthic habitats. Our results showed: (1) a significant effect of the reference database on derived sensitivity/tolerance measure (ES500.05) as well as associated Benthic Quality Index values and derived EcoQs; (2) a lack of correlation neither between BQI and AZTIMarine Biotic Index values nor between BQI andMultivariate-AZTIMarine Biotic Index values; (3) a lack of correlation between the values of the Benthic Habitat Quality Index (index derived fromSediment Profile Imagery) and those of either of the 3 tested biotic indices; and (4) a general agreement between the 3 tested biotic indices in describing the lack of global trend for the EcoQs of the Gulf of Lions despite the occurrence of significant changes in benthic macrofauna composition between 1998 and 2010. [ABSTRACT FROM AUTHOR]

The Mediterranean Sea water bodies are ones of the most polluted, especially with microplastics. As the seafloor is the ultimate sink for litter, it is considered a hotspot for microplastic pollution. We provide an original analytical development based on the coupling of tandem mass spectrometry to pyrolysis-gas chromatography to improve the detection of plastic contamination in marine organisms. Due to the high selectivity of the mass spectrometer, a straightforward sample preparation consists uniquely of potassium hydroxide digestion. The quantification of six common polymers is possible in one run. The method was applied to analyze the plastic content from 500 μm down to 0.7 μm in the whole body of seven benthic species with variable feeding modes. Plastic was detected in all samples, with an almost systematic detection of polypropylene and polyethylene. Our method presents a major development in determining the levels of plastic contaminations in samples with rich organic matter content. [Display omitted] • Quantification of microplastics in marine organisms down to 0.7 µm by pyrolysis-gas chromatography–tandem mass spectrometry. • A one-step sample preparation consisting of chemical digestion was utilized. • Six distinct polymer contents were determined in one run. • The total polymer contents varied greatly from one organism to the other and was between 105 and 7780 μg/g dw. • The PE, PET and PS polymers were detected the most often. [ABSTRACT FROM AUTHOR]

Two biotic indices, ATZI Marine Biotic Index (AMBI) and Benthic Quality Index (BQI) have been recently introduced within the EC Water Framework Directive to assess the quality of marine habitats: both are based on sensitivity/tolerance classification and quantitative information on the composition of soft-bottom macrofauna. Their performance, especially with regard to sampling effort was assessed based on two data sets collected in Southern Baltic and one from the Gulf of Lions Mediterranean. AMBI was not affected by sampling effort but BQI was. Two modifications were proposed for BQI (i.e., BQI) (1) the removal of the scaling term (i.e., BQIW), and (2) the replacement of the scaling term by different scaling term (i.e., BQIES). Both modified BQIs were largely independent of sampling effort. Variability was slightly lower for BQIW than for BQIES. BQI was highly correlated with BQIW and with BQIES both in the Southern Baltic and in the Gulf of Lions. However, the proportions of stations, which were not attributed the same ecological quality status (EcoQ) when using BQI and its two modified forms were always high. Differences in ecological classification were mostly due to the scales used to infer EcoQ. Based on this study we recommend to use BQIES in future studies because it apparently constitutes the best compromise in (1) being independent of sampling effort, (2) limiting the variability in computation in relation with sampling effort, (3) being correlated with BQI and corresponding EcoQ. [Copyright &y& Elsevier]

Crigler–Najjar (CN) syndrome is a congenital inborn error of hepatic bilirubin metabolism caused by the deficiency of bilirubin uridinediphosphate glucuronosyltransferase activity. The 2 types of CN can be distinguished based on their response to phenobarbital treatment. CN type I patients have profound unconjugated hyperbilirubinemia that does not respond to phenobarbital; they are at permanent risk for life-threatening bilirubin encephalopathy. Treatment of CN-1 disease relies on daily prolonged phototherapy (10–12 h/day). We report on a pregnancy in a CN-1 mother treated with intensive phototherapy and semimonthly albumin infusions. The mother gave birth to a healthy baby. Intensive management of pregnancy in CN-1 patients may result in a successful pregnancy. [Copyright &y& Elsevier]

Abstract: The ecological quality of the Gulf of Lions coast was assessed using three biotic indices (H′, AMBI and BQI). The three indices correlated positively. The positive correlation between AMBI and BQI was surprising and was mostly due to the fact that the dominant species Ditrupa arietina featured a low ES500.05 but was classified in GI by AMBI. Both H′ and BQI were efficient in distinguishing impacted from un-impacted sites but AMBI was not. Differences between H′ and BQI were mainly due to the scale used to translate indices in terms of EcoQ. The three indices were able to detect the major changes in macrofauna composition, which occurred in the Bay of Banyuls-sur-Mer during the last 40years. However, the interpretations of such changes in terms of EcoQ differed between indices. These results are discussed relative to the characteristics of the tested indices. [Copyright &y& Elsevier]

Introduction Glycogen storage disease type III (GSD III) is an autosomal recessive disease, due to deficiency of glycogen debranching enzyme (GDE), a key enzyme involved in glycogen degradation. Hypertrophic cardiomyopathy is a classical complication in this disease. Objectives We performed a longitudinal study in order to describe the natural history of heart involvement, relationship with genotype and to determine long term follow up related to hypertrophic cardiomyopathy in patients with GSD III. Method We included all consecutive patients with GSD III followed in Pitié-Salpêtrière and Antoine Beclere centers and collected clinical, genetic, electrocardiogram and echocardiography data and cardiac events. Result 37 patients were included in this study (12 males/25 females). Mean age was 22.4 years [1–52]. All patients were in sinus rhythm expect one patient (atrial fibrillation). Electrical left ventricular hypertrophy was found in 16 (43%) patients. Symptomatic heart failure was found in 8 (22%) patients and 1 (3%) patient disclosed left ventricular dysfunction. Left ventricular hypertrophy (LVH) was found in 16 (43%) patients, mostly symmetric and 4 (11%) patients disclosed obstructive hypertrophic cardiomyopathy. Patients essentially developed heart failure with preserved LVEF (HFpEF) which prevalence increased with age. In univariate analysis, nonsense mutations were associated with more LVH than other type of mutations but not in multivariate analysis. Conclusion Hypertrophic cardiomyopathy is frequent in patients with GSD3 and is associated with cardiac clinical events, especially HFpEF. [ABSTRACT FROM AUTHOR]

Background & Aims Hepatocellular adenomas (HCAs) are benign liver tumors that can be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A, activating mutations in β-catenin, or activation of inflammatory signaling pathways. We aimed to update the classification system for HCA and associate the subtypes with disease risk factors and complications. Methods We analyzed expression levels of 20 genes and sequenced exon regions of 8 genes ( HNF1A, IL6ST, CTNNB1, FRK, STAT3, GNAS, JAK1 , and TERT ) in 607 samples of 533 HCAs from 411 patients, collected from 28 centers mainly in France from 2000 and 2014. We performed gene expression profile, RNA sequence, whole-exome and genome sequence, and immunohistochemical analyses of select samples. Molecular data were associated with risk factors, histopathology, bleeding, and malignant transformation. Results Symptomatic bleeding occurred in 14% of the patients (85% of cases were female, median age, 38 years); 7% of the nodules were borderline between HCA and hepatocellular carcinoma, and 3% of patients developed hepatocellular carcinoma from HCA. Based on molecular features, we classified HCA into 8 subgroups. One new subgroup, composed of previously unclassified HCA, represented 4% of HCAs overall and was associated with obesity and bleeding. These tumors were characterized by activation of sonic hedgehog signaling, due to focal deletions that fuse the promoter of INHBE with GLI1 . Analysis of genetic heterogeneity among multiple HCAs, from different patients, revealed a molecular subtype field effect; multiple tumors had different mutations that deregulated similar pathways. Specific molecular subtypes of HCA associated with various HCA risk factors, including imbalances in estrogen or androgen hormones. Specific molecular subgroup of HCA with β-catenin and sonic hedgehog activation associated with malignant transformation and bleeding, respectively. Conclusions Using sequencing and gene expression analyses, we identified a subgroup of HCA characterized by fusion of the INHBE and GLI1 genes and activation of sonic hedgehog pathway. Molecular subtypes of HCAs associated with different patients’ risk factors for HCA, disease progression, and pathology features of tumors. This classification system might be used to select treatment strategies for patients with HCA. [ABSTRACT FROM AUTHOR]

Glycogen storage disease type III (GSD III) is an autosomal recessive disease, due to deficiency of glycogen debranching enzyme (GDE), a key enzyme involved in glycogen degradation. Clinical presentation includes hepatomegaly, myopathy, hypoglycemia and cardiomyopathy. The cardiac natural history of patients with GSD III and its relationship with genetic abnormalities is not well known. We performed a longitudinal study in order to describe the natural history of heart involvement in patients with glycogen GSD III. 47 patients were included our study (16 male/31 female). Mean age was 25.7 years ±15.4. All patients were in sinus rhythm expect one patient (atrial fibrillation). 9 patients/ 47 disclosed abnormal repolarization. Electrical left ventricular hypertrophy was found in 22 patients /47. Heart failure was found in 10 patients/47 and 2 patients/47 disclosed a left ventricular dysfunction. Hypertrophic cardiomyopathy was found in 23 patients /47; and 4 patients/47 disclosed obstructive hypertrophic cardiomyopathy. Patients with hypertrophic cardiomyopathy depicted 2 codon-stops (p 0.03). In conclusion, hypertrophic cardiomyopathy is frequent in patients with GSD III. [ABSTRACT FROM AUTHOR]

Background & Aims: Crigler–Najjar type 1 (CN-I) is an inherited liver disease caused by an absence of bilirubin–uridine 5′-diphosphate–glucuronosyltransferase (UGT1A1) activity. It results in life-threatening levels of unconjugated bilirubin, and therapeutic options are limited. We used adult Gunn rats (an animal model of the disease) to evaluate the efficiency of lentiviral-based gene therapy to express UGT1A1 in liver. Methods: Gunn rats were given intraportal injections of VSVG-pseudotyped lentiviral vectors that encode UGT1A1 under the control of a liver-specific transthyretin promoter (mTTR.hUGT1A1); this vector does not contain target sequences for miR-142, a microRNA that is expressed specifically in hematopoietic cells. Rats were also injected with the vector mTTR.hUGT1A1.142T, which contains 4 copies of the miR-142 target sequences; its messenger RNA should be degraded in antigen-presenting cells. Bilirubinemia was monitored, and the presence of transduced hepatocytes was analyzed by quantitative polymerase chain reaction. Vector expression was tested in vitro in rat hematopoietic cells. Results: In Gunn rats, bilirubin levels normalized 2 weeks after administration of mTTR.hUGT1A1. However, hyperbilirubinemia resumed 8 weeks after vector administration, concomitant with the induction of an immune response. In contrast, in rats injected with mTTR-UGT1A1.142T, bilirubin levels normalized for up to 6 months and transduced cells were not eliminated. Conclusions: Lentiviral vectors that express UGT1A1 reduce hyperbilirubinemia in immunocompetent Gunn rats for at least 6 months. The immune response against virally expressed UGT1A1 can be circumvented by inclusion of miR-142 target sequences, which reduce vector expression in antigen-presenting cells. This lentiviral-based gene therapy approach might be developed to treat patients with CN-I. [Copyright &y& Elsevier]

The French registry for glycogen storage disease type 3 was established in 2014, with the aim of prospectively and nationally collecting epidemiological, genetic, muscular, cardiac, and metabolic data from patients. 72 patients were included (43F/29M). The mean age at molecular diagnosis was 16 years [0-60], and the mean age at registry inclusion was 23 years [4-65]. 60 patients underwent muscular evaluation, with an initial assessment on average at 26 years. Among patients under 18 years old (n=21), the mean Motor Function Measure (MFM) scores were: D1 93.62% [66.67-100], D2 98.94% [83.33-100], D3 95.92% [85.71-100], Total 96.12% [83.33-100]. The mean time to climb 4 steps was 2.03 s [1.31-3.21], run 10 meters was 3.62 s [2.95-4.75], and the 6-minute walk test was 505m [350-700]. 3 patients had walking difficulties. Mean CK levels was 1403 [34-4163]. Among patients aged 18 years and older (n=39), the mean MFM scores were: D1 74.35% [2.56-100], D2 92.66% [50-100], D3 95.73% [66.67-100], Total 84.98% [32-100]. The mean time to climb 4 steps was 3.64 s [1.56-18.34], run 10 meters was 9.16 s [2.66-102], and the 6-minute walk test was 467m [50-677]. 21 patients had walking difficulties. Mean CK level was 2569 [52-12056]. 29 patients developed left ventricular hypertrophy on echocardiography, 31 on ECG, and 29 patients had cardiac repolarization disorders. For a rare disease like glycogen storage disease type 3, the existence of registries is essential. We demonstrate here that muscular involvement worsens with age, and cardiac involvement is often present, albeit moderate. [ABSTRACT FROM AUTHOR]

Résumé Le purpura rhumatoïde est une vascularite immunologique fréquente chez l’enfant. L’hémophilie A est une maladie génétique récessive liée à l’X associée à un déficit en facteur VIII, responsable d’un syndrome hémorragique dont la gravité est fonction de la sévérité du déficit. Nous rapportons le cas d’un enfant de 4 ans vu au service d’accueil des urgences pour un purpura rhumatoïde typique mais associé à un allongement du temps de céphaline activée (TCA) dont l’exploration a permis de mettre en évidence une hémophilie A mineure. La découverte fortuite d’un allongement du TCA sans lien avec le purpura rhumatoïde peut représenter une comorbidité. Dans cette situation une exploration doit être faite dans deux directions : recherche, d’une part, d’un anticoagulant circulant de nature antiphospholipidique sans risque hémorragique, fréquent dans un contexte inflammatoire ; recherche, d’autre part, d’un déficit de l’un des facteurs de la voie endogène de la coagulation ou du von Willebrand Factor (VWF) associé à un risque hémorragique. Summary Henoch-Schönlein purpura is a common form of immunological vasculitis in children. Hemophilia A is a genetic disorder, inherited in a X-linked recessive pattern, and characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII deficiency. The clinical signs depend on the severity of factor VIII deficiency. We herein report the case of a 4-year-old boy admitted to the emergency room for typical rheumatoid purpura, associated with a lengthening of aPTT, whose exploration had uncovered mild hemophilia A. Laboratory assays should explore lengthening of aPTT: firstly the presence of lupus anticoagulant without bleeding risk, in an inflammatory context; secondly a deficiency of VWF and one of the factors involved in the extrinsic coagulation pathway associated with bleeding risk. [ABSTRACT FROM AUTHOR]

Summary: This article updates the respiratory physiotherapy technique used in France, and the rationale for its use. This paper reports the results of a recent randomized clinical trial that did not show any efficiency of respiratory physiotherapy (using increased expiratory acceleration) in infants hospitalized for a first episode of bronchiolitis. Further trials are necessary for evaluating this technique in infants who are not hospitalized. [Copyright &y& Elsevier]

Abstract: In France, annual influenza vaccination is recommended and free of charge for children with chronic disease (chronic lung, heart or kidney disease, diabetes, haemoglobinopathy, immune deficiency). The national goal is to reach 75% influenza vaccination coverage by 2008, but data on coverage in high risk children are limited. Objectives: To estimate the influenza vaccination coverage in children with an underlying chronic health condition in the Paris region, during in- or out-patient visit at hospital. Methods: A multicentre cross-sectional descriptive study was carried out over 2 months before the 2004-2005 flu vaccination campaign in 7 French paediatric hospitals (Paris region). Inclusion criteria for this survey were: children aged 6 months to 18 years, with an underlying chronic disease requiring annual influenza vaccination, with a vaccination card available, so as to check their vaccination status. Reasons for non vaccination were recorded. Results: Data from 239 children were analysed. 56% of patients were males (mean age: 8.1 years). Two patients had 2 separate underlying chronic disorders; 69% had a haemoglobinopathy, 16.3% had a chronic respiratory disease, and 7.5% had diabetes. The influenza vaccination rate for 2003-2004 was 43.7% (haemoglobinopathy: 55.5%; chronic respiratory diseases: 12.8%). This rate increased from 20.4% to 43.7% between 1999 and 2003. Less than 16% of parents remembered having received a voucher for free vaccination from the National Health Insurance Agency. Conclusion: Efforts are still needed to achieve the 2008 objectives of 75% coverage. [Copyright &y& Elsevier]

Abstract: Aim. – To identify predictive factors of the presence of a serious bacterial infection (SBI) in febrile infants less than three months old. Methods. – Retrospective analysis of the medical files of 315 consecutive consultations of febrile infants less than three months old in the pediatric emergency department of a French hospital, with logistic regression multivariate analysis of the different criteria routinely considered and C-reactive protein (CRP). Results. – SBI were diagnosed in 79 (25.1%) infants, primarily urinary tract infections (71; 22.5%). One of these 79 children had pneumococcal meningitis but met the classical criteria for low risk of SBI: he died because antibiotics were not prescribed sufficiently early. Factors significantly associated with SBI were: male sex; temperature >38.5 °C and lasting >24 hours; poor general condition; absence of ear, nose and throat symptoms; high white blood cell count with >50% neutrophils; and serum CRP concentration >20 mg/l. Multivariate analysis entering all these items retained only the latter two (respectively, OR: 13.5, 95% CI: [6.5–28.2] and OR: 2.9; 95% CI: [1.3–6.3]). CRP <20 mg/l and <50% neutrophils had a negative-predictive value of 93.1% for the absence of SBI. Conclusions. – At present, no factor(s) is(are) able to predict with 100% accuracy the absence of SBI in febrile infants less than three months old. The risk of severe sequelae or death caused by untreated SBI would seem to justify the prescription of antibiotics until microbacterial culture results become available. [Copyright &y& Elsevier]

Nous rapportons le cas d’un enfant né à 29SA présentant à J29 un choc septique avec méningite purulente à streptocoque du groupe B (SGB) sérotype III avec clone hypervirulent Séquence Type 17 compliquée d’un état de mal convulsif. Apparaissent rapidement des lésions cérébrales avec ventriculite puis une hydrocéphalie symptomatique : pose d’une dérivation ventriculo-péritonéale avec occlusion nécessitant une reprise chirurgicale. Le retour à domicile aura lieu à J91. Le SGB est une des 2 causes majeures de sepsis néonatal dont 30–40% de méningites notamment par le ST17 (75% des infections tardives et 81% des méningites en France et le sérotype I (13%), et le IV aux USA. L’antibioprophylaxie per partum a permis de diminuer le taux d’infection précoce, à l’instar de l’ E.coli , mais celui des infections tardives est constant (1,4‰ des naissances prématurées, 0,24‰ à terme) avec des formes moins sévères. Les voies de contamination sont l’infection par le lait de mère surtout en présence d’une mastite (culture négative pour notre cas) avec récurrences possibles et la transmission horizontale par porteurs sains (famille, soignants). Les mesures préventives des récidives (arrêt allaitement, pasteurisation) sont discutées devant le taux de morbi-mortalité élevé (62% et 14%). [ABSTRACT FROM AUTHOR]

Nous rapportons 2 complications graves dues aux antagonistes de l’angiotensine II (agtII : sartans). Le 1 er cas est une enfant née à 33SA pour RCIU et anamnios avec vessie non visualisée. L’adaptation à la vie extra utérine est médiocre avec détresse respiratoire sévère, HTAP, anurie et hypotension. L’interrogatoire retrouve une prise d’olmesartan arrêté à 29 SA. L’évolution, de part l’arrêt précoce, sera favorable avec cependant une insuffisance rénale chronique modérée. Le 2ème cas est une enfant estimée à 36 SA, RCIU, née en anamnios post déni de grossesse, avec traitement pendant toute celle-ci par valsartan. Elle présente une séquence de Potter avec anurie et hypoxie par hypoplasies rénale et pulmonaire avec décès à J1. La prise aux 2 et 3ème trimestres de sartan entraîne fœtopathies sévères avec insuffisance rénale par dysgénésie tubulaire, défaut d’ossification du crâne et hypoplasie pulmonaire (létalité supérieure à 50%). Il s’agit d’un antagoniste spécifique de l’agtll (système rénine-angiotensine-aldostérone) actif sur le récepteur AT1 (protection contre inflammation, fibrose, apoptose), inhibant son effet vasoconstricteur, hypertenseur et natriurétique. Ce traitement contre-indiqué pendant la grossesse reste trop souvent prescrit chez des femmes en âge de procréer. [ABSTRACT FROM AUTHOR]

L’évaluation du débit cardiaque en néonatologie est complexe et les procédures classiques sont risquées. La velocimetrie électrique (VE) est un système non invasif mais peu de données existent chez le nouveau-né. Ce travail compare les valeurs du volume d’éjection (SV) mesuré par VE et echographie cardiaque chez les enfants hospitalisées en réanimation néonatale par des mesures répétées de VE avant et après echographie par le même opérateur. 32 enfants sont inclus permettant 53 mesures avec un âge gestationnel (AG) et un poids moyens de 29 SA et 1265g. Les corrélations de Pearson et analyses de Bland Altman sur la cohorte retrouvent r= 0,499 (p<0.001) et une erreur moyenne de −1.29 ml (95%CI: −4 ml-+1.5 ml). Cette corrélation disparait en cas de canal artériel persistant (r= 0.292; p= 0.131). Elle n’est pas influencée par l’AG (coefficient corrélation partielle r=0.499; p<0.001). Le coefficient de variation est de 50% pour la VE et de 35% pour l’échographie. Il n’y a pas de différence entre les mesures de SV avant et après echographie à 10 minutes d’intervalles (3.43±SD vs 3.36±SD;p=0.13, Wilcoxon). La VEest facile, rapide et reproductible. Elle peut être une aide précieuse à l’évaluation hémodynamique néonatale notamment chez le prématuré, surtout en absence de canal artériel. [ABSTRACT FROM AUTHOR]

Nous rapportons le cas d’un nouveau-né à terme présentant à H2: purpura, céphalhématome, hématome dos et palais sans autre signe, thrombopénie à 8000/mm3. Les causes infectieuses éliminées, il reçoit 1 cure d’immunoglobulines (Ig), 3 culots plaquettaires sans efficacité, puis 2 culots HPA (Human Platelet Antigen) 1a négatifs montant le taux à 155000/mm3. Un phénotype maternel HPA-1a négatif et un cross match positif avec le père diagnostiquent un allô antiHPA-1a (anti-Pla1) circulant. Il recevra plusieurs transfusions avant disparition des anticorps. Les thrombopenies allo-immunes signent la destruction des plaquettes fœtales dès la 1ère grossesse par des allo-anticorps maternels (IgG transmises au foetus dès 14SA) ciblant des antigènes plaquettaires fœtaux absents chez elle. Le titrage d’anticorps plaquettaires par MAIPA (Monoclonal Antibody Immobilisation of Platelet Antigen) et le génotypage HPA familial signent l’allo-immunisation, cause la plus fréquente de thrombopénie néonatale dont 80% des cas sont dus à HPA-1a. Le traitement est basé sur les transfusions de donneurs génotypes et les Ig parfois associées aux corticoïdes. Un suivi spécialisé des grossesses suivantes est nécessaire. Des thérapeutiques d’inhibition des anticorps par déglycogénisation sont prometteuses. [ABSTRACT FROM AUTHOR]

La vélocimétrie électrique (VE) est une nouvelle technique non invasive de monitorage hémodynamique. Il n’existe pas de données pour le moment chez les nouveau-nés au décours de procédures respiratoires comme l’extubation ou la kinésithérapie respiratoire. Le but de ce travail est de savoir si elles entrainent des modifications hémodynamiques. Pour cela dans notre population des nouveau-nés prématurés on recueille le volume d’éjection (SV), débit cardiaque (DC), l’index de contractilité (ICON) et la fréquence cardiaque (FC) avec la VE avant, après et à 5, 10, 15, 30 et 60 minutes de l’extubation ou de manœuvres d’accélération du flux expiratoire (AFE). 11 (AFE) et 13 (extubation) enfants sont inclus avec un âge gestationnel et un poids moyen de 29 SA et 1313g. Aucune différence entre les valeurs mesurées n’a été relevée au décours des procédures d’AFE et d’extubation quel que soit le paramètre (p=0.318 pour SV; p=0.559 DC; p=0.23 ICON; p=0.78 FC, tests de Friedman). Aucune différence n’est relevée en analysant séparément les 2 groupes. Aucune modification hémodynamique n’est relevée dans notre cohorte de prématurés. Ces résultats préliminaires méritent d’être approfondis notamment par mesure spécifique du débit cérébral par NIRS. [ABSTRACT FROM AUTHOR]

Nous rapportons une galactosémie congénitale chez des jumeaux issus d’une grossesse bi choriale bi amniotique. L’accouchement a lieu à 36 S.A. par voie basse avec poids de naissance normaux. C’est un allaitement maternel. À la maternité les pédiatres constatent dès les premiers jours une perte de poids, malgré un allaitement qui se passe bien, un ictère franc dès le deuxième jour persistant. Sont notés une discrète hépatomégalie et un aspect de « bébé bronze » lors de leur hospitalisation au 7e jour. Il n’y pas d’hémolyse ni d’incompatibilité. Le bilan infectieux est négatif. Il existe une insuffisance hépatocellulaire avec un TP à 12 %, un ictère avec bilirubine totale supérieure à 400 μmol/l à majorité libre. Le diagnostic de galactosémie est posé et confirmé par le spot-test très positif. Il n’y a pas de cataracte congénitale. L’amélioration sera progressive avec arrêt immédiat du lait maternel, et mise sous lait sans lactose. J2 va présenter un tableau septique sans germe, son frère une infection urinaire à E Coli résistant.La galactosémie est une maladie métabolique rare (1/35000) se manifestant habituellement vers 2 semaines de vie. Ici il s’agit de jumeaux issus d’une grossesse bi choriale bi amniotique avec symptômes précoces et ictère très intense favorisé par la prématurité. [ABSTRACT FROM AUTHOR]