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To compare key seizure and outcome characteristics between neonates with and without cardiopulmonary disease. The Neonatal Seizure Registry is a multicenter, prospectively acquired cohort of neonates with clinical or electroencephalographic (EEG)-confirmed seizures. Cardiopulmonary disease was defined as congenital heart disease, congenital diaphragmatic hernia, and exposure to extracorporeal membrane oxygenation. We assessed continuous EEG monitoring strategy, seizure characteristics, seizure management, and outcomes for neonates with and without cardiopulmonary disease. We evaluated 83 neonates with cardiopulmonary disease and 271 neonates without cardiopulmonary disease. Neonates with cardiopulmonary disease were more likely to have EEG-only seizures (40% vs 21%, P < .001) and experience their first seizure later than those without cardiopulmonary disease (174 vs 21 hours of age, P < .001), but they had similar seizure exposure (many-recurrent electrographic seizures 39% vs 43%, P = .27). Phenobarbital was the primary initial antiseizure medication for both groups (90%), and both groups had similarly high rates of incomplete response to initial antiseizure medication administration (66% vs 68%, P = .75). Neonates with cardiopulmonary disease were discharged from the hospital later (hazard ratio 0.34, 95% CI 0.25-0.45, P < .001), although rates of in-hospital mortality were similar between the groups (hazard ratio 1.13, 95% CI 0.66-1.94, P = .64). Neonates with and without cardiopulmonary disease had a similarly high seizure exposure, but neonates with cardiopulmonary disease were more likely to experience EEG-only seizures and had seizure onset later in the clinical course. Phenobarbital was the most common seizure treatment, but seizures were often refractory to initial antiseizure medication. These data support guidelines recommending continuous EEG in neonates with cardiopulmonary disease and indicate a need for optimized therapeutic strategies.

Seasonal epidemics of influenza and the respiratory syncytial virus (RSV) are the cause of substantial morbidity and mortality among children. During the global coronavirus disease 2019 (COVID-19) pandemic, the epidemiology of these viruses seems to have changed dramatically. In Australia and New Zealand, a significant decrease in both influenza and bronchiolitis have been noticed during usual peak seasons. Data from early months of winter seasons in Europe are showing similar trends. This current scenario imposes a reconsideration of the paradigm that toddlers and young schoolchildren are the main drivers of seasonal RSV outbreaks and respiratory epidemics in general. In this article, we summarize current literature, address current knowledge or role of adults in the RSV epidemiology, describe the lessons learned from pertussis epidemics and call the international community to better understand the community transmission dynamics of respiratory infections in all age groups. This can allow the establishment of better and more affordable preventive measures in the whole population level, which can ultimately save millions of child lives.

Inflammatory myofibroblastic tumors (IMT) are rare, intermediate malignant tumors harboring frequent somatic molecular rearrangements. The management of IMT has not been standardized. A retrospective multicenter study was conducted on all pediatric patients treated for IMT between 2000 and 2019. This series included 39 cases of IMT, with a median age at diagnosis of 7 years (range 20 days to 16 years). Tumor location included pelvis-abdomen (n = 16), thorax (n = 14), head and neck (n = 7), and limbs (n = 2). One patient had metastatic disease. Immunochemistry showed 21/39 (54%) anaplastic lymphoma kinase (ALK)-positive tumors. Somatic tyrosine kinase rearrangement was present in 31/36 (86%) of the tumors analyzed: 21 ALK, five ROS1, and five NTRK. Immediate surgery was performed in 24 patients (62%), with adjuvant therapy for three patients. Delayed surgery after neoadjuvant therapy was possible in 10 cases. Exclusive systemic therapy was delivered to four patients; one patient with orbital IMT was managed by watchful waiting. After a median follow-up of 33 months (range 5-124), eight (20%) recurrences/progressions occurred after surgery (seven after primary surgery and one after delayed surgery), after a median interval of 7 months (range 2-21), all in thoracic locations. The 3-year overall and disease-free survivals were 96.8% (95% CI: 79.2%-94.0%) and 77.4% (95% CI: 59.6%-88.1%), respectively. Relapses/progressions were more common in patients with a thoracic primary (p < .001) or after incomplete surgery with no adjuvant therapy (p = .027). Surgery is effective in most cases of pediatric IMT. Systematic analysis of tyrosine kinase rearrangement is recommended. When the tumor is deemed only partially resectable to preserve organs and function, neoadjuvant therapy may be proposed to allow adequate conservative surgery.

Although seizures in neonates are common and often due to acute brain injury, 10-15% are unprovoked from congenital brain malformations. A better understanding of the risk of neonatal-onset epilepsy by the type of brain malformation is essential for counseling and monitoring. In this retrospective cohort study, we evaluated 132 neonates with congenital brain malformations and their risk of neonatal-onset epilepsy. Malformations were classified into one of five categories based on imaging patterns on prenatal or postnatal imaging. Infants were monitored with continuous video EEG (cEEG) for encephalopathy and paroxysmal events in addition to abnormal neuroimaging. Seventy-four of 132 (56%) neonates underwent EEG monitoring, and 18 of 132 (14%) were diagnosed with neonatal-onset epilepsy. The highest prevalence of epilepsy was in neonates with disorders of neuronal migration/organization (9/34, 26%; 95% confidence interval [CI] = 13-44%), followed by disorders of early prosencephalic development (6/38, 16%; 95% CI = 6-31%), complex total brain malformations (2/16, 13%; 95% CI = 2-38%), and disorders of midbrain/hindbrain malformations (1/30, 3%; 95% CI = 0-17%). Of neonates with epilepsy, 5 of 18 (28%) had only electrographic seizures, 13 of 18 (72%) required treatment with two or more antiseizure medicines (ASMs), and 7 of 18 (39%) died within the neonatal period. Our results demonstrate that disorders of neuronal migration/organization represent the highest-risk group for early-onset epilepsy. Seizures are frequently electrographic only, require treatment with multiple ASMs, and portend a high mortality rate. These results support American Clinical Neurophysiology Society recommendations for EEG monitoring during the neonatal period for infants with congenital brain malformations.

Pathogenic variants in the genes encoding for the ASC1 complex were recently reported in patients with congenital fractures, joint contractures, neonatal hypotonia and respiratory distress. Here we report two male children with biallelic TRIP4 pathogenic loss of function variants. The first child presented with foetal bradykinesia, neonatal respiratory distress, central and peripheral hypotonia, constipation, hyperlaxity, left uretero-hydronephrosis and post-obstructive kidney dysplasia. The second had severe central and peripheral neonatal hypotonia, feeding difficulties, kyphosis, developmental delay and hyperlaxity. Detailed review of all reported cases with ASCC1 (12 patients) and TRIP4 (18 patients) variants highlights striking genotype-phenotype correlations. This is the fourth report of patients with TRIP4 variants and the first description of post-obstructive kidney dysplasia in this condition.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.

Although most invasive meningococcal disease (IMD) cases are sporadic without identified transmission links, outbreaks can occur. We report three cases caused by meningococcus B (MenB) at a Belgian nursery school over 9 months. The first two cases of IMD occurred in spring and summer 2018 in healthy children (aged 3-5 years) attending the same classroom. Chemoprophylaxis was given to close contacts of both cases following regional guidelines. The third case, a healthy child of similar age in the same class as a sibling of one case, developed disease in late 2018. Microbiological analyses revealed MenB with identical finetype clonal complex 269 for Case 1 and 3 (unavailable for Case 2). Antimicrobial susceptibility testing revealed no antibiotic resistance. Following Case 3, after multidisciplinary discussion, chemoprophylaxis and 4CMenB (Bexsero) vaccination were offered to close contacts. In the 12-month follow-up of Case 3, no additional cases were reported by the school. IMD outbreaks are difficult to manage and generate public anxiety, particularly in the case of an ongoing cluster, despite contact tracing and management. This outbreak resulted in the addition of MenB vaccination to close contacts in Wallonian regional guidelines, highlighting the potential need and added value of vaccination in outbreak management.

Oropharyngeal dysphagia is common in patients with neuromuscular diseases (NMDs). Its early recognition is vital for proper management. We tested a large cohort of adult NMD patients for oropharyngeal dysphagia using the Sydney Swallow Questionnaire (SSQ). We also looked for possible differences in characteristics of oropharyngeal dysphagia in various NMD groups and diseases. Finally, we compared results of this screening with those from their corresponding medical records for eventual "clinical history" of dysphagia. We asked patients to fill in the SSQ during follow-up outpatient visits at our neuromuscular reference center. A total score above the cutoff score of 118.5 out of 1700 was indicative of oropharyngeal dysphagia. Of the 304 adult patients assessed for eligibility, 201 NMD patients (96 women and 105 men, aged 49.0 ± 16.2 years) were included and tested in this study. Oropharyngeal dysphagia was detected in 45% of all the NMD patients when using the SSQ, whereas only 12% had a positive medical record for dysphagia. The median SSQ scores for patients with myotonic syndromes (including myotonic dystrophy type 1), with amyotrophic lateral sclerosis, and with facioscapulohumeral dystrophy were above the cutoff score. The SSQ scores obtained revealed distinct oropharyngeal dysphagia characteristics in the different NMD groups and diseases. The SSQ tests positively for oropharyngeal dysphagia in a higher proportion of NMD patients compared with their medical records. The distinct oropharyngeal dysphagia characteristics we revealed in different NMD groups and diseases may help to elaborate adapted clinical approaches in the management of oropharyngeal dysphagia.

Pediatric LT are at particular risk of HAT, and its management still constitutes a matter of debate. Our purpose was to study predisposing factors and outcome of HAT post-LT, including the impact of surgical revisions on survival and biliary complications. Among 882 primary pediatric LT performed between 1993 and 2015, 36 HAT were encountered (4.1%, 35 fully documented). Each HAT case was retrospectively paired with a LT recipient without HAT, according to diagnosis, age at LT, type of graft, and era. Five-year patient survivals were 77.0% versus 83.9% in HAT and non-HAT paired groups, respectively (P = .321). Corresponding graft survivals were 20.0% versus 80.5% (P < .001), and retransplantation rates 77.7% versus 10.7%, respectively (P < .001). One-year biliary complication-free survivals were 16.6% versus 83.8% in the HAT and non-HAT groups, respectively (P < .001). Regarding chronology of surgical re-exploration, only HAT cases that occurred within 14 days post-LT were re-operated, fourteen of them being explored within 7 days post-LT (revascularization rate: 6/14), versus two beyond 7 days (no revascularization). When revascularization was achieved, graft and biliary complication-free survival rates at 1 year were 33.3% and 22.2%, respectively, both rates being 0.0% in case of failure. The pejorative prognosis associated with HAT in terms of graft survival is confirmed, whereas patient survival could be preserved through retransplantation. Results suggest that HAT should be re-operated if occurring within 7 days post-LT, but not beyond.

DEAR EDITOR, The feasibility of testing multiple genes at once using Next Generation Sequencing, particularly Whole Exome Sequencing (WES), has expanded the phenotypic spectrum associated with many disease genes. Distinguishing atypical presentation from combined gene effects and incidental from causal findings can however be challenging, particularly when composite phenotypes are themselves extremely rare. [...]

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies.

Seizures are the most common neurological emergency in the neonatal period and in contrast to those in infancy and childhood, are often provoked seizures with an acute cause and may be electrographic-only. Hence, neonatal seizures may not fit easily into classification schemes for seizures and epilepsies primarily developed for older children and adults. A Neonatal Seizures Task Force was established by the International League Against Epilepsy (ILAE) to develop a modification of the 2017 ILAE Classification of Seizures and Epilepsies, relevant to neonates. The neonatal classification framework emphasizes the role of electroencephalography (EEG) in the diagnosis of seizures in the neonate and includes a classification of seizure types relevant to this age group. The seizure type is determined by the predominant clinical feature. Many neonatal seizures are electrographic-only with no evident clinical features; therefore, these are included in the proposed classification. Clinical events without an EEG correlate are not included. Because seizures in the neonatal period have been shown to have a focal onset, a division into focal and generalized is unnecessary. Seizures can have a motor (automatisms, clonic, epileptic spasms, myoclonic, tonic), non-motor (autonomic, behavior arrest), or sequential presentation. The classification allows the user to choose the level of detail when classifying seizures in this age group.

Le service de Néphrologie vous présente 3 innovations particulièrement marquantes de 2016. La première concerne la prise en charge de la polykystose rénale autosomique dominante, et notamment le tolvaptan, un médicament enregistré et remboursé, qui ralentit la progression de la maladie. Les 2 autres concernent d’une part les progrès dans le diagnostic des glomérulonéphrites extramembraneuses idiopathiques, en réalité souvent auto-immunes, et d’autre part l’espoir apporté par les programmes d’échanges de reins de donneurs vivants aux patients en attente de transplantation rénale.

Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported: to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural history of an 8-year-old boy with dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. The diagnosis was accomplished by SNP array investigation that led to the identification of a de novo 7.4Mb deletion of 2p23.2-p24.1. The present patient also developed a nonsyndromic auditory neuropathy. Since the deletion encompassed the OTOF gene, this haploinsufficiency suggests second allele sequencing as a possible cause (DFNB9). We describe the phenotype of the patient and review reports in patients with del 2p23 subsequent to the advent of the genomic era. At the time of identification of "new" micro- deletion and -duplication syndromes, the present report adds to the description of phenotype in patients with del(2)p(23.2;24.1) and the 2p23.2 region in particular. © 2014 Wiley Periodicals, Inc.

BACKGROUND: The low prevalence of childhood end-stage renal disease and the small centre sizes have been a barrier for clinical studies and the development of evidence-based guidelines for chronic renal replacement therapy (cRRT) in children. Few data exist on the quality of care for these patients and the applicability of existing guidelines. The aim of this study is to quantify variation in treatment policies and actually delivered care in nine centres that deliver cRRT for children. METHODS: We surveyed treatment policies in all nine centres in the Netherlands and Belgium and compared them with the actually provided therapies and with recommendations from available guidelines. Data on treatment policies were gathered by questionnaires; actually provided care and outcomes were registered prospectively from 2007 to 2010. RESULTS: Data on policies and actual patient care were obtained from all nine centres. We found relevant differences between centres in treatment policies on various topics, e.g. estimated glomerular filtration rate threshold as an indication for initiation of cRRT, preferred initial mode of cRRT, peritoneal dialysis catheter care, haemodialysis frequency and vascular access. Discrepancies were seen between stated treatment policies and actual performed therapies. For the majority of policies, no evidence-based guidelines are available. CONCLUSIONS:Health care disparities exist due to large and unwanted variation in treatment policies between hospitals providing cRRT for children. Delivered care does not live up to stated policies, for which clear and internationally accepted guidelines are lacking.

Immigrant children receive fewer pre-emptive and living donor transplantations compared to native children. After transplantation, immigrant children are at higher risk for acute rejection irrespective of the mode of transplantation.

BACKGROUND: In Belgium and the Netherlands, up to 40% of the children on dialysis are children with immigrant parents of non-Western European origin (non-Western). Concerns exist regarding whether these non-Western patients receive the same quality of care as children with parents of Western European origin (Western). We compared initial dialysis, post-initial treatment, and outcomes between non-Western and Western patients on dialysis. METHODS: All children <19 years old on chronic dialysis in the Netherlands and Belgium between September 2007 and May 2011 were included in the study. Non-Western patients were defined as children of whom one or both parents were born in non-Western countries. RESULTS: Seventy-nine of the 179 included patients (44%) were non-Western children. Compared to Western patients, non-Western patients more often were treated with hemodialysis (HD) instead of peritoneal dialysis (PD) as first dialysis mode (52 vs. 37%, p = 0.046). Before renal transplantation, non-Western patients were on dialysis for a median (range) of 30 (5-99) months, vs. 15 (0-66) months in Western patients (p = 0.007). Renal osteodystrophy was diagnosed in 34% of non-Western vs. 18% of Western patients (p = 0.028). The incidence rate ratio [95% confidence interval] for acute peritonitis was 2.44 [1.43-4.17] (p = 0.032) for non-Western compared to Western patients. CONCLUSIONS: There are important disparities between children on chronic dialysis with parents from Western European origin and those from non-Western European origin in the choice of modality, duration, and outcomes of dialysis therapy.

En dépit des progrès considérables qu'il a permis, l'actuel traitement symptomatique de la mucoviscidose est trop lourd, trop cher et reste parfois clairement inefficace. Même si n'en profiteront pleinement que les patients dont les poumons auront pu être largement préservés jusqu'alors, il est nécessaire de découvrir un traitement plus fondamental de la maladie pulmonaire. La voie la plus prometteuse est aujourd'hui celle d'une approche pharmacologique taillée sur mesure en fonction des mutations de chaque patient. Elle vise à remédier en partie à leurs conséquences sur la fonction de la protéine CFTR, déficiente dans cette affection. Ciblant au départ une mutation qui concerne moins de 0.5% des patients en Belgique, les deux premières études de l'Ivacaftor sortent du lot. L'intérêt de cette médication - isolément ou en combinaison avec d'autres molécules - s'étend maintenant vers d'autres mutations. La tolérance mais aussi l'efficacité à long terme de cette substance restent cependant à évaluer. Très élevé, son prix de vente actuel aux Etats-Unis pose question.

Malgré les progrès du traitement symptomatique, la mucoviscidose reste une maladie évolutive associée à une diminution de la durée de vie. La Belgique est l'un des rares pays où plus de la moitié de ceux qu'elle affecte sont aujourd'hui des adultes. La fertilité des patientes est presque normale. Le nombre de grossesses qu'elles mèneront ira croissant. Idéalement, leur prise en charge doit débuter bien avant la conception: recherche de mutations du gène chez le partenaire, conseil génétique, optimalisation de l'état de santé, information à jour et nuancée sur les risque encourus par la femme et le fœtus, revue détaillée des médications utilisées dont certaines peuvent être contre-indiquées chez la femme enceinte. Pour l'enfant, il existe un risque accru de prématurité et de faible poids de naissance. Un VEMS au départ inférieur à 50-60 % de la valeur prédite et un BMI inférieur à 20 restent associés à un risque maternel et fœtal distinctement plus élevé. Cependant bon nombre de telles patientes ont raisonnablement pu mener à bien leur projet. La vitesse de déclin du VEMS au cours des années précédentes est à prendre en compte. Globalement, il n'y a pas d'évidence qu'à moyen terme la grossesse en elle-même aggrave la maladie respiratoire mais c'est parfois le cas. Pour maintenir durant la grossesse le contrôle bactériologique et fonctionnel de l'atteinte pulmonaire, un bon état nutritionnel et une tolérance glucidique adéquate, une médicalisation accrue est le plus souvent nécessaire, y compris en termes d'hospitalisations. Un accouchement par voie basse est si possible privilégié. Le suivi optimal implique une collaboration étroite entre les intervenants d'un centre de référence pour la mucoviscidose et des obstétriciens familiers avec les grossesses à haut risque mais aussi avec les multiples complications spécifiques qui peuvent survenir chez ces patientes.

Le pronostic de la mucoviscidose est conditionné par l’atteinte pulmonaire. Trois types de facteurs l’influencent: des facteurs liés à la qualité de la prise en charge, des facteurs génétiques et des facteurs d’environnement. Les premiers sont les plus importants. Une prise en charge spécialisée précoce est nécessaire mais des différences considérables de résultats cliniques peuvent exister entre les centres. Mieux comprendre ces différences permettrait une amélioration globale du niveau des soins. Sous un autre angle, les implications pronostiques de ces différences sont telles que l’accès des patients et/ou parents à ces données est aujourd’hui considéré aux USA comme un droit. Couplé à une prise en charge optimale immédiate, un dépistage néonatal de la mucoviscidose devrait être prochainement mis en place en Belgique et contribuer encore à l’amélioration du pronostic. L’étape décisive espérée est la découverte d’un traitement plus fondamental de l’atteinte respiratoire. Une approche pharmacologique taillée sur mesure en fonction des mutations de chaque patient est la voie la plus prometteuse. En voie d’enregistrement aux USA, le composé VX-770 ne concernerait que quelques patients en Belgique mais pourrait bien constituer le premier traitement efficace de ce type. En attendant, le maintien de la solidarité dont ont besoin ces patients reste crucial.

Living healthy is all one wants, but the genetics behind creation of every human is different. As a curse or human agony, some are born with congenital defects in their menu of the genome. Just one has to live with that! The complexity of cystic fibrosis condition, which is rather a slow-killer, affects various organ systems of the human body complicating further with secondary infections. That's what makes the disease so puzzling for which scientists around the world are trying to understand better and to find a cure. Though they narrowed down to a single target gene, the tentacles of the disease reach many unknown corners of the human body. Decades of scientific research in the field of chronic illnesses like this one surely increased the level of life expectancy. This book is the compilation of interesting chapters contributed by eminent interdisciplinary scientists around the world trying to make the life of cystic fibrosis patients better.

Background : In the absence of treatment, 50% of HIV-infected children will die before 2 years of age. In a recent randomized controlled trial, a 76% decrease in mortality was observed in infants receiving early combination antiretroviral therapy [1]. The World Health Organization now recommends starting all HIV-infected infants on combination antiretroviral therapy on diagnosis [2]. However, few data are available outside a well-controlled research setting. Purpose of the study : To show the feasibility and effectiveness of treating HIV-infected infants in a state-funded clinic located in a poorly resourced South African township. Methods : A retrospective chart review was performed of all HIV-1 infected infants initiated on combination antiretroviral therapy (cART) between 1st May 2005 and 31st May 2008 at the Edendale Family Clinic, Pietermaritzburg, South Africa. All HIV-1 infected infants who were less than 1 year of age when antiretroviral therapy was initiated, and who had completed at least 6 months of treatment, were included. Weight for age Z scores, CD4 %, viral loads (VL) and haemoglobin were collected on initiation of treatment and at 6-monthly intervals thereafter. Virological success was defined as VL<25 copies/ml, immune recovery as CD4>25%. Z scores were analyzed using Epi-Info. Summary of results : Of 129 treated infants, 94 completed 6 months of cART; 60 completed 12 months and 39 completed 18 months of treatment. Mean age at initiation was 8 months (range 2.1-11.7). 77.2% had advanced disease (WHO Stage 3 or 4). The infants were severely malnourished, with a mean Z-score of -2.4 (range -6.1 - +0.8). Mean baseline VL was 4700 000 copies/ml. After 6 months of treatment, 52.3% of babies had an undetectable VL, with 75% having a VL of < 400 copies/ml. Viral suppression was achieved in 34 (56.9%) out of the 60 infants who completed 1 year of cART and 79.3% had a VL <400 copies/ml. Undetectable VL was found in 78.8% of the 39 children who received 18 m

Nous rapportons l’observation prospective de deux nourrissons âgés de moins d’un an ayant présenté une maladie de Kawasaki. A cet âge, la présentation clinique de cette maladie est très souvent incomplète ou atypique selon les critères et pose des difficultés diagnostiques pouvant entraîner un retard thérapeutique et un risque accru de complications. Lors du traitement de ces jeunes nourrissons une mauvaise réponse à la première dose d’immunoglobulines intraveineuses est très souvent observée. Les deux cas documentent ces difficultés et enrichissent la littérature par une description précise de l’apparition chronologique des symptômes chez ces jeunes enfants.

Background : Vertically HIV-1-infected infants are at high risk of severe manifestations of the disease in the first year of life [1]. For this reason, we have elected, since 1996, to treat all infants born to HIV-1-infected mothers with a combination of 3 reverse transcriptase inhibitors as soon as the diagnosis of vertical transmission is established. Material and methods : This is a cohort study of the effectiveness and tolerance of therapy in the 17 HIV-1-infected infants followed from birth in 3 belgian paediatric reference centres since 1996. All of them had been treated according to these guidelines. Results : Treatment was initiated in all patients before 66 days of life. All but one were asymptomatic at initiation of therapy. Median follow-up was 56 months (range: 26-103). Twelve out of the 17 patients (70.6%), including 11/13 (85%) infants treated with the combination of zidovudine, lamivudine and nevirapine, experienced a complete viral suppression (<50 copies/mL) with their first drug regimen. Lack of compliance was acknowledged by the parents of 3 of the 5 infants whose initial regimen failed. At last follow-up, 12 patients were asymptomatic, two were CDC stage A and three were stage B; 15 had HIV-1 RNA levels of < 50 copies/mL and 14 had ≥25% CD4 lymphocytes. Among them 11 were still treated with their first line regimen (Figure 1). One child experienced a transient severe side effect, another child had clinical lipodystrophy and 4 developed hypercholesterolemia. Conclusions : Early initiation of treatment with 3 reverse transcriptase inhibitors appeared to be highly effective in this cohort of vertically HIV-1 infected infants. Parental adherence is crucial to the effectiveness of therapy.

In children under 5 years, most lower respiratory tract infections are caused by viruses and do not require antibiotics. This is true for almost all episodes of bronchitis and bronchiolitis but also for the majority of pneumonias. Atypical pneumonias due to Mycoplasma pneumoniae or Chlamydia pneumoniae predominate in older children while Streptococcus pneumoniae remains by far the most common cause of bacterial pneumonia. Diagnosis of pneumonia itself can be difficult and relies on a combination of clinical judgement and radiological and laboratory investigations. In real-life situations, etiologic agents are rarely identified, an issue further complicated by the possibility of mixed infections particularly in hospitalised children. Since viruses are often the sole cause of pneumonia in childhood, it is appropriate not to treat every child with antibiotics. However, when a bacterial origin can not be excluded, antibiotics efficient on Streptococcus pneumoniae are to be prescribed. Amoxicillin is the first choice empirical antibiotic treatment, having a higher efficacy on poorly sensitive pneumococcus than cephalosporins. Macrolides are indicated for the treatment of atypical pneumonia. Current immunisation strategies have decreased the number of bacterial pneumonias. However, there is some evidence that among hospitalised children the rate of complicated pneumonias is increasing with an emerging role of Streptococcus pneumoniae serotype 1, which is not covered in the 7-valent vaccine.

[Assessing Adolescent's Health in School Medicine: Quality of Life as a Complement to Clinical Indicators] Current medical practices of school health for adolescents are more based on the screening of specific physical problems than on psychosocial and subjective aspects of their health. OBJECTIVES: This study aimed at evaluating the usefulness of a quality of life (QoL) questionnaire during the consultations. POPULATION AND METHODS: Ninety-five adolescents (mean age: 16.9 years) present for the obligatory medical check-up in a health center in Brussels, were involved in the study. Data of the medical records were analysed and two questionnaires were administrated, one exploring the quality of life (VSP-A), the other the presence of depressive symptoms (CES-D). RESULTS: These adolescents were in good physical health and had a mean score of global quality of life of 62 (DS =11.2); 17% of the adolescents had significant depressive symptoms (score > or =24). There was a significant negative correlation between the scores of QoL and depression (R =-0.680, P <0.01), the QoL psychological dimension and depression (R =-0.656, P <0.01), the QoL energy-vitality dimension and depression (R= -0.763, P <0.01). CONCLUSION: An evaluation of the quality of life, approaching the mental health of the teenagers in a multidimensional and positive way, can be useful in school medicine for better identifying the medical and psychosocial adolescents needs. It can improve the relevance of the preventive consultation and the interventions of health promotion in schools.

Background. For hepatoblastoma (HB) that remains unresectable by partial hepatectomy after chemotherapy, total hepatectomy with orthotopic liver transplantation (LTX) has been advocated as the best treatment option. The role of LTX in the overall management of HB is still, however, unclear. Procedure. The results of LTX from the first study of HB by the International Society of Pediatric Oncology, SIOPEL-1, were analyzed. In addition, the world experience of LTX for HB was extensively reviewed. Twelve patients in the SIOPEL-1 study underwent a LTX. Median (range) follow-up at Dec. 31, 2001 was 117 months (52-125) since LTX. Results. Overall survival at 10 years post-LTX was 85% for the seven children who received a "primary LTX" and 40% for the 5 children who underwent a "rescue LTX" after previous partial hepatectomy. In the world experience (147 cases), the overall survival rate at 6 year post-LTX was 82% for 106 patients who received a "primary LTX" and 30% for 41 patients who underwent a "rescue LTX." Multivariate analysis of patients undergoing primary LTX showed that only macroscopic venous invasion had a significant impact (P-value: 0.045 with a hazard ratio of 2.96) on overall survival. Conclusions. Orthotopic LTX has added a new dimension to the treatment of HB unresectable by partial hepatectomy. Because of the rarity of the disease and to optimize results, children with extensive HB should be treated in centers with surgical expertise in pediatric major liver resection and LTX, in close collaboration with pediatric oncologists, radiologists, and histopathologists. © 2003 Wiley-Liss, Inc.

Modalities of and prospects for fostering children suffering from a chronic health condition (HIV in particular) in the institutions of the French community of Belgium

Progressive familial intrahepatic cholestasis (PFIC) is a lethal inherited childhood cholestasis of hepatocellular origin. Different subtypes of PFIC have been described according to serum gamma-glutamyl transpeptidase (GGT) activity. There is currently no effective medical therapy available for children with PFIC. We report on 39 patients with PFIC who received ursodeoxycholic acid (UDCA) orally (20-30 mg/kg b.w./day) for a period of 2 to 4 years. Group 1 (n = 26) consisted of children with normal GGT activity, and group 2 (n = 13) of children with high GGT activity. Within group 1, liver tests normalized in 11 children, improved in 5, and stabilized or worsened in 10. Within group 2, liver tests normalized in six children, improved in four, and stabilized or worsened in three. Improvement of parameters was associated with an enrichment of the circulating pool of bile acids with UDCA. Hepatosplenomegaly and pruritus disappeared or diminished in children in whom liver tests normalized. In nine of these children, liver tests worsened and normalized again after stopping and restarting UDCA. Liver histology assessed in four children after normalization of liver tests and 2 years of treatment showed a decrease in fibrosis. We conclude that UDCA should be considered in the initial therapeutic management of children with PFIC, because it appears effective in resolving or improving the liver function and the clinical status of a fair proportion of children. Chronic UDCA therapy might thus avoid the need for liver transplantation in some children with PFIC.

The aim of the present study was to evaluate the behavioral and affective characteristics and the changes in psychosocial functioning resulting from precocious puberty in 15 girls with central precocious puberty treated for 2 y using the GnRH agonist long-acting triptorelin, and in 5 untreated girls. After diagnosis of precocious puberty at 6.6-10.4 y of age, height, weight and pubertal development were evaluated at 3-month intervals over 2 y. Semi-structured interviews were carried out with the patient, the parents and the pediatric endocrinologists at 1, 8, 16 and 24 months after diagnosis. Standardized questionnaires (Child Behavior Checklist, Self-esteem Inventory) were administered at 1 and 24 months or 16 and 24 months, respectively. There was a mean 1.5-y delay between the observation of signs of puberty as reported by the parents and the diagnosis of precocious puberty at the first consultation of a pediatric endocrinologist. Before follow-up, all 20 girls were very concerned about physical differences from peers, particularly breast development. During therapy, breast regression to minimal or absent development occurred in 5/15 treated patients, who then no longer felt embarrassed about pubertal development in contrast to the other patients. Fear of sexuality remained obvious throughout the study in most patients. Feelings of loneliness and exemplary behavior were observed and tended to decrease in the treated patients and to increase in the untreated patients. Elevated scores of withdrawal, anxiety/depression and somatic complaints at Child Behavior Checklist were still observed after 2 y. These changes in behavioral and affective characteristics appeared to be related neither to height and weight, nor to development of pubic hair, which progressed in most patients. After 2 y, the physical differences remained a concern for 13 girls and the risk of short adult stature for 6. In summary, some behavioral and affective characteristics and particularities in p

Kingella kingae, formerly known as Moraxella kingae, is a fastidious, non-motile, coccobacillary, fermentative Gram-negative rod that has been chiefly associated with two types of infections in man: Bone and joint infections, and endocarditis. We describe four patients with K. kingae infections, one with septicaemia, two with endocarditis, and one with osteoarthritis. The current literature on infections with K. kingae is reviewed.