[GACI syndrome: a case report with a neonatal beginning]. / Le syndrome GACI : à propos d'une observation à début néonatal.

GACI (generalized arterial calcification of infancy) is a rare autosomal recessive disorder characterized by arterial and periarticular calcifications. Most children die in the first months of life of cardiovascular complications. Hypophosphatemic rickets (HR) resistant to medical treatment may complete the phenotype and is associated with a milder phenotype. This report discusses the case of a girl who presented neonatal ectopic periarticular calcifications with spontaneous regression, and then at the age of 3 years developed HR. There was no clinical improvement after treatment with calcitriol and phosphate, and correction of alkaline phosphatase induced the recurrence of periarticular and tissular calcifications : the treatment was reduced and the bone distortion treated by surgery. GACI diagnosis was confirmed by genetic analysis. At the age of 4.5 years, she developed a retinal abnormality and decreased radial pulse: these clinical signs are usually observed in pseudoxanthoma elasticum (PXE). It is now established that GACI and PXE belong to the same entity characterized by arterial and tissular calcifications of which this original case report is an illustration.

[Transplacental or breast milk intoxication to clonidine: a case of neonatal hypotonia and drowsiness]. / Intoxication transplacentaire ou par lait maternel à la clonidine : un cas de somnolence et d'hypotonie néonatale.

We report a case of clonidine poisoning in a breastfed newborn. At 2 days of life, this boy presented a consciousness deficit with drowsiness, hypotonia, and suspected generalized seizures. There were no cardiorespiratory problems outside of progressive central apneas beginning the 5th day. Further initial investigations were normal (extensive biological exams, cranial ultrasonography and transfontanellar Doppler, electroencephalography, and brain MRI study), excluding the main causes of neonatal hypotonia (encephalitis, infection, metabolic disorder). However, new medical questioning revealed maternal daily intake of 0.15 mg clonidine for hypertension during and after pregnancy. Since it was impossible to quantify clonidine quantification in newborn serum and breast milk, a weaning test was performed the 9th day. Twenty-four hours after cessation of breastfeeding, complete regression of symptoms was obtained. Poisoning by clonidine after fetal and neonatal exposure through breast milk is rare but severe enough to simulate a neurological disease. Diagnosis is based on the search for drug use and the cessation of breastfeeding if doubt persists. Recovery of normal examination results is then rapid and complete.

[Infectious complete atrioventricular block in children: 2 case reports]. / Blocs auriculoventriculaires complets d'origine infectieuse chez l'enfant: à propos de 2 observations.

We report 2 cases of children who developed a complete atrioventricular block following an infection, varicella without complication initially in the first case and Mycoplasma pneumoniae pneumopathy in the second case, in which a first-degree congenital heart block was diagnosed on this occasion. In case 1, the treatment consisted in oral corticosteroids leading to the recovery of sinus rhythm; the course was unfavorable in the second case and required a permanent pacemaker. This cardiac complication of bacterial or viral infection is rare in children but evolves to permanent conduction disturbance in 1/3 of the cases. It is important to detect this disorder, which is feasible simply by a clinical examination and an electrocardiogram.

[Computerized cardiotocography and short-term variation in management of obstetric cholestasis: a useful tool?]. / Intérêt de la variabilité à court terme dans la surveillance de la cholestase gravidique.

OBJECTIVE: To evaluate active management of obstetric cholestasis by comparing correlation between bile acid concentrations and computerized cardiotocography (Short-term variation [STV]). PATIENTS AND METHODS: Retrospective analytic study about 51 obstetric cholestasis between January 2001 and August 2009. Demographic characteristics, bile acid concentrations and STV data were recorded since diagnosis to pregnancy with evaluation of fetal outcome. RESULTS: There were no statistical correlation between bile acid concentrations, STV data and fetal outcome. Patients with cholestasis diagnosed in second trimester delivered 12 days earlier than cholestasis diagnosed in third trimester (p=0.0012). Delivery before 37 weeks was found in 37.2% of cases. There were no perinatal deaths. Sixty percent had a recurrent obstetric cholestasis. CONCLUSION: Further works are necessary to study the exact pathogeny of obstetric cholestasis in order to determinate the best surveillance.

[Primary cutaneous aspergillosis complicated with invasive aspergillosis in an extremely preterm infant: case report and literature review]. / Aspergillose cutanée secondairement invasive chez un nouveau-né prématurissime : cas clinique et revue de la littérature.

Aspergillus is a ubiquitous fungus that can cause primary cutaneous aspergillosis in extremely low-birth-weight (ELBW) neonates, then be invasive and lead to death. ELBW neonates are particularly at risk because of decreased qualitative immune defenses and defects in the skin barrier. Broad-spectrum antimicrobial therapy and corticosteroids, often used in these patients, contribute to increased risk. We present a fatal case of primary cutaneous aspergillosis complicated with invasive aspergillosis, confirmed by autopsy, in an ELBW infant. The source of contamination was probably non-sterile disposable latex gloves used for neonatal care. The early recognition of this source led to its eviction for other hospitalized ELBW infants and no outbreak was observed.

[Malignant pertussis: 3 case reports]. / La coqueluche maligne : à propos de 3 observations.

Three infants aged less than 2 months were hospitalized for malignant pertussis. Echocardiography showed pulmonary hypertension. High-frequency oscillations and nitric oxide were ineffective. Respiratory and hemodynamic conditions deteriorated secondarily. The third case received an exchange transfusion without success. All three infants died following multiorgan failure. Malignant pertussis is the leading cause of infectious death in infants less than 2 months of age, treatment is often ineffective, and prevention, targeting the population of young adults, is particularly important.

[Ventricular repolarisation disorders and long QT syndrome: clinical and genetic study in 10 paediatric cases]. / Troubles de la repolarisation ventriculaire et syndrome du QT long: étude clinique et génétique à propos de 10 cas pédiatriques.

We report 10 paediatric cases of ventricular repolarisation disorders and long QT syndrome, which differed in their mode of revelation, from asymptomatic forms to syncope events or heart arrest. Diagnosis is based on electrophysiological explorations and exhaustive genetic investigation. It allows a well-codified preventive and therapeutic action according to the genotype.

[Factor XIII deficiency in a newborn]. / Déficit en facteur XIII chez un nouveau-né.

Factor XIII deficiency is an uncommon inherited disorder which is characterized by umbilical cord bleeding and an unusually high incidence of intracranial hemorrhage. We report here a case of Factor XIII deficiency in a child that presented a caput. succedaneum as the first manifestation of the disease and then an umbilical cord bleeding. The importance of performing a quantitative FXIII assay in the presence of strong clinical suspicion is strengthened because of the normality of the standard screening tests and the important therapeutic consequences.

[Botulism in a neonate]. / Toxi-infection botulique chez un nouveau-né.

Botulism was suspected in a 17-day-old breastfed infant who developed over 2 days progressive muscular weakness and hypoventilation. The patient also presented with pupil dilation and light unresponsiveness. The electroencephalogram was normal. Full recovery was obtained after 85 days of artificial ventilation. Diagnosis was confirmed by the presence of the botulin toxin B in the patient serum. The source of the infection was not identified.

Immediate and short-term effects of pulmonary artery banding on left ventricular performance in foetal sheep.

AIM: To evaluate foetal left ventricular performance when its preload was increased by banding the pulmonary artery, a study design where a simultaneous change in left ventricular afterload is unlikely. METHODS: Nine ovine foetuses were studied with real-time images and Doppler echocardiography before, 3-4 and 6-8 d after surgery. Seven of these foetuses were also studied during the surgical intervention, immediately before and within 2 min after banding. RESULTS: The immediate effects of a 90-95% reduction of the pulmonary artery cross-sectional area were: a 53 +/- 20% (mean +/- SD) decrease and a 38 +/- 10% increase of right (RvQ) and left ventricular output (LvQ), respectively. Comparing measurements before and 3-4 d after operation, there was a 64 +/- 16% decrease of RvQ and a 64 +/- 25% increase of LvQ. The increase in LvQ was due to an increase in both heart rate (19 +/- 10%) and stroke volume (38 +/- 18%). After an additional 3-4 postoperative days, heart rate remained increased to the same extent, but there was a more pronounced increase of LvQ (93 +/- 19%) and stroke volume (59 +/- 22%). CONCLUSION: The parallel foetal circulation has a capacity to handle a severely increased afterload for the right ventricle by immediately improving and maintaining an increased left ventricular performance. This improvement was in part accomplished by an increase in stroke volume.

The procedures of hygiene to control hospital-acquired diarrhoea in paediatric wards: a multicentre audit.

An audit was carried out in paediatric wards to study the compliance of healthcare workers (HCWs) to the procedures recommended for the control of hospital-acquired diarrhoea. Thirty-two paediatric wards in the southeast of France participated on a voluntary basis in this prospective observational study after completing a self-administered questionnaire recording measures of hygiene. All the observations were made by the same investigator and focused on preventive procedures: use of single room, handwashing, hand disinfection, overclothing, single-use gloves and masks. Two hundred and seventy patient-HCW contacts were observed, including mainly diapering, temperature measurement, collection of blood sample and catheter care. The isolation of patients in a single room and use of gowns by HCWs were significantly associated with diarrhoea. Whereas handwashing before care was performed by HCWs in more than 95% of all the procedures, the compliance in the use of disposable gloves by HCWs was only of 39.4% for technical procedures (including those with potential exposure to blood) and 20.3% for diapering or temperature measurement. A substantial agreement between reported and observed measures of hygiene was observed for handwashing before contact and hand disinfection with antimicrobial soap before contact. In contrast, this agreement was moderate for use of single room, handwashing after contact, overclothing and wearing disposable gloves after a diaper change. Despite the excellent compliance of HCWs to handwashing, clearer recommendations for the indication and use of disinfectants and disposable gloves are urgently needed.

[Prospective follow-up of hospital-acquired diarrhoea in 28 paediatric wards of the south-east part of France during a winter season]. / Suivi prospectif des diarrhées nosocomiales dans 28 services de pédiatrie du quart Sud-Est de la France au cours d'un trimestre d'hiver.

The aim of this study was to evaluate the risk of hospital-acquired diarrhoea during an epidemic period through a prospective multicentre observational study. A systemic investigation of the hospital-acquired diarrhoea (occurring at least 48 h after hospital admission) was conducted through a standardised questionnaire from January to March 1999 in patients of 5 years old or less hospitalised in 28 wards (620 beds) belonging to 20 hospitals located in the south-east part of France. Overall, 241 cases of hospital-acquired diarrhoea were collected, corresponding to a prevalence of 3.3% (3.6% after exclusion of patients admitted for diarrhoea) and a density of incidence of 0.81 per 100 days of hospitalisation. The mean stay duration of hospital-infected patients was greater than 10 days, versus 3.9 days for the other children (P < 0.001). A readmission was required in 27% of the infected children. Rotavirus was involved in 97.8% of microbiologically documented cases (88%). In 50% of the cases, the hospital-acquired diarrhoea was seen in patients with bronchiolitis. Contact isolation measures were prescribed in 88.4% of the cases. These results stress that hospital-acquired diarrhoea represent an important medical and economic load for paediatric units and could be used as reference data to evaluate the impact of preventive measures, especially to reduce readmission and mean stay duration.

Birth prematurity determines prolonged autonomic nervous system immaturity.

Because of its multiple involvement in physiological processes, autonomic nervous system (ANS) activity, a key regulator of homeostatic control, demonstrates a progressive increase during pregnancy. The profile of its maturation, mainly in the parasympathetic arm, in premature or full term infants, may help us to better understand its pathophysiological role. We prospectively evaluated ANS maturity in a group of 23 premature (PREM) infants at their theoretical term age and in 8 full term (FT) newborns. All recordings were registered close to the theoretical full term period (from 38 to 41 weeks) for the PREM group and during the first week of life for the FT newborns. Polygraphic recordings, EEG monitoring associated with visual clinical control, and Holter ECG, were performed simultaneously. ANS indices were then calculated during quiet sleep periods, using Wavelet transform of RR (beat to beat) intervals. High frequency components were found to be significantly lower in the PREM than in the FT group (p<0.05). Furthermore, at theoretical full term age, the greater the prematurity, the lower was parasympathetic activity. Because it is easy, monitoring of parasympathetic activity may help us to understand autonomic maturation and its clinical prognostic implications.

[Varicella complicated with necrotizing fasciitis caused by group A hemolytic Streptococcus]. / Varicelle compliquée d'une fasciite nécrosante à streptocoque hémolytique du groupe A.

UNLABELLED: Chickenpox has a high risk of invasive group A streptococcal disease and necroziting fasciitis. CASE REPORT: A five-year-old girl, during chickenpox treated with ibuprofen, developed sepsis and edematous and necrotic lesions of the pelvis and the abdominal wall. The child improved with surgical treatment and adjunction of clindamycin to the antibiotic therapy. CONCLUSION: We review the optimal medical and surgical treatment of necrotizing fasciitis and discuss the role of chickenpox and non steroidal antiinflammatory agents in this disease.

Nosocomial colonization of premature babies with Klebsiella oxytoca: probable role of enteral feeding procedure in transmission and control of the outbreak with the use of gloves.

OBJECTIVE: To investigate the persistence of colonization of premature babies by Klebsiella oxytoca, with special emphasis on the mode of transmission of the bacterium and evaluation of Standard Precautions to stop the epidemic. DESIGN: Retrospective analysis of cases and prospective study of systematic bacteriological samples (stools and throat) from babies, healthcare workers (HCWs), and environment, with genotyping of strains by arbitrarily primed polymerase chain reaction. SETTING: A premature baby unit (PBU) and a neonatal intensive care unit in the university hospital of Saint-Etienne, France. RESULTS: An outbreak of K oxytoca was suspected in two pediatric wards after the occurrence of a fatal bacteremia in a newborn hospitalized in the PBU and the colonization of other babies 2 months later. Retrospective analysis showed that 24 babies' digestive tract had been colonized. No environmental reservoir was recovered in the units nor in enteral feeding. No K oxytoca was isolated from HCW samples. Genotyping confirmed the presence of epidemic strains, although independent clones were responsible for infections or colonizations in each of the two units. The chronology and the site of babies' colonization (isolation of K oxytoca in stools before throat) were determined during a prospective study and suggested that enteral feeding procedures could be the source of contamination. Therefore, use of gloves during this practice by HCWs was recommended and, after readjustment of Standard Precautions, stopped the outbreak. CONCLUSION: To prevent cross-contamination among high-risk babies, careful attention must be paid to Standard Precautions. Bacteriological surveillance of the digestive tract of neonates could help to check compliance with these guidelines

Generation of reactive O2 species in the myocardium of newborn lambs following intrauterine increase in right ventricular pressure.

Fetuses with pulmonary stenosis and constriction of the ductus arteriosus or the recipient twin in the context of a twin-to-twin transfusion syndrome may present with severe right ventricular myocardial dysfunction. Free O2 radicals are known to be increased in hypertrophied adult myocardium secondary to an increase in endocavitary pressure. This study investigates whether products of reactive O2 species generation are abnormally elevated in the myocardium of fetuses with increased right ventricular pressure. Banding of the main pulmonary artery was performed in five fetal lambs at 90 to 100 days of gestation. Three other animals had a sham intervention and were used as controls. Postoperative observation lasted on average 42 days (range 33-49 days). The levels of hydroperoxides were found to be significantly higher in the right ventricle of the stenosed lambs (6.6 +/- 3.5 nmol/mg protein) compared to the left ventricle of the same lambs (0.7 +/- 0.7 nmol/mg protein), and compared to the right (0.12 +/- 0.1 nmol/mg protein) and the left (0.5 +/- 0.8 nmol/mg protein) ventricles of the controls. It is concluded that during fetal life, an increase in right ventricular pressure is associated with a marked accumulation of products of reactive O2 species generation in the right ventricular myocardium.

[Intestinal volvulus in extremely premature infants]. / Volvulus du grêle et grande prématurité.

UNLABELLED: Volvulus with or without malrotation are infrequent in the extremely premature newborn. CASE REPORTS: Intestinal volvulus in seven premature newborns are reported with abdominal distention, bright and tense skin without visible bowel loops and spiraled bowel loops on the abdominal X-ray. Intestinal resection was avoided due to early diagnosis. We identified abdominal wall massages as a risk factor, because no new cases have occurred since interdiction of these practices. CONCLUSIONS: Symptoms and radiologic findings are relatively specific for excluding the diagnosis of necrotizing enterocolitis in premature newborns. Abdominal nursing could be the incriminating factor.