[Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia]. / Diagnostic post-natal d'un volvulus gastrique révélant une hernie diaphragmatique congénitale.

Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment.

[Goiter: a rare cause of childhood dyspnea]. / Le goitre: une cause rare de dyspnée de l'enfant.

We report the case of a patient who presented dyspnea due to a large intrathoracic goiter. This patient had congenital hypothyroidism due to thyroid enzyme deficiency. He came to a pediatric emergency department for dyspnea. At home, he had inspiratory and expiratory dyspnea with a stridor. No signs of respiratory distress were observed. The neck was deformed by a large goiter. The patient indicated that he did not follow the recommended L-thyroxine treatment. Chest and neck radiography showed tracheal compression. A cervical CT scan showed a 60% reduction of the tracheal caliber. To our knowledge, only one case report of goiter with tracheal compression due to congenital hypothyroidism has been reported in the literature. In the case of retrosternal goiter, dyspnea is more common than respiratory distress. Absence of tachypnea or use of accessory muscles does not exclude an anatomic compression. In the case of dyspnea, the search for a goiter is recommended.

[Neonatal exposure to active pulmonary tuberculosis in a maternity ward: screening and clinical course of a cohort of exposed infants]. / Contage tuberculeux néonatal en maternité : dépistage et évolution d'une cohorte de nourrissons exposés.

UNLABELLED: Few data are available on the impact of a tuberculosis exposure on newborns in a maternity ward. OBJECTIVES: To describe the screening and clinical course of infants exposed during the neonatal period to a caregiver with bacillary tuberculosis. PATIENTS AND METHODS: Infants exposed during the postnatal period in a maternity unit in Paris, from March to August 2005, to a caregiver with bacillary tuberculosis were included in a standardized screening protocol. The screening performed at baseline (M0) and at 3 months (M3) included a clinical evaluation, a tuberculin skin test (TST), and a chest X-ray. A preventive treatment for tuberculosis with isoniazid and rifampicin for 3 months was systematically proposed. RESULTS: At M0, 182 of the 217 infants (84%) with significant exposure were evaluated. Data were available for 172 infants. The median age at M0 was 4.9 months (IQR=3.8-6.2). At M0, 4 of 172 infants (2.3%) had latent TB infection. Between M0 and M3, 19 infants (11%) were lost to follow-up and 1 on 153 developed a latent TB infection. No cases of tuberculosis disease were diagnosed. The treatment was administered properly in 83% of cases and side effects were observed in 11% of infants without any serious adverse event. Four infants received no treatment and 11 stopped their treatment prematurely. CONCLUSION: In the absence of neonatal massive exposure, although low (2.9%), the risk of latent TB infection requires close monitoring of the infants exposed. However, in the context of a mild exposure in the maternity unit, surveillance without systematic initiation of TB preventive treatment could be discussed.

[Clinical features and outcome of 2009 H1N1 influenza in the pediatric setting. Multicenter prospective study in the ED]. / Présentation clinique et évolution d'une population pédiatrique atteinte de la grippe A (H1N1)v. Enquête multicentrique prospective aux urgences pédiatriques.

STUDY OBJECTIVE: The clinical manifestations and outcome of infants and children with confirmed 2009 H1N1 influenza in emergency departments is described. METHODS: We conducted a prospective multicenter case series involving children with symptoms of influenza-like illness in whom 2009 H1N1 influenza was diagnosed on reverse-transcriptase polymerase chain reaction assay on a nasopharyngeal swab or nasal aspirates and who were admitted to the ED of four university pediatric hospitals. The following data were collected: age, gender, preexisting chronic conditions (PECs) associated with a high risk for influenza-related complications, clinical symptoms, outcome, antiviral treatment, and complications. We recorded length of cough and fever during a phone-call on day 8. RESULTS: Between 1st October and 31st December 2009, 466 children were included. Their median age was 4 years (range, 1 day to 17 years). The median time to consultation was 24h. Of these 466 infants and children, 55 were aged less than three months and 153 had one or more PECs. Asthma was the most frequent condition. Children at risk and children without risk did not differ for complications (28% vs 31%, P>0.05). Respiratory complications (17%) and decompensations of preexisting disease were the most frequent. Infants aged less than three months did not have more complications than infants without PECs. At-risk infants and children were more frequently hospitalized (P<0.02) and the duration of the pediatric ward stay was longer (P<0.02). This was true only for children aged less than three months. Of the hospitalized children, 17 (9%) were admitted to an ICU. Duration of fever (3.8 days) and duration of cough (6.3 days) did not differ according to whether or not children received oseltamivir. CONCLUSION: Infants younger than three months of age are not a group at risk for influenza-related complications. Oseltamivir did not reduce duration of symptoms in this population.

[Neurological complications revealing infectious endocarditis: 2 case reports]. / Complications neurologiques révélatrices d'une endocardite infectieuse : à propos de 2 cas.

Neurological signs are reported in less than 20% of infectious endocarditis (IE) cases. The most frequent complications include cerebral infarction, intracerebral hemorrhage, meningitis, and mycotic aneurysm. We describe two patients, one with congenital heart disease and the other with normal heart, who presented neurological manifestations and fever leading to an IE diagnosis. Neurological complications may be the first symptom of infectious endocarditis and are a major factor associated with increased morbidity and mortality. Early diagnosis and early treatment will minimize cardiac and neurological morbidities.

Delay in diagnosis of imported Plasmodium falciparum malaria in children.

The study reported here prospectively evaluated the time-to-diagnosis of imported Plasmodium falciparum malaria in children in seven French pediatric emergency departments during a 1-week period. For the 29 patients included, the mean patient, doctor and total delays were 3.1, 1.5 and 4.7 days, respectively. The late medical diagnosis for 11 patients was mainly due to the treating physician's failure to consider malaria, despite having been informed that the child had been in an endemic area, and erroneously making a diagnosis of viral infection. The five patients who were diagnosed correctly without delay had higher mean platelet counts than the others (206,000 vs 118,541/mm(3); p=0.008). The results indicate that greater awareness of the risk of malaria in returning travelers may help reduce delays in diagnosis and its consequences.

[Spectacular neurologic manifestations after mild head trauma: retrospective study on 51 children]. / Manifestations neurologiques spectaculaires après traumatisme crânien bénin: étude rétrospective de 51 enfants.

UNLABELLED: Mild head traumas, as a rule, remain a- or paucisymptomatic. In a few cases however, spectacular manifestations develop despite absence of intracerebral lesion. POPULATION, METHODS: We have studied retrospectively 51 such children and contacted their family in order to clarify the follow-up. RESULTS: The dominant symptoms allowed to categorize the following situations: syncope-like loss of consciousness (11 cases), seizures (6), severe headaches with neurologic signs (15), confusion (8), visual disorders (6), amnesic ictus (5). Recurrences were possible but benign: in 8/11 children in the group "syncopes", in 1/6 in the group "seizures", in 5/21 in the 4 other groups. In the latter 4 groups, 11/21 children developed common migraine. Except for the only case who developed epilepsy later on, scholarship was normal in the 25 cases with sufficient follow-up. DISCUSSION: Beside syncopes and seizures, the long-lasting episodes suggested a migrainous pathogeny, perhaps at a maturative stage where the trigger of migrainous mechanism is at a low level in the brain. CONCLUSION: The mildness of the knock, the normality of CT scan including when the symptoms are present and the normality of both consciousness and examination once the symptoms have disappeared allow to avoid further investigations.

[Treatment of exacerbation of asthma: what are today's issues?]. / Traitement de la crise d'asthme: où sont aujourd'hui les enjeux?

During past decades, major progress has been accomplished in the management of acute asthma. Most recent recommendations include evidence-based rationale. The improved quality of clinical guidelines makes them efficient models for medical education. The pediatric pharmacopoeia provides a great variety of choices of drugs as well as for asthma medical devices. These innovations dramatically facilitated the medical management of asthmatic children, but they did not solve all problems. Physicians now use higher doses of salbutamol, but the early prescription of systemic glucocorticoids for moderate exacerbation of asthma is still underused, given the most recent clinical guidelines and meta-analysis. Furthermore, repeated emergency department visits to the wards and lack of primary care physician should systematically be appraised when evaluating severity, as they are both major risk factors for severe exacerbations, even though they are not considered in acute asthma severity scores. Finally, initiating (or reinforcing) patient education at the time of exacerbation also presents important challenges, as emergency visits are a favorable moment to commence the therapeutic education of the child and his family. Indeed, framing the controller medications and educating families about how to manage the disease and to improve their domestic environment are the genuine tools available for the prevention of asthma exacerbations, and particularly those most severe.

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.

The family of two siblings with severe hereditary spherocytosis was investigated. The decrease was evident on both the alpha- and the beta-chains. The parents were haematologically normal. The mother was heterozygous for the low-expression polymorphic allele alphaLEPRA. The father was heterozygous for a novel combination in which one allele showed the alpha-spectrin low expression polymorphic allele alphaLELY, while his other allele showed the alphaLELY polymorphism in cis with a G-->A substitution, named Bicêtre, found at the extreme 3' end of exon 51. This combination was designated alpha(LELY-Bicêtre). The children were compound heterozygotes for alleles alphaLEPRA and alpha(LELY-Bicêtre). Reverse transcription polymerase chain reaction detected only trace amounts of the mRNA coding for alpha(LELY-Bicêtre). Mutation is therefore an essentially null mutation with no functional protein product. The lack of disease in the alphaLELY/(LELY-Bicêtre) father compared with the marked haemolysis in the alphaLEPRA/alpha(LELY-Bicêtre) children showed that expression of allele alphaLELY is not low enough to expose null alpha-spectrin alleles on the other chromosome. Quantitative estimations from these findings suggest that, to evoke spherocytosis, it is necessary that alpha-spectrin expression must be reduced to less than 25% of normal, while a reduction to 8% is sufficient.

[Severe autoimmune immunoglobulin A hemolytic anemia in a 10-month-old infant]. / Anémie hémolytique auto-immune sévère à immunoglobulines A chez un nourrisson de dix mois.

CASE REPORT: A ten-month-old boy presented with a severe auto-immune hemolytic anemia. Direct antiglobin test was positive only for IgA class autoantibodies. He recovered with a high dose corticosteroid treatment. CONCLUSION: IgA class autoantibodies should be searched for in the case of a high suspicion of auto-immune hemolytic anemia with negative direct antiglobin test for IgG and complement. Corticosteroid treatment is most often successful.

Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation.

The natural history of the rare association "multicystic encephalopathy-arthrogryposis" was traced in a fetus carefully followed after artificial insemination. The fetus exhibited normal viability and brain morphology up to the 32nd week. At 36 weeks, active movements diminished and at 37 weeks, hydramnios and signs of fetal distress led to cesarean section. The infant presented with severe arthrogryposis of the limbs and spine, but not with the other elements of a long-lasting akinesia. US showed multicystic encephalopathy. Both the clinical and the neuropathological findings established that multicystic encephalopathy was neither the cause nor the sequential consequence of the fetal akinesia, but the result of a recent diffuse, acute malacic process that also involved the anterior horn cells. Acute fetal distress, responsible for major ischemic damage to CNS but compatible with fetal survival, remains an obscure condition which allows for the development of severe arthrogryposis in a few weeks.