Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

Acute flaccid myelitis (AFM) is an acute paralysis syndrome defined by a specific inflammation of the anterior horn cells of the spinal cord. From 2014, worrying waves of life-threatening AFM consecutive to enterovirus infection (EV-D68 and EV-A71) have been reported. We describe 10 children displaying an AFM with an EV infection, the treatments performed and the 1 to 3-years follow-up. Two groups of patients were distinguished: 6 children ("polio-like group") had severe motor disability whereas 4 other children ("brainstem group") displayed severe brainstem weakness requiring ventilation support. Electrodiagnostic studies (n = 8) support the presence of a motor neuronopathy associated to myelitis. The best prognosis factor seems to be the motor recovery after the first 4 weeks of the disease.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

OBJECTIVE: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management. METHODS: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed. RESULTS: We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce. CONCLUSIONS: The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning.

Le diagnostic de l'hyperactivité de l'enfant.

THE DIAGNOSIS OF HYPERACTIVITY DISORDER IN CHILDREN: Hyperactivity disorder in children is the most commonly found syndrome in paedo-psychiatric clinics. Children's professionals need to have clinical data on the subject. The diagnostic process includes several components which allow care to be tailored to each child.

[Epidemiology of acute upper and lower respiratory tract infections in children]. / Epidémiologie des infections virales aiguës des voies respiratoires hautes et basses l'enfant.

More than 200 antigenically distinct viruses have been documented as causes of sporadic or epidemic respiratory infections in infants and children. The lung itself is rarely sampled directly, and sputum representing lower-airway secretions can rarely be obtained from children. In addition culture of secretions from upper respiratory tract is not useful since the normal flora includes the bacteria commonly responsible for pneumonia. Clinical and radiology data only suggest the diagnosis. The development of techniques to detect antigens of the causative agent in nasopharyngeal secretions, nucleic acid by means of the polymerise-chain reaction assays has significantly improved the identification of the responsible pathogen and the choice of appropriate treatment. Since more 30 years rhinovirus, coronavirus, enterovirus, parainfluenza virus and respiratory syncytial virus were added to influenza, adenovirus and measles virus as causes of respiratory tract infections. This list of pathogens was extended last years with the discovery of human metapneumovirus, bocavirus, polyomavirus. In restricted patient groups, such as the immunocompromised, members of the family of herpesvirus have also been associated with respiratory disease.

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

Activating mutations in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (KATP) channel is a cause of neonatal diabetes associated with various neurological disorders that include developmental delay, epilepsy, and neonatal diabetes (known together as DEND syndrome). This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed DEND syndrome with a heterozygous activating mutation in Kir6.2. Infantile spasms with hypsarrhythmia on the electroencephalogram were severe and refractory to steroids. Steroids combined with oral sulfonylurea, a drug that closes the ATP-sensitive potassium channel by an independent mechanism, allowed partial and transitory control of the epilepsy. However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed.