[Role of procalcitonin in the diagnosis of early neonatal infection]. / Apport de la procalcitonine dans le diagnostic de l'infection bactérienne maternofœtale précoce.

OBJECTIVE: To limit the regulation of antibiotherapy in neonatal early infections by improving the tracking and the diagnosis of infected newborns. PATIENTS AND METHOD: First part: analysis of procalcitonin (PCT) in the cord. Method of tracking: 87 cases. Cut-off PCT=0.5 ng/mL. Measurement of CRP at 24 h if PCT>0.5 ng/mL. Second part: analysis of the PCT between 4 h and 6 h in the event of infectious risk; 47 cases over 6 months. Cut-off PCT=2 ng/mL. Measurement of CRP at 12 h and/or 24 h. RESULTS: In 2012, there were 10 antibiotherapies prescribed per 1000 births versus 30/1000 in 2011. A reduction in two thirds of the indications was seen. CONCLUSION: Markers of inflammation, i.e., the PCT (good specificity and good negative predictive value from 0 to 6 h of life) and CRP (good sensitivity and good positive predictive value from 12 to 24 of life) should be combined in time.

[Glucose transporter type 1 (GLUT-1) deficiency]. / Le syndrome de déficit en transporteur du glucose de type 1 (GLUT-1).

Impaired glucose transport across the blood brain barrier results in glucose transporter type 1 (GLUT-1) deficiency syndrome, first described in 1991. It is characterized by infantile seizures refractory to anticonvulsive treatments, microcephaly, delays in mental and motor development, spasticity, ataxia, dysarthria and other paroxysmal neurologic phenomena, often occurring prior to meals. Affected infants are normal at birth following an uneventful pregnancy and delivery. Seizures usually begin between the age of one and four months and can be preceded by apneic episodes or abnormal eyes movements. Patients with atypical presentations such as mental retardation and intermittent ataxia without seizures, or movement disorders characterized by choreoathetosis and dystonia, have also been described. Glucose is the principal fuel source for the brain and GLUT-1 is the only vehicle by which glucose enters the brain. In case of GLUT-1 deficiency, the risk of clinical manifestations is increased in infancy and childhood, when the brain glucose demand is maximal. The hallmark of the disease is a low glucose concentration in the cerebrospinal fluid in a presence of normoglycemia (cerebrospinal fluid/blood glucose ratio less than 0.4). The GLUT-1 defect can be confirmed by molecular analysis of the SCL2A1 gene or in erythrocytes by glucose uptake studies and GLUT-1 immunoreactivity. Several heterozygous mutations, with a majority of de novo mutations, resulting in GLUT-1 haploinsufficiency, have been described. Cases with an autosomal dominant transmission have been established and adults can exhibit symptoms of this deficiency. Ketogenic diet is an effective treatment of epileptic manifestations as ketone bodies serve as an alternative fuel for the developing brain. However, this diet is not effective on cognitive impairment and other treatments are being evaluated. The physiopathology of this disorder is partially unclear and its understanding could explain the clinical heterogeneity of GLUT-1 deficiency patients and lead to new treatments. This probably under-diagnosed deficiency should be suspected in children with unexplained neurological disorders including epilepsy, mental retardation and movement disorders and confirmed by a lumbar puncture and the direct sequencing of GLUT-1.

[GLUT-1 deficiency syndrome or De Vivo disease: a case report]. / Le syndrome de déficit en GLUT-1 ou maladie de De Vivo: à propos d'un cas.

GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency syndrome. Ketogenic diet is an effective treatment of epileptic manifestations but it has less effect on the cognitive symptoms. We report on a child who presented with paroxistical events often occurring prior to meals, developmental delay, microcephaly and spasticity. CSF and serum glucose levels measured simultaneously showed a CSF/serum glucose ratio of 0.39. Molecular analysis identified a heterozygous novel mutation.

[Epileptic seizures in childhood: from seizure type to diagnosis]. / Convulsions et épilepsie de l'enfant: de la crise au diagnostic.

Epileptic seizures can be difficult to recognize in infancy and childhood because the semeiology can be misleading. Already, in the acute phase, precise assessment of the seizure is required, with active questioning about circumstances of occurrence, clinical manifestations and postictal symptoms. Laboratory tests and toxicologic screening should only be performed according to the circumstances and clinical examination in order to distinguish between symptomatic seizure and epilepsy at the beginning. Epilepsy consists in repetition of several unprovoked epileptic seizure. Assessment of the age of onset, type of seizures, interictal EEG and the neuropsychological profile are instrumental for both the diagnosis of epileptic syndrome and the choice of the right treatment. Epileptic seizures cause distress to parents and the fear they experience of death must always be taken into account.