[Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases]. / Neuropathie héréditaire par hypersensibilité à la pression : à propos de 3 observations chez l'enfant.

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant neuropathy. It is characterized by recurrent sensory and motor nerve palsies, usually precipitated by minor trauma or compression. Even though rare in childhood, this disorder is probably underdiagnosed given its wide spectrum of clinical symptoms. We review three separate cases of HNPP diagnosed in children with various phenotypes: fluctuating and distal paresthesias disrupting learning at school, cramps related to intensive piano practice, and discrete muscle weakness with no functional complaint. Family history should be carefully reviewed to identify potential undiagnosed HNPP cases, as in our three reports. Electrophysiological study is essential for the diagnosis, with a double advantage: to confirm the presence of focal abnormalities in clinically symptomatic areas and to guide molecular biology by revealing an underlying demyelinating polyneuropathy. The diagnosis of HNPP is confirmed by genetic testing, which in 90% of cases shows a 1.5-Mb deletion of chromosome 17p11.2 including the PMP22 gene. Patients are expected to make a full recovery after each relapse. However, it is very important for both the patient and his or her family to establish a diagnosis in order to prevent recurrent palsy brought on by situations involving prolonged immobilizations leading to nerve compression.

[Polymorphic expression of epilepsy and cognitive impairment in ring chromosome 20 syndrome]. / Polymorphisme d'expression de l'atteinte épileptique et cognitive du syndrome du chromosome 20 en anneau.

Ring chromosome 20 syndrome combines epilepsy with varying levels of mental retardation, behavioral disorders, and malformations. Epilepsy is generally serious, with frequent drug resistance. The pathophysiology of seizures remains unclear. Rearrangements of two epilepsy genes, CHRNA4 and KCNQ2, have been raised as the cause. We report the observation of one child, with a telomeric deletion 20p13, with no epileptic symptoms. Preservation of CHRNA4 and KCNQ2 gene activity could explain this distinctive feature.

[What non invasive haemodynamic assessment in paediatric intensive care unit in 2009?]. / Quelle évaluation hémodynamique non invasive en réanimation pédiatrique en 2009 ?

The haemodynamic assessment of the patients is a daily activity in paediatric intensive care unit. It completes and is guided by the clinical examination. The will to develop the least invasive possible coverage of the patients is a constant concern. The haemodynamic monitoring, all the more if it is invasive, ceaselessly has to put in balance the profit and the risk of beginning this technique at a fragile patient. In the last three decades, numerous non-invasive haemodynamic tools were developed. The ideal one must be reliable, reproducible, with a time of fast, easily useful answer, with a total harmlessness, cheap and allowing a monitoring continues. Among all the existing tools (oesophageal Doppler ultrasound method, transthoracic echocardiography, NICO, thoracic impedancemetry, plethysmography, sublingual capnography), no one allies all these qualities. We can consider that the transthoracic echocardiography gets closer to most of these objectives. We shall blame it for its cost and for the fact that it is an intermittent monitoring but both in the diagnosis and in the survey, it has no equal among the non-invasive tools of haemodynamic assessment from part the quality and the quantity of the obtained information. The learning of the basic functions (contractility evaluation, cardiac output, cardiac and the vascular filling) useful for the start of a treatment is relatively well-to-do. We shall miss the absence of training in this tool in France in its paediatric and neonatal specificity within the university or interuniversity framework.

Efficiency of fractional anisotropy and apparent diffusion coefficient on diffusion tensor imaging in prognosis of neonates with hypoxic-ischemic encephalopathy: a methodologic prospective pilot study.

BACKGROUND AND PURPOSE: The DTI parameters (FA and ADC) reflect the properties of the brain microstructure. Decreased anisotropy is a common feature of cerebral tissue abnormalities. Our study investigates the neurologic prognostic efficiency of these parameters in white (PLIC, CP) and gray matter (PP) in the first days of life in term neonates with HIE. We hypothesize that lesions in related brain areas could be part of a physiopathologic substratum supporting neurologic deficiencies in this population. MATERIALS AND METHODS: A total of 22 neonates (13 girls and 9 boys; mean gestational age, 40 weeks +/- 9 days; birth weight, 3203 +/- 584 g) underwent brain MR imaging between day 1 and day 6 after birth; 6-noncollinear direction DTI was performed. FA and ADC were measured on specific brain areas. Amiel-Tison score was performed on day 8.5 +/- 4 (group A, favorable outcome [n = 16]; group B, unfavorable outcome [n = 6]). RESULTS: Intraobserver and interobserver comparison in DTI parameter measurements showed a coefficient of variability of less than 5%. In PLIC and PP, the ADC values were lower in group B compared with group A (P = .000027), whereas in PLIC and CP, the FA values were lower in group B compared with group A (P < .02). CONCLUSIONS: These findings indicate that a poor early neurologic outcome in neonates with HIE is associated with lower FA or ADC values in specific areas of white or gray matter. The difference in ADC/FA changes in the different brain areas explored may support possibly different pathologic processes.

[Management of childhood idiopathic thrombocytopenic purpura: a survey of members of the French Society of Pediatric Hematology and Immunology (SHIP)]. / La prise en charge du purpura thrombopénique idiopathique en phase initiale: enquête auprès des membres de la Société française d'hématologie et d'immunologie pédiatrique (SHIP).

AIM OF THE STUDY: The purpose of this study was to report in acute childhood idiopathic thrombocytopenic purpura (ITP) the current practices of French paediatric hematologists and to compare them to recent publications of American and British teams. METHOD: A questionnaire was sent online to the members of the French Society of Pediatric Hematology/Immunology (SHIP). This questionnaire, adapted from a similar american study conducted in 2001, asked 16 questions based on the clinical presentation of a 5-year-old boy referred for an acute ITP. RESULTS: 59/123 SHIP members responded to the survey. In response to question regarding initial treatment, 86% of physicians would be given active treatments and only 9% would rarely or never administer any drug. When asked which agent would be used in case of treatment, 68% would choose to prescribe intravenous immunoglobulins and 32% corticosteroids, nobody recommended the use of anti-D immunoglobulins. Furthermore, 83% would usually hospitalize such a child. CONCLUSION: Finally, this study allowed us to update the current French management of treating pediatric ITP which is almost comparable among this subset of pediatric hematologists, but showed some discrepancies comparatively to the American and British studies.

[Ondine's Curse and rare oculomotor abnormalities: a case report]. / Syndrome d'Ondine: à propos d'un cas oculomoteur original.

Ondine's Curse or congenital central hypoventilation syndrome (CCHS) is a neurocristopathy (failure of migration or differentiation of neural crest-derived precursor cells) and is characterized by hypoventilation or apnea, which is most pronounced during sleep, with no other abnormalities of the neuro-respiratory system. Because of respiratory distress soon after birth, patients must be intubated and ventilated for a long time. This disorder may be associated with other symptoms of neurocristopathy (Hirschsprung disease, neuroblastoma, neuroganglioma) and other abnormalities of the autonomic nervous system (vasomotor dysfunctions or ophthalmic abnormalities: abnormal pupils, insufficient convergence, strabismus, or ptosis). We report the original case of a CCHS patient who presented with alternative ptosis of both the right and left eyes and esotropia. The ocular findings should lead to earlier diagnosis and speedier adequate treatment.

[Secondary surfactant deficiencies in extremely low birth weight premature infants]. / Déficits secondaires en surfactant chez le grand prématuré

Primary deficiency of surfactant is responsible for the respiratory distress syndrome and concerns premature neonates born before 33 weeks of gestation. However, newborns may develop respiratory disorders related to a secondary deficiency or dysfunction of surfactant. We report the course of three extremely low birth weight premature infants who experienced clinical respiratory decompensation at two weeks and showed a marked improvement after exogenous natural surfactant administration.