Prades J.-M.,Laboratoire danatomie |
Elmaleh-Berges M.,Service dImagerie Pediatrique |
Chatard S.,Service dimagerie |
Veyret C.,Service dimagerie |
And 2 more authors.
Morphologie | Year: 2011
High-resolution computed tomography scanning (CT) allows depiction of microanatomic structures of the temporal bone. CT is useful for detecting several pathologic conditions of the temporal bone such as congenital malformations, particularly in young children with sensorineural hearing loss. Some external, middle and inner ear structures are difficult to evaluate. The objective of this study has been to provide the key planes in coronal and axial planes (five coronal planes and three axial planes) but also with oblique planes reconstruction (two planes) for normal temporal bones evaluation. These standardized planes help to improve visualization of the main congenital malformations. Identification of obvious morphogenetic malformations (Michel aplasia, Mondini deformity....) is not difficult. However, less severe dysplasia may be missed or normal micro anatomic structures in newborn misreaded. © 2011 Elsevier Masson SAS.
Philippe A.,University of Paris Descartes |
Malan V.,University of Paris Descartes |
Jacquemont M.-L.,University of Paris Descartes |
Boddaert N.,Service dImagerie Pediatrique |
And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2013
We report here on two patients with Xq25 duplication encompassing GRIA3 gene, encoding glutamate receptor, ionotropic, AMPA subunit 3. The first case of Xq25 duplication was identified using genome-wide array comparative genomic hybridization (array-CGH) in a 24-year-old patient with syndromic intellectual disability. Based on similar facial features, we clinically suspected a second case of Xq25 duplication in a 4-year-old boy with intellectual disabilty. This duplication was confirmed by multiplex ligation-dependent probe amplification (MLPA) of the GRIA3 gene, as well as by fluorescence in situ hybridization (FISH) and further refined by array-CGH. We suggest that Xq25 duplication is responsible for a novel clinically recognizable X-linked intellectual disability. Finally, the review of so far published Xq25 duplications support, in addition to the role of GRIA3 gene, a potential contribution of the duplication of STAG2 (Stromal Antigen 2) gene coding for the subunit SA1 of the cohesin complex in the clinical phenotype. © 2012 Wiley Periodicals, Inc.
Adamsbaum C.,University of Paris Descartes |
Husson B.,Service dImagerie Pediatrique
Archives de Pediatrie | Year: 2012
Non-accidental brain trauma (also called shaken baby syndrome) represent the main cause for morbidity and mortality in the context of child abuse. It often occur in young infants aged less than 8. months. The shaking leading to brain injuries are very violent and sometimes associated with a final impact. Intracranial injuries may be isolated without skeletal trauma or bruising. In any suspicion of such a diagnosis, emergency hospitalization is indicated. Brain CT, easy to perform in emergency, is the diagnostic key. It discloses diffuse subdural hematomas in typical sites as vertex, interhemispheric space and tentorium. There is no clear background of trauma and the related story is changing over time. The 3D analysis of the skull looks for signs of recent impact as a fracture that is sometimes complex and/or a soft tissue swelling of the scalp. Intraparenchymal injuries (contusions, tearing, and overall anoxic ischemic injuries) are better analyzed with MRI. The prognosis depends on their extent. Ophtalmologic examination is systematically performed looking for retinal hemorrhages (around one third of cases) which may be very subtle. Bruising is a major diagnostic sign, but inconstantly present. A precise datation of skeletal and/or brain injuries is not possible with imaging and the only indication of use is to establish the presence of " age different lesions" This indicates repeated trauma and thereby a high risk of recurrence. © 2012 Elsevier Masson SAS.
Rayssiguier R.,Montpellier University Hospital Center |
Dumont C.,Montpellier University Hospital Center |
Flunker S.,Service dImagerie Pediatrique |
Couture A.,Montpellier University Hospital Center |
And 2 more authors.
Prenatal Diagnosis | Year: 2014
Objectives: The objective of this article is to describe and assess prenatal imaging findings, fetal and postnatal outcomes of thrombosis of torcular herophili, and to determine diagnostic features, pathophysiology, prognosis, and optimal management. Methods: Over a decade, we compiled the largest single-center retrospective study of outcomes. Fetal magnetic resonance imaging (MRI) was used to confirm the sonographic suspicion and monitor thrombosis of torcular herophili. We noted prenatal and postnatal imaging specifications, pregnancy outcomes, and clinical and radiological pediatric monitoring. Analysis of findings and review of the literature allowed us to define prognostic factors. Results: In eight cases of prenatal diagnosis of thrombosis of torcular herophili, MRI outcomes were specific. There were five deliveries at full term, two terminations of pregnancy, and one fetal demise in utero. Neonates had a good clinical and radiological outcome. Factors of poor prognosis were deep venous sinus thrombosis, enduring mass effect, brain parenchymal injury, and heart failure related to dural arteriovenous shunt. Conclusion: Among dural sinus malformations, thrombosis of torcular herophili with or without extension at the posterior segment of the longitudinal sinus frequently has a good prognosis. It is urgent to wait because the prognosis can only be ascertained over time by means of ultrasound scan and MRI monitoring. © 2014 John Wiley & Sons, Ltd.
Fournet C.,University of Paris Descartes |
Adamsbaum C.,Service dImagerie Pediatrique
Revue du Praticien | Year: 2011
Imaging plays an Important role in the diagnosis of abdominal pain. Plain abdomen radiography is of very limited value, but is still too often requested. Ultrasound is the first-line procedure. However, it does not always provide answers to all the questions. It is thus essential to know Its limitations and flaws. Ultrasound should complement the physical examination.