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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.


PubMed | Service de genetique clinique, Service dimagerie pediatrique and Service gynecologie obstetrique
Type: Journal Article | Journal: Journal de gynecologie, obstetrique et biologie de la reproduction | Year: 2016

In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis.This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with cardiac malformation or multiple associated congenital anomalies.During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5fetuses with cardiac malformation and one with multiple associated congenital anomalies. Therefore, five cases of isolated polyhydramnios were included. All 5fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1thymic hypoplasia diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI.When faced with a polyhydramnios, the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome.


Cartault A.,Unite dEndocrinologie | Caula-Legriel S.,Unite dEndocrinologie | Baunin C.,Service dImagerie Pediatrique | Le Mandat A.,Unite de Chirurgie Viscerale | And 3 more authors.
Endocrine Development | Year: 2012

Ovarian masses are the most frequent gynecological pathology seen in adolescent girls. Functional or organic tumors of the ovary are usually benign and the incidence rises with age. Most cysts are functional and adnexal torsion is the main complication, but a malignant etiology must nevertheless always be eliminated. The clinical presentation is quite variable. Ultrasonography is the investigation of choice: the sonogram will reveal a strictly fluid, benign functional cyst, suggest an adnexal torsion, and provide evidence of a heterogeneous mass. Emergency surgery is indicated only in the case of suspected ovarian torsion, in order to perform detorsion. In all other cases, serum tumor marker measurements will orient the diagnosis and MRI is an essential complement to imaging of tumors with heterogeneous solid components. Surgery and histopathological examination then determine the stage and the benign or malignant nature of the mass. Ovarian tumors are classified by the World Health Organization based on the cell of origin into epithelial tumors, germ cell tumors and sex cord-stromal tumors. Surgery should always follow oncological standards and be as conservative as possible to preserve future fertility. Copyright © 2012 S. Karger AG, Basel.


Pienkowski C.,Unite dEndocrinologie | Cartault A.,Unite dEndocrinologie | Carfagna L.,Unite de Chirurgie Viscerale | Ernoult P.,Unite dEndocrinologie | And 5 more authors.
Endocrine Development | Year: 2012

Visualization of follicles is perfectly physiological during childhood, their diameter generally does not exceed 10 mm. Ovarian cyst in childhood is well defined for a fluid image >20 mm. Generally mild and asymptomatic, ovarian cysts are fluid formations usually discovered incidentally by ultrasound. Some are hormonally active and cause the development of sexual characteristics. The natural history of functional cysts is eventual regression, and persistence is suggestive of organic tumor. The onset of pain is a sign of complication, and an abrupt sharp pain with vomiting is suggestive of ovarian torsion, in which case surgical intervention is urgent. In all cases, the diagnosis is based on pelvic ultrasound. MRI and tumor marker assays are required to determine the nature of an organic cyst before proceeding to surgery. These cysts may appear functional from the fetal period onward and will require management from the first days of life. Certain endocrine disorders such as precocious puberty, hypothyroidism, and aromatase deficiency cause functional cysts in girls. Recurrent bleeding is due to hormonally active cysts and suggests McCune-Albright syndrome. Although the persistence of a cyst suggests a neoplasm, a fluid character indicates benignity. Imagery is a useful aid in the diagnosis of epithelial tumors (cystadenomas) or teratoma (dermoid cyst). Copyright © 2012 S. Karger AG, Basel.


PubMed | Service dimagerie pediatrique, Institute national Kassab and Service dorthopedie infantile
Type: Case Reports | Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | Year: 2016

Primary hyperparathyroidism, widely prevalent in women after menopause, remains rare in children and adolescents. Sporadic forms are the most frequent. Clinical manifestations are general, renal, gastrointestinal, cardiac, or bony. Diagnosis is biological and radiological. The imaging modalities allow assessment of the disease impact and identification of the parathyroid adenoma.


Cartry C.,Service dImagerie Pediatrique | Viallon V.,Unite de Biostatistique et Epidemiologie | Viallon V.,University of Paris Descartes | Hornoy P.,Service dImagerie Pediatrique | And 2 more authors.
Journal de Radiologie | Year: 2010

Diffusion-weighted MR imaging of the normal fetal brain: marker of fetal brain maturationPurpose. To determine the reliability and variations of apparent diffusion coefficient (ADC) values in normal fetuses.Materials and methods. Retrospective study (2007-2008) on 22 normal fetal MR examinations, performed between 30 and 34 of gestation, using a routine protocol (T1W and T2W images in 3 planes, bCombining double low line1,000 diffusion-weighted imaging) without sedation. ADC values were measured by placing 3 adjacent regions of interest (ROI) including a centrally located ROI over the right frontal and occipital white matter (6 ROI). Statistical analysis: reproducibility of adjacent ADC values (intraclass correlation coefficient: ICC) and comparison between frontal and occipital ADC values (Wilcoxon).Results. The mean ADC value was 1.78 mm 2/s for the frontal white matter (±0.10) and 1.66 mm 2/s for the occipital white matter (±0.12) with excellent reproducibility (ICCCombining double low line0.91 in the frontal lobe) and good reproducibility for adjacent measurements (ICCCombining double low line0.7). A linear inverse correlation existed between ADC values and gestational age in the occipital lobes, and a significant fronto-occipital gradient existed after 32 weeks of gestational age.Conclusion. ADC value measurements are relaible and inversely correlated with gestational age due to fetal brain maturation. The existence of a fronto-occipital gradient after 32 weeks of gestational age could be a marker of normal maturation used in clinical practice. © 2010 Éditions Françaises de Radiologie.


Bach-Segura P.,Maternite Regionale de Nancy | Belarbi N.,Service dImagerie Pediatrique
Journal de Radiologie | Year: 2011

Vomiting during the neonatal period is frequent. The purpose is to detect neonates and infants with digestive pathology requiring urgent management such as duodenal atresia, small bowel volvulus, acute intussusception, and hypertrophic pyloris stenosis. All of these conditions may be diagnosed by ultrasound which should be performed when clinically suspected. © 2011 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.


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.


Fournet C.,University of Paris Descartes | Merzoug V.,Cabinet de Radiologie et dEchographie Saint Germain | 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.

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