Publications by authors named "Catherine Treguier"

15 Publications

  • Page 1 of 1

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

Eur J Med Genet 2020 Dec 31;63(12):104087. Epub 2020 Oct 31.

Service de génétique, CLAD Ouest, CHU Rennes, Rennes, France; Service de génétique, CRDI, CHU Rennes, Rennes, France.

ATP7A-related copper transport disorders are classically separated in three pathologies according to their severity, all inherited in an X-linked recessive manner: Menkes disease (MD, OMIM #309400) which represent more than 90% of cases; occipital Horn Syndrome (OHS, OMIM #304150) and ATP7A-related distal motor neuropathy also named X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) (Kennerson et al., 2010). Although there is no clear cut correlation between Cu and ceruloplasmin levels in ATP7A related disorders, these three entities probably represent a continuum partly depending on residual functional ATP7A protein (Møller, 2015). Thus far OHS and SMAX3 only partially overlap. In fact patients with OHS usually have no distal motor neuropathy signs but, on the other hand, occipital horns, which are the main sign of OHS, have not been described in SMAX3 patient. We describe here a patient bearing a missense ATP7A mutation with associated signs of distal motor neuropathy as well as occipital horns, confirming that OHS and SMAX3 are a continuum.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104087DOI Listing
December 2020

Chest computed tomography findings for a cohort of children with pulmonary Langerhans cell histiocytosis.

Pediatr Blood Cancer 2020 10 25;67(10):e28496. Epub 2020 Jul 25.

Pediatric Radiology Department, Assistance Publique-Hopitaux de Paris (APHP), Trousseau Hospital, Paris, France.

Objective: This study was undertaken to describe the spectrum of lung computed-tomography (CT) findings in children with pulmonary Langerhans cell histiocytosis (PLCH) and to evaluate for this population the CT-scan nodule and cyst scores proposed by adult pulmonologists at diagnosis and during follow-up.

Methods: Among 175 children with PLCH identified in the French national population-based Langerhans cell histiocytosis cohort, 60 were retrospectively selected by the availability of CT for a central review by three pediatric radiologists. These 60 patients are representative of childhood PLCH for almost all clinical aspects, except a lower percentage of risk organ involvement (38% vs 54%; P = 0.05).

Results: The 60 children's chest CT scans (n = 218) were reviewed. At diagnosis, 63% of them had nodules, 53% had cysts, and 29% had both. The percentages of patients with nodules or cysts increased from diagnosis to peak disease activity, respectively, from 63% to 73% and from 53% to 66%. The costophrenic angle was involved in 71%. Patients with pneumothorax (25%) had a higher median cyst score. Alveolar consolidation was observed in 34%. Patients with low CT-scan nodule and cyst scores had no long-term pulmonary sequelae.

Conclusions: Well-known characteristics of adult PLCH (nodules and cysts) were observed in children. The chest CT scores proposed by adult pulmonologists could easily be applied to childhood PLCH. Lesions in children, unlike those in adults, are frequently located near the costophrenic angles. Alveolar consolidation might be considered an atypical feature of childhood PLCH.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.28496DOI Listing
October 2020

Bone age for chronological age determination - statement of the European Society of Paediatric Radiology musculoskeletal task force group.

Pediatr Radiol 2019 06 26;49(7):979-982. Epub 2019 Mar 26.

Haukeland University Hospital/University of Bergen, Bergen, Norway.

Radiologists are sometimes requested to determine a person's age based on skeletal radiographs. Critical reviews demonstrate that this cannot be done with sufficient accuracy with existing methods.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-019-04379-4DOI Listing
June 2019

Correlations between physical and ultrasound findings in congenital clubfoot at birth.

Orthop Traumatol Surg Res 2018 09 12;104(5):651-655. Epub 2018 Jun 12.

Société d'orthopédie de l'ouest (SOO), 18, rue de Bellinière, 49800 Trélazé, France.

Background: At birth, clinical classifications are the only available tools for evaluating the severity of congenital clubfoot. Ultrasound provides an assessment of the anatomical abnormalities. The objective of this study was to assess correlations between physical and ultrasound findings at birth.

Hypothesis: Physical and ultrasonography provide different findings in congenital clubfoot and should therefore be used in conjunction.

Material And Method: One hundred and forty-five clubfeet in 108 patients born between 2006 and 2010 were included in a retrospective study. Clubfoot severity was classified using two methods, the modified Dimeglio classification based on physical findings and an ultrasound score based on the talo-navicular angle (TNA) and metaphyso-talo-calcaneal angle (MTCA). Each of these two methods distinguished three severity grades. Agreement between the two methods was assessed by computing the coefficient.

Results: The results confirmed the hypothesis by showing low agreement between the clinical and ultrasound classifications. The severity grades were identical with the two methods for only 83/145 (57%) feet. The coefficient was 0.086.

Discussion: The two ultrasound views used to measure the TNA and MTCA, respectively, added an assessment of the three main deformities that characterise congenital clubfoot (equinus, adduction of the forefoot, and adduction of the calcaneo-pedal unit). Ultrasonography complements the physical examination at birth. In the future, using both physical examination and ultrasound scanning to monitor babies with clubfoot may allow early treatment adjustments aimed at optimising the outcome.

Level Of Evidence: IV, retrospective observational study.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.otsr.2018.02.019DOI Listing
September 2018

Reversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children.

Pediatr Radiol 2018 07 17;48(7):999-1007. Epub 2018 Apr 17.

Department of Medical Imaging, Hôpital Sud, CHU de Rennes, Rennes, France.

Background: Reversible lesions of the corpus callosum with initial restricted diffusion on diffusion-weighted imaging (DWI) are rare and mainly described in the south Asiatic population.

Objective: The purpose of this study was to describe the clinical presentation, imaging findings, prognosis and etiology of transient restricted diffusion lesions of the corpus callosum in a series of Caucasian children.

Materials And Methods: Seven children presenting with a transient restricted DWI lesion of the corpus callosum were included. Their clinical presentations and paraclinical examinations were investigated in addition to their MRI findings during the acute phase and at follow-up.

Results: Five patients initially presenting with prodromal flu-like symptoms were diagnosed with mild encephalopathy with reversible corpus callosum lesions, three of which were due to the influenza virus. For two patients (twins) with a stroke-like presentation and without febrile illness, a central nervous system manifestation of X-linked Charcot-Marie-Tooth disease with connexin 32 mutation was diagnosed. All patients had a good clinical prognosis without clinical sequelae or residual MRI lesion for all patients at follow-up.

Conclusion: A transient lesion of the corpus callosum with restricted diffusion should prompt the radiologist to suggest an infectious trigger in children. The prognosis of these patients was good with normalization of clinical symptoms and MRI without any specific treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-018-4124-xDOI Listing
July 2018

Magnetic resonance imaging in children presenting migraine with aura: Association of hypoperfusion detected by arterial spin labelling and vasospasm on MR angiography findings.

Cephalalgia 2018 04 24;38(5):949-958. Epub 2017 Jul 24.

1 CHU Rennes, Department of Radiology, Pediatric Imaging, Rennes, France.

Objective A child presenting with a first attack of migraine with aura usually undergoes magnetic resonance imaging (MRI) to rule out stroke. The purpose of this study was to report vascular and brain perfusion findings in children suffering from migraine with aura on time-of-flight MR angiography (TOF-MRA) and MR perfusion imaging using arterial spin labelling (ASL). Methods We retrospectively included all children who had undergone an emergency MRI examination with ASL and TOF-MRA sequences for acute neurological deficit and were given a final diagnosis of migraine with aura. The ASL perfusion maps and TOF-MRA images were independently assessed by reviewers blinded to clinical data. A mean cerebral blood flow (CBF) value was obtained for each cerebral lobe after automatic data post-processing. Results Seventeen children were finally included. Hypoperfusion was identified in one or more cerebral lobes on ASL perfusion maps by visual assessment in 16/17 (94%) children. Vasospasm was noted within the intracranial vasculature on the TOF-MRA images in 12/17 (71%) children. All (100%) of the abnormal TOF-MRA images were associated with homolateral hypoperfusion. Mean CBF values were significantly lower ( P < 0.05) in visually hypoperfused lobes than in normally perfused lobes. Conclusion ASL and TOF-MRA are two totally non-invasive, easy-to-use MRI sequences for children in emergency settings. Hypoperfusion associated with homolateral vasospasm may suggest a diagnosis of migraine with aura.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/0333102417723570DOI Listing
April 2018

Ultrasonography for the diagnosis of craniosynostosis.

Eur J Radiol 2017 May 18;90:250-255. Epub 2017 Mar 18.

CHU Rennes, Department of Radiology, Hôpital Sud, F-35203 Rennes, France.

Objectives: The aim of this study was to report our experience with ultrasonography in our routine practice for the diagnosis of cranial deformity in infants.

Methods: We conducted a single-institution retrospective study of infants referred to our department because of skull deformity. We only included in this study infants having undergone both US and 3D-CT to ensure accurate comparisons. Each cranial suture was described as normal or closed (partial or complete closure). Sonography examination results were correlated with 3D-CT findings as a gold-standard.

Results: Forty infants were included with a mean age of 5.2±4.9months. Thirty had a craniosynostosis and 10 children had a postural deformity with normal sutures. Correlation between US and 3D-CT for the diagnosis of normal or closed suture had a specificity and a sensitivity of 100%. US examination for the diagnosis of complete or incomplete synostosis had a sensitivity of 100%.

Conclusions: Cranial US is an effective technique to make a positive or negative diagnosis of prematurely closed suture. US examination of sutures is a fast and non-radiating technique, which may serve as a first-choice imaging modality in infants with skull deformity.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejrad.2017.03.006DOI Listing
May 2017

Comparison of early and late MRI in neonatal hypoxic-ischemic encephalopathy using three assessment methods.

Pediatr Radiol 2015 Dec 26;45(13):1988-2000. Epub 2015 Jul 26.

Department of Imaging, Hôpital Sud, University Hospital, 16 Boulevard de Bulgarie, BP 90347, 35203, Rennes, Cedex 2, France.

Background: There is no consensus on the optimum timing of MRI in neonates with hypoxic-ischemic encephalopathy treated with hypothermia. Reliable early imaging assessment might help managing treatment.

Objective: To assess non-random differences between early and late MRI that might influence intensive-care decisions.

Materials And Methods: This single-center retrospective study included all asphyxiated term neonates eligible for hypothermia treatment November 2009-July 2012. MRI scans were systematically performed at day 4 (early MRI) and day 11 of life as part of routine protocol. Two experienced pediatric radiologists reviewed both scans according to three assessment methods: a pattern classification, a scoring system and a simplified classification. Agreement between early and late imaging findings was assessed using Cohen's kappa coefficients.

Results: Thirty-three neonates were included. Interobserver agreement was excellent. Early MRI detected all severe injuries. Agreement between early and late MRI was excellent for the simplified classification (κ = 0.82), good for the pattern classification (κ = 0.64), and good to excellent for 3 scores out of 4 in the scoring system (κ = 0.70-0.89).

Conclusion: Early MRI may provide valuable information about brain injury to help parents and neonatologists in intensive-care decisions at the end of hypothermia treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-015-3419-4DOI Listing
December 2015

Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology.

Prenat Diagn 2015 Feb 26;35(2):200-2. Epub 2014 Oct 26.

Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4502DOI Listing
February 2015

Primary gliomatosis cerebri involving gray matter in pediatrics: a distinct entity? A multicenter study of 14 cases.

Childs Nerv Syst 2013 Apr 10;29(4):565-71. Epub 2013 Jan 10.

Department of Pediatric Oncology, Pontchaillou University Hospital, Rennes, France.

Background And Purpose: Gliomatosis cerebri (GC) is a rare neoplasm including a variety of tumors, with extremely variable evolution and heterogeneity of prognosis. It may appear either de novo or after a focal glioma, involve predominantly the white or the gray matter, and concern either pediatric or adult patients. We focused on primary GC involving exclusively gray matter in a pediatric population in order better to define the presentation and outcome of this disease.

Patients And Methods: We reviewed the databases of seven Departments of Pediatric Oncology to identify pediatric cases of GC between 1990 and 2007. Patients were included if they demonstrated a diffuse infiltrative process involving gray matter in magnetic resonance imaging (MRI) and histological tissue analyses, confirming a proliferative glial disorder.

Results: Fourteen patients with a median age of 8 years were identified. Epilepsy was the main presenting symptom. Brain MRI showed a lesion of the temporal and insular cerebral cortex associated with tumoral infiltration of the thalami and the basal ganglia. Histological examination confirmed the diagnosis of high-grade glioma. Prognosis was always very gloomy in the short term, with a median survival of less than a year.

Conclusion: This rare entity, whose prognosis is appalling whatever the treatment proposed, should be clearly identified within the heterogeneous group of GC in the same way as diffuse intrinsic pontine gliomas have been identified among brain stem tumors. Systematic biopsies appear essential to permit the molecular studies which will assist in guiding the choice of future targeted treatments.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-012-2016-1DOI Listing
April 2013

Whole-body post-mortem computed tomography compared with autopsy in the investigation of unexpected death in infants and children.

Eur Radiol 2013 Jun 16;23(6):1711-9. Epub 2012 Dec 16.

Department of Radiology, Rennes University Hospital, CHU Hôpital Sud, Boulevard de Bulgarie, BP 90347, 35203 Rennes Cedex 2, France.

Objectives: To investigate the contribution of whole-body post-mortem computed tomography (PMCT) in sudden unexpected death in infants and children.

Methods: Forty-seven cases of sudden unexpected death in children investigated with radiographic skeletal survey, whole-body PMCT and autopsy were enrolled. For imaging interpretation, non-specific post-mortem modifications and abnormal findings related to the presumed cause of death were considered separately. All findings were correlated with autopsy findings.

Results: There were 31 boys and 16 girls. Of these, 44 children (93.6 %) were younger than 2 years. The cause of death was found at autopsy in 18 cases (38.3 %), with 4 confirmed as child abuse, 12 as infectious diseases, 1 as metabolic disease and 1 as bowel volvulus. PMCT results were in accordance with autopsy in all but three of these 18 cases. Death remains unexplained in 29 cases (61.7 %) and was correlated with no abnormal findings on PMCT in 27 cases. Major discrepancies between PMCT and autopsy findings concerned pulmonary analysis.

Conclusions: Whole-body PMCT may detect relevant findings that can help to explain sudden unexpected death and is essential for detecting non-accidental injuries. We found broad concordance between autopsy and PMCT, except in a few cases of pneumonia. It is a non-invasive technique acceptable to relatives.

Key Points: • Whole-body post-mortem computed tomography (PMCT) is an effective non-invasive method. • Whole-body PMCT is essential for detecting child abuse in unexpected death. • There is concordance on cause of death between PMCT and autopsy. • Whole-body PMCT could improve autopsy through dissection and sampling guidance. • PMCT shows findings that may be relevant when parents reject autopsy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00330-012-2738-1DOI Listing
June 2013

Localized hypertrophic neuropathy of the sciatic nerve in children: MRI findings.

Pediatr Radiol 2012 Aug 26;42(8):952-8. Epub 2012 Jul 26.

Department of Radiology, Hopital Sud, University Hospital, 16 Boulevard de Bulgarie, BP 90347, 35203 Rennes cedex 2, France.

Background: Localized hypertrophic neuropathy (LHN) of the sciatic nerve in children is a rare condition characterized by a painless neurological deficit in the sciatic nerve territory.

Objective: To demonstrate the role of MRI using a specific protocol and describe the primary findings in LHN.

Materials And Methods: Imaging in four children (age 2 years to 12 years) is presented. All children presented with lower limb asymmetry. Three had a steppage gait. LHN was confirmed by electrophysiological studies and by MRI of the whole sciatic nerve with a dedicated protocol covering the lumbar spine and the lower limb.

Results: There were four direct MRI findings: (1) linear and focal hypertrophy with progressive enlargement of a peripheral nerve or plexus diameter, (2) abnormal hyperintensity of the nerve on T2-weighted images, (3) preserved fascicular configuration, and (4) variable enhancement after intravenous gadolinium administration. In addition there were atrophy and fatty infiltration of innervated muscles. MRI was helpful for determining the extent of lesions and in excluding peripheral nerve compression or tumour.

Conclusion: MRI of the whole sciatic nerve is the method of choice for diagnosing LHN of the sciatic nerve.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-012-2418-yDOI Listing
August 2012

Abnormal functional lateralization and activity of language brain areas in typical specific language impairment (developmental dysphasia).

Brain 2011 Oct 29;134(Pt 10):3044-58. Epub 2011 Jun 29.

INRIA, VisAGeS Unit/Project, F-35042 Rennes, France.

Atypical functional lateralization and specialization for language have been proposed to account for developmental language disorders, yet results from functional neuroimaging studies are sparse and inconsistent. This functional magnetic resonance imaging study compared children with a specific subtype of specific language impairment affecting structural language (n = 21), to a matched group of typically developing children using a panel of four language tasks neither requiring reading nor metalinguistic skills, including two auditory lexico-semantic tasks (category fluency and responsive naming) and two visual phonological tasks based on picture naming. Data processing involved normalizing the data with respect to a matched pairs paediatric template, groups and between-groups analysis, and laterality indices assessment within regions of interest using single and combined task analysis. Children with specific language impairment exhibited a significant lack of left lateralization in all core language regions (inferior frontal gyrus-opercularis, inferior frontal gyrus-triangularis, supramarginal gyrus and superior temporal gyrus), across single or combined task analysis, but no difference of lateralization for the rest of the brain. Between-group comparisons revealed a left hypoactivation of Wernicke's area at the posterior superior temporal/supramarginal junction during the responsive naming task, and a right hyperactivation encompassing the anterior insula with adjacent inferior frontal gyrus and the head of the caudate nucleus during the first phonological task. This study thus provides evidence that this subtype of specific language impairment is associated with atypical lateralization and functioning of core language areas.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awr141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331119PMC
October 2011

5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.

Am J Med Genet A 2011 Apr 15;155A(4):725-31. Epub 2011 Mar 15.

Cytogenetics Department, Pontchaillou University Hospital, Rennes, France.

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33758DOI Listing
April 2011

Ultrasound: a helpful technique in the analysis of congenital vertical talus. A case report.

J Pediatr Orthop B 2006 Jan;15(1):70-2

Department of Pediatric Orthopaedic Surgery, CHRU Pontchaillou, Rennes, France.

Congenital vertical talus is a rare condition. In newborns, the diagnosis is evident in severe forms, but it can be difficult to confirm in mild ones. Non-ossified tarsal navicular cannot be visualized on standard roentgenograms until it is ossified. This work demonstrates that ultrasound is helpful in the early diagnosis of congenital vertical talus and in the evaluation of the therapeutic concept and effects.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/01202412-200601000-00015DOI Listing
January 2006