PubMed | Plateforme de Genomique IMRB 955, Service de Nephrologie pediatrique, University Paris - Sud, University Paris Est Creteil and 2 more.
Type: | Journal: Molecular cytogenetics | Year: 2015
Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient.The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and renal proximal tubulopathy associated with low-molecular-weight proteinuria, hypercalciuria, hyperaminoaciduria, hypophosphatemia and hyperuricemia. Standard and high resolution karyotypes showed a 46,XY formula. Array-CGH revealed two consecutive cryptic deletions in the region Xp11.22, measuring respectively 148 Kb and 2.6Mb. The two deletions were inherited from the asymptomatic mother.Array-CGH allowed us to determine candidate genes in the deleted region. The disruption and partial loss of CLCN5 confirmed the diagnostic of Dent disease for this patient. Moreover, the previously described involvement of SHROOM4 in neuronal development is discussed.
Park A.K.,Sunchon National University |
Lee S.-J.,Inje University |
Phi J.H.,Seoul National University |
Wang K.-C.,Seoul National University |
And 12 more authors.
Neuro-Oncology | Year: 2012
Pediatric medulloblastoma is considered a highly heterogeneous disease and a new strategy of risk stratification to optimize therapeutic outcomes is required. We aimed to investigate a new risk-stratification approach based on expression profiles of medulloblastoma cohorts. We analyzed gene expression profiles of 30 primary medulloblastomas and detected strong evidence that poor survival outcome was significantly associated with mRNA expression profiles of 17p loss. However, it was not supported in independent cohorts from previously published data (n = 100). We speculated that this discrepancy might come from complex conditions of two important prognostic determinants: loss of tumor suppressors (chromosome 17p) and high expression of oncogenes c-myc (MYCC) or N-myc (MYCN). When patients were stratified into 5 or 7 subgroups based on simultaneous consideration of these 2 factors while defining the Wnt group as independent, obviously different survival expectancies were detected between the subgroups. For instance, predicted 5-year survival probabilities ranged from 19% to 81% in the 5 subgroups. We also found that age became a significant prognostic marker after adjusting for 17p, MYCC, and MYCN status. Diminished survival in age <3 years was more substantial in subgroups with high expression of MYCC, MYCN, or 17p loss but not in other subgroups, indicating that poor survival outcome might be synergistically affected by these 3 factors. Here we suggest a more tailored subgrouping system based on expression profiles of chromosome 17p, MYCC, and MYCN, which could provide the basis for a novel risk-stratification strategy in pediatric medulloblastoma. © 2011 The Author(s).
Le Monnier A.,University of Paris Descartes |
Le Monnier A.,World Health Organization |
Le Monnier A.,Center Hospitalier Of Versailles |
Blanot S.,Service de Neurochirurgie Pediatrique |
And 4 more authors.
Journal of Clinical Microbiology | Year: 2011
We report a case of ventriculoperitoneal (VP) shunt infection in a 3-year-old boy caused by the food-borne pathogen Listeria monocytogenes, subsequent to acute peritonitis. This unusual presentation of central nervous system (CNS) listeriosis underlines the ability of the bacteria to form and survive within biofilms on indwelling medical devices. Bacterial persistence may lead to treatment failure and spreading. We highlight the helpfulness of specific quantitative real-time PCR for the hly gene (PCR-hly) for the diagnosis and follow-up of such infections in detecting bacterial persistence within medical devices despite effective antibiotic treatment. Only the surgical replacement of the VP shunt will resolve the infection. Copyright © 2011, American Society for Microbiology. All Rights Reserved.
PubMed | Faculte des science de Luminy, St Jude Childrens Research Hospital, Service dAnatomie Pathologique et de Neuropathologie, Service de Radiopediatrie Imagerie 2 and 3 more.
Type: Journal Article | Journal: Journal of neuro-oncology | Year: 2016
Childhood brain tumors show great histological variability. The goal of this retrospective study was to assess the diagnostic accuracy of multimodal MR imaging (diffusion, perfusion, MR spectroscopy) in the distinction of pediatric brain tumor grades and types. Seventy-six patients (range 1 month to 18 years) with brain tumors underwent multimodal MR imaging. Tumors were categorized by grade (I-IV) and by histological type (A-H). Multivariate statistical analysis was performed to evaluate the diagnostic accuracy of single and combined MR modalities, and of single imaging parameters to distinguish the different groups. The highest diagnostic accuracy for tumor grading was obtained with diffusion-perfusion (73.24%) and for tumor typing with diffusion-perfusion-MR spectroscopy (55.76%). The best diagnostic accuracy was obtained for tumor grading in I and IV and for tumor typing in embryonal tumor and pilocytic astrocytoma. Poor accuracy was seen in other grades and types. ADC and rADC were the best parameters for tumor grading and typing followed by choline level with an intermediate echo time, CBV for grading and Tmax for typing. Multiparametric MR imaging can be accurate in determining tumor grades (primarily grades I and IV) and types (mainly pilocytic astrocytomas and embryonal tumors) in children.
George J.L.,Service dophtalmologie B |
Marchal J.C.,Service de neurochirurgie pediatrique
Neurochirurgie | Year: 2010
" Orbital tumors (OT) are neoplasms of the bony orbit and contents except for the eyeball." Given this definition, we exclude the retinoblastomas, which are the most frequent tumors of this anatomical area in the pediatric population. Although these tumors are rare, there is a great variety of etiologies. Among them, the most frequent OTs in childhood are rhabdomyosarcomas and metastatic tumors: metastatic neuroblastomas and leukemias (chloromas). Moreover, adult and pediatric varieties of OT are made up of two clusters of distinctive histological entities. Examination must be careful: measurement, direction of proptosis, impairment of ocular motility, compressive optic neuropathy, strabismus, etc. Age at onset as well as unilateral or bilateral proptosis are important features. Benign tumors such as dermoid cysts or hemangiomas grow slowly, whereas rapid growth suggests a malignant tumor. Fundi and visual acuity should be checked. The general examination focuses especially on cutaneous abnormalities such as café au lait spots and subcutaneous nodules in neurofibromatosis type 1 (NF1), a hemangioma that often involves the cutaneous portion of the eyelid. When a metastatic tumor is suspected, abdominal palpation and ultrasonography must be performed. Ultrasonography leaves the posterior third of the orbit inaccessible to exploration. The depth to which it can penetrate the orbit is limited (20. mm). Most of the time, standard x-rays, CT, and MR imaging allow for an adequate assessment and usually provide a diagnosis. In children, CT and MRI sometimes require anesthesia to be properly performed. © 2010 Elsevier Masson SAS.
PubMed | Service de neurochirurgie pediatrique
Type: Journal Article | Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | Year: 2015
A sacral dimple measuring less than 5mm, within 25mm of the anus on the median line, with no other cutaneous anomaly, does not require any complementary examination. Parents can be reassured. However, any cutaneous depression in the sacrolumbar region not respecting these criteria must be considered as an occult dysraphism until proved otherwise. A medullary ultrasound examination and a consultation with a specialist (pediatric neurosurgeon) are necessary. The dermic sinus is the main differential diagnosis, with favorable outcome in case of early treatment before any infectious complication arises. Conversely, the risk of permanent sequelae is high if neglected or in case of late diagnosis.
PubMed | Center Medico Chirurgical Of Readaptation Des Massues, Service mobile daccompagnement, CNRS Biometry and Evolutionary Biology Laboratory, Ferrari and 2 more.
Type: Journal Article | Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | Year: 2016
Craniopharyngioma is a rare, benign central nervous system tumor, which may be a source of multiple complications, from endocrinology to vision, neurology and neurocognitive functions. This morbidity can lead to reduced participation in life activities, as described in the International Classification of Functioning, Disability, and Health. The primary objective of this study was to measure participation in life activities in a population of children and young adults affected by childhood craniopharyngioma, using the LIFE-H questionnaire (Assessment of Life Habits), validated as a social participation measurement tool in various pediatric disabilities. We also describe complications in our population and examined the potential links between tumor characteristics, complications, and participation in life activities.This was a descriptive study, including all patients having presented childhood craniopharyngioma (before 18 years of age), followed in the Lyon region between 2007 and 2013. The main criterion was the LIFE-H results, completed by the patient or the carer.Of 21 patients included in the study, 14 completed the questionnaire, a mean 6.7 years after the diagnosis (SD: 3.9 years). The mean total LIFE-H score was 8.4 (SD: 1.03) for a normal score estimated at 10 in the general population. The lowest scores affected the nutrition, community life, and recreation dimensions. No patient had a normal score on all dimensions; 57% of the patients had more than three dimensions affected. The variability of the results between patients was lower for some dimensions with high means (fitness, personal care, communication, housing, mobility, responsibilities, and education) than in others (nutrition, interpersonal relationships, community life, employment, and recreation) with rather low means. All patients had an endocrinological deficit, 19% hypothalamic syndrome, 52% an impaired fulfillment feeling, 76% visual impairment, 14% neurologic impairment, and 91% neurocognitive impairment. In the entire group of patients, 57% were able to attend a normal school (of which 38% needed a personal helper), 43% had to enter a specialized school. In patients in a specialized school, the LIFE-H results were significantly lower in the nutrition, communication, housing, and recreation dimensions. Girls also had significantly better results in many dimensions than boys.Heavy comorbidity goes with childhood craniopharyngioma and affects patients participation in life activities, which is not very low but multidimensional (more than three affected dimensions). This participation is mainly affected in social dimensions, whereas in cerebral palsy, where the LIFE-H has been tested several times, the daily activities dimensions are more affected.Patients with childhood craniopharyngioma are affected in their participation in daily activities, mainly in the social dimensions. This could be improved with systematic diagnosis of these participation impairments, with the goal of adapted multidisciplinary management.
PubMed | Service de radiologie pediatrique, Service de neurochirurgie pediatrique and Service de gynecologie obstetrique
Type: Journal Article | Journal: Neuro-Chirurgie | Year: 2016
Suprasellar arachnoid cysts (SAC) in children are considered rare, but the incidence is increasing due to the improvement of prenatal diagnosis. We present 15 cases of SAC diagnosed during the antenatal period between 2005 and 2015. The records were reviewed retrospectively by specifying the radiological characteristics, treatment modalities, outcomes, and long-term monitoring. Mean follow-up was 71 months. The forms (SAC-1) accounted for 2 cases (13%) with hydrocephalus. We observed 8 (53%) lower forms (SAC-2) with interpeduncular cistern expansion without hydrocephalus. The 5 (33.5%) remaining patients showed asymmetrical forms (SAC-3). Six patients (40%) were treated by ventriculo-cysto-cisternostomy, 1 by fetoscopy, 1 (6.5%) by ventriculo-peritoneal shunt, 2 (13.5%) by pterional craniotomy, and 6 (40%) were simply followed. The surgical outcomes were initially favorable in 9 cases (100%), 1 patient (13%) had to be re-treated later. Non-operated patients were all type 2 and showed no radiological changes. In the long-term, 1 patient (6.5%) had endocrine disruption, 1 had delayed development, 2 (13.5%) had minor neuropsychological impairments, and 1 had epilepsy. Combined monitoring with prenatal MRI and ultrasound can be used to distinguish three subtypes of SAC. SAC-1 and SAC-3 have an excellent prognosis after treatment in the perinatal period. SAC-2 can benefit from simple monitoring and remain asymptomatic in their majority. This classification allows a better prognosis estimation and better treatment decision.
PubMed | Service de neurochirurgie pediatrique
Type: Journal Article | Journal: Neuro-Chirurgie | Year: 2016
The use of an autologous bone graft to repair a cranial bone defect is sometimes impossible in pediatric cases. CUSTOMBONEWe present a pediatric series of 19 children who benefited from a cranioplasty using CUSTOMBONENo complications were reported. Cosmetic outcome was satisfactory in all patients. Only one plasty needed to be changed after a severe head trauma during the postoperative period. The assessment of cerebral blood flow was improved in all patients postoperatively. Complete ossification of the plasty is a long process. The mean time for the ossification to begin was 13 months (range: 3-22 months). The mean follow-up was 2.7 years.The excellent integration of the prosthesis is related to the accuracy of the reconstruction of the preoperative model. The minimum thickness of the plasty (4mm) could represent a challenge in very young children. One limitation is the cost, which remains high.CUSTOMBONE
PubMed | French Institute of Health and Medical Research and Service de neurochirurgie pediatrique
Type: Journal Article | Journal: Neuro-Chirurgie | Year: 2015
Circumventricular organs (CVOs) are a diverse group of specialised structures characterized by peculiar vascular and position around the third and fourth ventricles of the brain. In humans, these organs are present during the fetal period and some become vestigial after birth. Some, such as the pineal gland (PG), subcommissural organ (SCO) and organum vasculosum of the lamina terminalis (OVLT), which are located around the third ventricle, might be the site of origin of periventricular tumours. In contrast to humans, CVOs are present in the adult rat and can be dissected by laser capture microdissection (LCM).In this study, we used LCM and microarrays to analyse the transcriptomes of three CVOs, the SCO, the subfornical organ (SFO) and the PG and the third ventricle ependyma of the adult rat, in order to better characterise these organs at the molecular level. Furthermore, an immunohistochemical study of Claudin-3 (CLDN3), a membrane protein involved in forming cellular tight junctions, was performed at the level of the SCO.This study highlighted some potentially new or already described specific markers of these structures as Erbb2 and Col11a1 in ependyma, Epcam and CLDN3 in the SCO, Ren1 and Slc22a3 in the SFO and Tph, Anat and Asmt in the PG. Moreover, we found that CLDN3 expression was restricted to the apical pole of ependymocytes in the SCO.