Publications (25)76.61 Total impact
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Dataset: Gras 2012 online table 3
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Dataset: Gras 2012 online table 2
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Dataset: Gras 2012 online table 3
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Article: Developmental aspects of normal EEG.
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ABSTRACT: In pediatrics recording of EEG can range from premature infants aged just 25 weeks of gestation to young adults. Recording EEG in pediatrics ranges from 25 weeks of gestation premature in the incubator to young adults. Hence, recording conditions need to be adapted to very different situations, not only of age but also of environment, asepsis, and behavior.This requires that recording conditions be adapted to very different situations, not only of age but also of environment, asepsis and behavior. The two major determinants of EEG features are the level of vigilance and age. Standard examination includes spontaneous sleep until the age of 5 years, and hyperventilation and intermittent light stimulation in older children. Hyperventilation may modify the tracing in a physiological way until adolescence. One of the major characteristics of a child's EEG recording is its course over time that parallels rapid brain maturation. EEG changes are particularly rapid in early age and they involve both temporal and spatial organization. In premature babies modifications appear by two 2 weeks, in infancy by 1 month and in childhood by 1 year, before reaching the adult patterns at an age varying between 8 and 12 years of age. Apart from being aware of the normal EEG patterns according to thein children of different ages, it is important to recognize unusual patterns that are not linked to a pathological situation. Most important are the interpretation and the conclusion of the EEG tracing and any conclusions reached, for which and a precise knowledge besides clinical information is mandatory for this purpose is essential.Handbook of Clinical Neurology 01/2013; 111:79-85. -
Article: Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
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ABSTRACT: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that tends to improve in adulthood. The associated gene, NKX2-1 (previously called TITF1), is essential for organogenesis of the basal ganglia, thyroid and lungs. The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients. We analysed clinical, genetic findings and follow-up data in 28 NKX2-1 mutated BHC patients from 13 families. All patients had private mutations, including seven new mutations, three previously reported mutations and three sporadic deletions encompassing the NKX2-1 gene. Hypotonia and chorea were present in early infancy, with delayed walking ability (25/28); dystonia, myoclonus and tics were often associated. Attention deficit hyperactivity disorder (ADHD) was present in seven. Among the 14 patients followed-up until adulthood, nine had persistent mild chorea, two had near total resolution of chorea but persistent disabling prominent myoclonus and three recovered completely. Learning difficulties were observed in 20/28 patients, and three had mental retardation. Various combinations of BHC, thyroid (67%) and lung (46%) features were noted. We found no genotype-phenotype correlation. A rapid and sustained beneficial effect on chorea was obtained in 5/8 patients treated with tetrabenazine. Early onset chorea preceded by hypotonia is suggestive of BHC. Associated thyroid or respiratory disorders further support the diagnosis and call for genetic studies. Tetrabenazine may be an interesting option to treat disabling chorea.Journal of neurology, neurosurgery, and psychiatry 07/2012; 83(10):956-62. · 4.87 Impact Factor -
Article: Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).
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ABSTRACT: Corpus callosum agenesis (CCA) is generally diagnosed in utero. Outcome appears to be better if the malformation is isolated. The aim of this study, which is the first one with a long (10 years) and standardized follow up, was to report cognitive abilities of children with isolated CCA diagnosed prenatally. We prospectively evaluated 17 children. Clinical examinations, neuropsychological tests were performed each year. School achievement and personal and familial data were collected. Twelve children completed the entire follow up. One child was finally considered to have associated CCA, because signs of fetal alcohol syndrome had become obvious. Of the 11 other children, three (27%) had borderline intelligence whereas the intelligence levels of eight (73%) were in the normal range, although half of these children experienced some difficulties in scholastic achievement. Neither epilepsy nor intellectual deficiency was noted and intellectual quotient scores correlated strongly with the mother's education level. Although prenatal diagnosis of isolated CCA is reliable, false postnatal diagnoses remain possible (10-20%) even with complete prenatal screening. Outcome is mostly favorable because intelligence is within the normal range for nearly 3/4 of the children. However, they frequently have mild learning difficulties.Prenatal Diagnosis 03/2012; 32(3):277-83. · 2.11 Impact Factor -
Article: STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
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ABSTRACT: Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. To date, 25 patients with heterozygous mutation or deletion of STXBP1 have been reported. A diagnosis of early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) was made in most of them, with infantile spasms and nonsyndromic infantile epileptic encephalopathy being the diagnosis in other patients. Although the phenotypic spectrum of STXBP1-related encephalopathy is emerging with evidence suggesting the relatively frequent involvement of this gene in infantile epileptic encephalopathies, accurate clinical descriptions of patients are still necessary to delineate this entity. The sequence of the STXPB1 gene was analyzed in 29 patients with early onset syndromic or nonsyndromic infantile epileptic encephalopathy without brain magnetic resonance imaging (MRI) anomalies and with normal chromosomal and metabolic checkup. Another patient with a complex phenotype was analyzed by comparative genomic hybridization (CGH) array. From the studied series, 2 of 29 patients were found to carry a de novo heterozygous mutation in STXBP1. One patient carried the recurrent p.Arg406His mutation and the other an insertion of 10 bases leading to a premature termination codon. CGH array experiment detected a deletion of 3-3.5 Mbp in the third patient with infantile epileptic encephalopathy and nail malformations. All three had infantile spasms associated with partial seizures that responded to antiepileptic drug therapy. Intellectual abilities were severely impaired in all of them. Generalized tremor was the main neurologic striking feature in the three patients, with one of them further displaying unilateral akinetic-hypertonic syndrome. Mutations in STXBP1 are relatively frequent in patients with infantile epileptic encephalopathies. STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges. Generalized tremor appearing after the first year of life may be a clue to the diagnosis in some patients.Epilepsia 07/2011; 52(10):1820-7. · 3.96 Impact Factor -
Article: GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
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ABSTRACT: GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstrate that loss of GPR56 leads to a dysregulation of the maintenance of the pial basement membrane integrity in the forebrain and the rostral cerebellum. In light of these findings and other data in the literature, this study aimed to refine the clinical features with the first description of a foetopathological case and to define the range of cobblestone-like features in GPR56 bilateral bifrontoparietal polymicrogyria in a sample of 14 patients. We identified homozygous GPR56 mutations in 14 patients from eight consanguineous families with typical bilateral bifrontoparietal polymicrogyria and in one foetal case, out of 30 patients with bifrontoparietal polymicrogyria referred for molecular screening. The foetal case, which was terminated at 35 weeks of gestation in view of suspicion of Walker Warburg syndrome, showed a cobblestone-like lissencephaly with a succession of normal, polymicrogyric and 'cobblestone-like' cortex with ectopic neuronal overmigration, agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres with additional neuronal overmigration in the pons and the cerebellar cortex. The 14 patients with GPR56 mutations (median 8.25 years, range 1.5-33 years) were phenotypically homogeneous with a distinctive clinical course characterized by pseudomyopathic behaviour at onset that subsequently evolved into severe mental and motor retardation. Generalized seizures (12/14) occurred later with onset ranging from 2.5 to 10 years with consistent electroencephalogram findings of predominantly anterior bursts of low amplitude α-like activity. Neuroimaging demonstrated a common phenotype with bilateral frontoparietally predominant polymicrogyria (13/13), cerebellar dysplasia with cysts mainly affecting the superior vermis (11/13) and patchy to diffuse myelination abnormalities (13/13). Additionally, the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in childhood. Taken as a whole, these observations collectively demonstrate that GPR56 bilateral bifrontoparietal polymicrogyria combines all the features of a cobblestone-like lissencephaly and also suggest that GRP56-related defects produce a phenotypic continuum ranging from bilateral bifrontoparietal polymicrogyria to cobblestone-like lissencephaly.Brain 10/2010; 133(11):3194-209. · 9.46 Impact Factor -
Article: LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
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ABSTRACT: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine the spectrum of neurological and radiological features and to assess relationships with the genotype. Retrospective study. Subjects A total of 63 patients with posteriorly predominant lissencephaly. Of the 63 patients, 40 were found to carry either LIS1 point mutations (77.5%) or small genomic deletions (20%), and 1 carried a somatic nonsense mutation. On the basis of the severity of neuromotor impairment, epilepsy, and radiological findings, correlations with the location and type of mutation were examined. Most patients with LIS1 mutations demonstrated posterior agyria (grade 3a, 55.3%) with thin corpus callosum (50%) and prominent perivascular spaces (67.4%). By contrast, patients without LIS1 mutations tended to have less severe lissencephaly (grade 4a, 41.6%) and no additional brain abnormalities. The degree of neuromotor impairment was in accordance with the severity of lissencephaly, with a high incidence of tetraplegia (61.1%). Conversely, the severity of epilepsy was not determined with the same reliability because 82.9% had early onset of seizures and 48.7% had seizures more often than daily. In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1-related lissencephaly. Our results confirm the homogeneity profile of patients with LIS1-related lissencephaly who demonstrate in a large proportion Dobyns lissencephaly grade 3a, and the absence of correlation with LIS1 mutations.Archives of neurology 09/2009; 66(8):1007-15. · 6.31 Impact Factor -
Article: Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
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ABSTRACT: Thyroid transcription factor 1 (NKX2-1/TITF1) mutations cause brain-lung-thyroid syndrome, characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The objectives of the present study were (i) detection of NKX2-1 mutations in patients with CH associated with pneumopathy and/or BHC, (ii) functional analysis of new mutations in vitro and (iii) description of the phenotypic spectrum of brain-lung-thyroid syndrome. We identified three new heterozygous missense mutations (L176V, P202L, Q210P), a splice site mutation (376-2A-->G), and one deletion of NKX2-1 at 14q13. Functional analysis of the three missense mutations revealed loss of transactivation capacity on the human thyroglobulin enhancer/promoter. Interestingly, we showed that deficient transcriptional activity of NKX2-1-P202L was completely rescued by cotransfected PAX8-WT, whereas the synergistic effect was abolished by L176V and Q210P. The clinical spectrum of 6 own and 40 published patients with NKX2-1 mutations ranged from the complete triad of brain-lung-thyroid syndrome (50%), brain and thyroid disease (30%), to isolated BHC (13%). Thyroid morphology was normal (55%) and compensated hypothyroidism occurred in 61%. Lung disease occurred in 54% of patients (IRDS at term 76%; recurrent pulmonary infections 24%). On follow-up, 20% developed severe chronic interstitial lung disease, and 16% died. In conclusion, we describe five new NKX2.1 mutations with, for the first time, complete rescue by PAX8 of the deficient transactivating capacity in one case. Additionally, our review shows that the majority of affected patients display neurological and/or thyroidal problems and that, although less frequent, lung disease is responsible for a considerable mortality.Human Molecular Genetics 04/2009; 18(12):2266-76. · 7.64 Impact Factor -
Article: The role of the corpus callosum in the perception of reversible figures in children.
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ABSTRACT: To test the role of interhemispheric competition through the corpus callosum in the perceptual alternation of reversible figures, we compared children with callosal pathology and typically developing children on a bistable stimulus task. The children with corpus callosum pathology reported significantly less changes of percepts per minute than the age-matched typically developing children. In addition, older typically developing children reported significantly more changes of percepts than the younger ones. These results support the hypothesis that the rate of reversal between two interpretations of a bistable stimulus may be partly mediated by the corpus callosum.Vision research 10/2008; 48(23-24):2451-5. · 2.29 Impact Factor -
Article: Spectrum of epilepsy in terminal 1p36 deletion syndrome.
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ABSTRACT: Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion. Based on clinical charts, we retrospectively analyzed the evolution of both the EEG findings and seizures. Epilepsy occurred in 53 patients (58.2%), with onset at a median 2.75 months. First seizures were generalized tonic (8 cases), tonic and clonic (6) or myoclonic (12), simple partial (6), or complex partial (14). Thereafter, 20 patients (21.9%) developed infantile spasms with hypsarrhythmia, at a median age of 5 months. High doses of oral steroids were tried in nine cases, with a prompt remission of seizures in six. Among them, five were seizure-free at the time of evaluation. Conversely, two of three nonresponders to steroids developed severe and refractory epilepsy. At the time of evaluation, 32 patients were seizure-free, from a median age of 1.8 years. Nineteen patients (20.9%) had developed refractory epilepsy with polymorphic seizures, including generalized tonic and tonic-clonic seizures (13) combined with myoclonic seizures (11) and atypical absences (3), atonic seizures (2), or complex partial seizures (3). The EEG showed focal, multifocal or generalized spikes, polyspike, and waves, with poverty of the usual background rhythmic activities. Early epilepsy is a frequent finding in 1p36 deletion syndrome with infantile spasms as of the most common features that can contribute to a poor clinical outcome. Early diagnosis and management of infantile spasm in this condition is mandatory.Epilepsia 04/2008; 49(3):509-15. · 3.96 Impact Factor -
Article: Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
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ABSTRACT: We have recently reported a missense mutation in exon 4 of the tubulin alpha 1A (Tuba1a) gene in a hyperactive N-ethyl-N-nitrosourea (ENU) induced mouse mutant with abnormal lamination of the hippocampus. Neuroanatomical similarities between the Tuba1a mutant mouse and mice deficient for Doublecortin (Dcx) and Lis1 genes, and the well-established functional interaction between DCX and microtubules (MTs), led us to hypothesize that mutations in TUBA1A (TUBA3, previous symbol), the human homolog of Tuba1a, might give rise to cortical malformations. This hypothesis was subsequently confirmed by the identification of TUBA1A mutations in two patients with lissencephaly and pachygyria, respectively. Here we report additional TUBA1A mutations identified in six unrelated patients with a large spectrum of brain dysgeneses. The de novo occurrence was shown for all mutations, including one recurrent mutation (c.790C>T, p.R264C) detected in two patients, and two mutations that affect the same amino acid (c.1205G>A, p.R402H; c.1204C>T, p.R402C) detected in two other patients. Retrospective examination of MR images suggests that patients with TUBA1A mutations share not only cortical dysgenesis, but also cerebellar, hippocampal, corpus callosum, and brainstem abnormalities. Interestingly, the specific high level of Tuba1a expression throughout the period of central nervous system (CNS) development, shown by in situ hybridization using mouse embryos, is in accordance with the brain-restricted developmental phenotype caused by TUBA1A mutations. All together, these results, in combination with previously reported data, strengthen the relevance of the known interaction between MTs and DCX, and highlight the importance of the MTs/DCX complex in the neuronal migration process.Human Mutation 12/2007; 28(11):1055-64. · 5.69 Impact Factor -
Article: Early neurological phenotype in 4 children with biallelic PRODH mutations.
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ABSTRACT: Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neurological and extraneurological defects. The PRODH gene is located in the region deleted in velocardiofacial syndrome (VCFS). Heterozygous and homozygous mutations have been identified in patients with variable hyperprolinemia and various features (patients with schizophrenia, chromosome 22q11 microdeletions and/or neurological defects). A functional study has divided the PRODH missense mutations into three groups: those leading to mild, moderate, or severe reduction of POX activity. In this study, we report four unrelated children with HPI and a homogeneous severe neurological phenotype. We identified biallelic abnormalities in PRODH in these patients that led to severe reduction of POX activity. These included missense and non-sense mutations, deletions of PRODH and a 22q11 microdeletion. Four other children have been reported with severe biallelic PRODH mutations. The phenotype of these eight patients associates early psychomotor development delay with predominant cognitive defects, autistic features and epilepsy. Their values of hyperprolinemia ranged from 400 to 2200 micromol/L. Patients with biallelic PRODH alterations resulting in severely impaired POX activity had an early onset and severe neurological features. Thus, children with this phenotype and those with a microdeletion in chromosome 22q11, especially those with mental retardation and autistic features, should be tested for hyperprolinemia. Hyperprolinemic patients should be screened for PRODH mutations.Brain and Development 11/2007; 29(9):547-52. · 2.12 Impact Factor -
Article: Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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ABSTRACT: Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3'-->5' exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P=.001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified.The American Journal of Human Genetics 10/2007; 81(4):713-25. · 10.60 Impact Factor -
Article: Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?
Epilepsia 04/2007; 48(3):612-3. · 3.96 Impact Factor -
Article: [Changes in prenatal ultrasound practices after the Perruche decision and Law no. 2002-303 dated 4 March 2002].
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ABSTRACT: The aim of this study was to evaluate the effects of French law (court rulings in the Perruche decision and its progeny as well as the statute enacted on March 4, 2002 to reverse or moderate this jurisprudence) on physicians' prenatal diagnosis and fetal medicine practices. We sent questionnaires to 186 physician-ultrasonographers in two French districts, inquiring about changes in their daily practice and their provision of information to and communication with the future parents, as well as their opinions about the future of their specialization. We received 54 responses (29%): 40% of respondents found it more difficult to tell patients about fetal anomalies. Written and oral information, medical reports and explanations about the limitations of ultrasound have improved substantially in content for 64% and are better used for 42%. Some clinicians (24.1%) report that they take the future parents' emotions into account more often. Some try to be more distant (13%) or more neutral (9.3%). More than half (51.9%) request the opinion of a center for prenatal diagnosis and fetal medicine more often and 20.4% request karyotyping more often. In all, 7.4% believe that their counseling now leads more often towards abortions. Although practitioners had an extremely negative perception of the case law and some were also unhappy with the new statute, these did lead to the reorganization and formalization of their practices. We can see that judicial decisions taken in a specific, individual situation can change collective practices and influence--or even overturn--public health strategies. The respondents' intention to take parents' emotions into account suggests they will find a common language to communicate with them. It is nonetheless necessary to organize a nationwide debate about the objectives of fetal ultrasound.La Presse Médicale 11/2006; 35(10 Pt 1):1467-74. · 0.67 Impact Factor -
Article: Agenesis of the corpus callosum and the establishment of handedness.
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ABSTRACT: The goal of this study was to check whether an isolated agenesis of the corpus callosum, detected in utero with ultrasound recording, would impair the early development of unimanual and bimanual handedness. Twelve infants with isolated agenesis of the corpus callosum, either total (TACC) or partial (PACC) were tested for handedness at the end of their first year, and were compared to infants with typical development (TD), matched for age and sex. A majority of infants showed right-handedness at the unimanual grasping tasks, with no significant difference between the TD and ACC groups. When the object was presented to the left, the TACC infants were more likely to grasp the object with their right hand (with or without the left hand) than both the TD and the PACC infants who used mostly the ipsilateral left hand. The only significant difference between TD and ACC infants concerned bimanual coordination, as less ACC infants (especially TACC) succeeded at the bimanual task, compared with TD infants. In addition, the strategy of the former tended to be less right-handed than that of the latter. Our results confirm the role of the CC in bimanual coordination, indicating that the early emergence of bimanual coordination and, if confirmed, bimanual handedness, are likely to be delayed in the absence of corpus callosum, especially if agenesis is total. They do not support the idea that the CC is necessary for the early onset of handedness.Developmental Psychobiology 10/2006; 48(6):472-81. · 2.98 Impact Factor -
Article: Decision making concerning life-sustaining treatment in paediatric nephrology: professionals' experiences and values.
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ABSTRACT: In a previous article, we studied decisions to withhold or withdraw life-sustaining treatment (LST) taken between 1995 and 2001 in 31 French-speaking paediatric nephrology centres. Files were available for 18 of the 31 centres. A grid was used to analyse the criteria on which decisions were based, and the results were enriched by an analysis of interviews with the doctors at these centres (31 interviews with doctors from the 18 centres). The goal was to describe in detail and to specify the criteria on which decisions to withhold or withdraw LST were based, in cases extracted from the files. The second paper deals exclusively with the interviews with doctors and analyses their lifetime's experience and perception. We carried out semi-directed interviews with nephrologists from all the paediatric nephrology centres in France and the French-speaking regions of Switzerland and Belgium. We interviewed 46 paediatric nephrologists. Most were aware that decisions relating to LST are necessary and based on the assessment of the child's quality of life. According to them, decisions are not based on scientific criteria, but on the capacity to accept handicap, the family's past experiences and the doctor's own projections. They report that their task is particularly difficult when their action may contribute to death (withdrawal of treatment or acceleration of the process). They feel that their duty is to help the families in the acceptance of the doctors' decision rather than to encourage their participation in the decision-making process (DMP). This article shows that paediatric nephrologists differ in their opinions, mostly due to their own ethical convictions. This observation highlights the need to establish common rules taking into account the views held by doctors. This is the only way to establish an ethical code shared by professionals.Nephrology Dialysis Transplantation 01/2006; 20(12):2746-50. · 3.40 Impact Factor -
Article: MRI of the fetal posterior fossa.
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ABSTRACT: MRI is a useful tool to complement US for imaging of the fetal posterior fossa (PF). In France, the discovery of a PF malformation in the fetus frequently leads to termination of pregnancy (80% in a personal series). However, despite improved accuracy in the diagnosis of PF abnormalities, prognosis remains uncertain. The first objective of this review is to document the normal MRI landmarks of the developing fetal PF. Because of their thinness, the visibility of the cerebellar fissures is dramatically delayed on MRI compared to macroscopic data. An important landmark is identification of the primary fissure of the vermis, normally seen at around 25-26 weeks' gestation (WG) on the sagittal slice, separating the larger posterior lobe from the anterior lobe (volume ratio around 2:1). The prepyramidal and secondary fissures are usually only identifiable after 32 WG and the hemispheric fissures are difficult to see until the end of pregnancy. Considering the signal changes, high signal on T2-weighted (T2-W) sequences is seen from 25 WG in the posterior part of the brain stem (tegmentum and ascending sensory tracts) related to myelination. The low signal intensities seen within the cerebellum on T2-W images correspond to high cellularity of grey matter (deep nuclei), as there is no myelination within the white matter before 38 WG. The second objective is to highlight the signs highly predictive of a poor neurological prognosis. Lack of pontine curvature or vermian agenesis without a PF cyst (small volume of PF) is greatly associated with poor neurological status. The third objective is to propose a diagnostic strategy in difficult cases where prognosis is important, e.g. the Dandy Walker continuum. Analysis of the cerebellum is often impossible if a PF cyst is present (whatever its nature) as the mass effect usually blurs the foliation and even impairs evaluation of the normal ratio between the posterior and anterior lobes of the vermis. Isolated cerebellar hypoplasias raise the question of prognosis and genetic counselling. Such uncertainties require an amniocentesis and a careful search for other anomalies (cerebral and extracerebral). Unilateral abnormalities of a cerebellar hemisphere can be associated with good neurological status if they are isolated. The final objective is to discuss other rare PF fetal abnormalities, such as vascular malformations and tumours.Pediatric Radiology 03/2005; 35(2):124-40. · 1.67 Impact Factor
Top co-authors
Top Journals
Institutions
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2011–2012
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Hôpital Armand-Trousseau – Hôpitaux universitaires Est Parisien
Paris, Ile-de-France, France
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2003
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Hôpital Saint-Vincent-de-Paul – Hôpitaux universitaires Paris Centre
Paris, Ile-de-France, France
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