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Biomedical subjects

M L Moutard

Publications and source records attributed to M L Moutard.

At least 19 recordsLinked to original sources
PubMed2005

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

BACKGROUND: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1). METHODS: A genome-wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded. Higher density genotyping in regions of interest was also undertaken using the 10 mapping pedigrees and seven additional AGS families. RESULTS: Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14-21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768. The AGS2 locus lies within a 4.7 cM region as defined by a 1 LOD-unit support interval. CONCLUSIONS: We have identified a second AGS disease locus and at least one further locus. As in a number of other conditions, genetic heterogeneity represents a significant obstacle to gene identification in AGS. The localisation of AGS2 represents an important step in this process.

Basal Ganglia Diseases↗
PubMed2004

[Indications of electroencephalogram in the newborn].

The electroencephalogram (EEG), an easy-to-use and non invasive cerebral investigation, is a useful tool for diagnosis and early prognosis in newborn babies. In newborn full term babies manifesting abnormal clinical signs, EEG can point focal lesions or specific aetiology. EEG background activity and sleep organization have a high prognostic value. Tracings recorded over long period can detect seizures, with or without clinical manifestations, and differentiate them from paroxysmal non epileptic movements. The EEG should therefore be recorded at the beginning of the first symptoms, and if possible before any seizure treatment. When used as a neonatal prognostic tool, EEG background activity is classified as normal, abnormal (type A and type B discontinuous and hyperactive rapid tracing) or highly abnormal (inactive, paroxysmal, low voltage plus theta tracing). In such cases, the initial recording must be made between 12 and 48 h after birth, and then between 4 and 8 days of life. Severe EEG abnormalities before 12 h of life have no reliable prognostic value but may help in the choice of early neuroprotective treatment of acute cerebral hypoxia-ischemia. During presumed hypoxic-ischemic encephalopathy, unusual EEG patterns may indicate another diagnosis. In premature newborn babies (29-32 w GA) with neurological abnormalities, EEG use is the same as in term newborns. Without any neurological abnormal sign, EEG requirements depend on GA and the mother's or child's risk factors. Before 28 w GA, when looking for positive rolandic sharp waves (PRSW), EEG records are to be acquired systematically at D2-D3, D7-D8, 31-32 and 36 w GA. It is well known that numerous and persistent PRSW are related to periventricular leukomalacia (PVL) and indicate a bad prognosis. In babies born after 32 GA with clinically severe symptoms, an EEG should be performed before D7. Background activity, organization and maturation of the tracing are valuable diagnosis and prognosis indicators. These recommendations are designed (1) to get a maximum of precise informations from a limited number of tracings and (2) to standardize practices and thus facilitate comparisons and multicenter studies.

Electroencephalography↗
PubMed2003

Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

PURPOSE: To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt DNA mutation. PATIENTS AND RESULTS: The first sign was, at the end of the first year of life, IS in one case and the combination of IS with behavior changes in the two other cases. Video EEG polygraphy demonstrated both spasms and hypsarrhythmia, but no other kind of seizures. Vigabatrin or steroids controlled the spasms with a follow-up of several years. All 3 patients had hyperlactatorrhachia (3.47 to 7 mmol/l). Axial hypotonia and dystonia appeared by the end of the first year of life. As in cases with the NARP mutation and onset later in life, neuropathy and retinopathy could also be demonstrated. DISCUSSION: Although it is well established that symptomatic IS with hypsarrhythmia mainly result from cortical lesions, this epileptic encephalopathy may also be generated by lesions in the basal ganglia without evidence of cortical damage. This finding suggests that West syndrome is likely to be caused by age-related dysfunction at any level of a cortico-putaminal loop of hyperexcitability.

Adenosine Triphosphatases↗
PubMed2002

[The Perruce decree, an opportunity to question the acceptance of a handicap and the relationship between physicians, justice and society].

The 'Perruche' decree (confirmed by the Paris Court of Cassation in November 2001) recognizes the right of those born with a handicap to claim for compensation. However, there is a fear that this decree might lead to deviations in the requests submitted for systematic compensation, simply because of a handicap or prejudice, even in the absence of a medical error. The interest of the 'Perruche' decree is that it once again raises the question of the management of handicapped people in our society and the lack of sufficient help from the State. The decree also emphasizes the strong subjacent risk that a handicap could be considered as a failure or a medical error. The excessive ideology of a 'perfect' child may therefore provoke the reject of the idea that a human being may be born with a deficiency or "imperfection". It also reminds us that medical practice remains exposed to errors and incertitude and that a zero risk does not exist, contrary to certain fantastical beliefs fostered by the principle of precaution. The hazard may correspond to the notion of incertitude. But it must not be confused with an error and it implies that which is unforeseeable. It is important that physicians stall the faith in the power of ultramodern techniques. Conversely, they should not claim a right to systematic error, when errors in fact hide authentic faults. The medical discourse must therefore remain responsible.

Congenital Abnormalities↗
PubMed2002

[Prenatal diagnosis of isolated posterior fossa anomalies: attempt at a simplified approach].

The authors suggest, after some embryological, anatomical and nosological reviews, a simplified approach mainly based on the appearance of the pons, cerebellar hemispheres and vermis, independently from an associated cystic dilatation of the posterior fossa. Pontocerebellar hypoplasias and partial or total vermian agenesis are detailed because they can be diagnosed with a prenatal MRI. This classification based on our experience and on the literature data should be of value to evaluate the neurological prognosis.

Cranial Fossa, Posterior↗
PubMed2001

Pontoneocerebellar hypoplasia: definition of MR features.

We report five patients with pontoneocerebellar hypoplasia. Because the issue of cerebellar malformations is a difficult subject, we tried to define criteria for diagnosis on MRI: a thin flat pons with disappearance of the anterior curve, a small cerebellum with predominant flattening of the hemispheres and shortened cerebellar fissures, in contrast to atrophy. The posterior fossa is not enlarged. We emphasize the probable late onset of the disease in fetal life because of the demonstration of the abnormalities at US during the last trimester of the pregnancy in one patient. Prenatal diagnosis is important because of possible autosomal recessive transmission.

Cerebellum↗
PubMed1999

Changes in electroencephalogram and autonomic cardiovascular activity during induction of anesthesia with sevoflurane compared with halothane in children.

BACKGROUND: This study was design to assess clinical agitation, electroencephalogram (EEG) and autonomic cardiovascular activity changes in children during induction of anesthesia with sevoflurane compared with halothane using noninvasive recording of EEG, heart rate, and finger blood pressure. METHODS: Children aged 2-12 yr premedicated with midazolam were randomly assigned to one of three induction techniques: 7% sevoflurane in 100% O2 (group SevoRAPID); 2%, 4%, 6%, and 7% sevoflurane in 100% O2 (group SevoINCR); or 1%, 2%, 3%, and 3.5% halothane in 50% N2O-50% O2 (group HaloN2O). An additional group of children who received 7% sevoflurane in 50% N2O-50% O2 (group SevoN2O) was enrolled after completion of the study. Induction was videotaped. EEG, heart rate, and finger blood pressure were continuously recorded during induction until 5 min after tracheal intubation and analyzed in frequency domain using spectral analysis. RESULTS: Agitation was more frequent when anesthesia was induced with 100% O2 compared to the mixture of oxygen and nitrous oxide. No seizures were recorded in any group. In the four groups, induction of anesthesia was associated with an increase in EEG total spectral power and a shift toward the low-frequency bands. Sharp slow waves were present on EEG tracings of the three sevoflurane groups, whereas slow waves and fast rhythms (spindles) were observed in the halothane group. Sevoflurane induced a greater withdrawal of parasympathetic activity than halothane and a transient relative increase in sympathetic vascular tone at loss of eyelash reflex. CONCLUSIONS: Agitation observed during sevoflurane induction was not associated with seizures. Sevoflurane induction induced a marked inhibition of parasympathetic control of heart rate.

Anesthesia, Inhalation↗
PubMed1998

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited in a single pedigree with lissencephaly, a more severe disease which affects the male individuals. This clinical entity has been described as X-SCLH/LIS syndrome. Recently we have demonstrated that the doublecortin gene, which is localized on the X chromosome, is implicated in this disorder. We have now performed a systematic mutation analysis of doublecortin in 11 unrelated females with SCLH (one familial and 10 sporadic cases) and have identified mutations in 10/11 cases. The sequence differences include nonsense, splice site and missense mutations and these were found throughout the gene. These results provide strong evidence that loss of function of doublecortin is the major cause of SCLH. The absence of phenotype-genotype correlations suggests that X-inactivation patterns of neuronal precursor cells are likely to contribute to the variable clinical severity of this disorder in females.

Abnormalities, Multiple↗
PubMed1998

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

X-linked mental retardation (XLMR) is a genetically and clinically heterogeneous common disorder. A cumulative frequency of about 1/600 male births was estimated by different authors, including the fragile X syndrome, which affects 1/4000 males. Given this very high cumulative frequency, identification of genes and molecular mechanisms involved in other XLMRs, represents a challenging task of considerable medical importance. In this report we describe clinical and molecular investigations in the family of a mentally retarded boy for whom a microdeletion in Xp21.3-22.1 was detected within the frame of a previously reported systematic search for deletion using STS-PCR screening. Thorough clinical investigation of the sibling showed that two affected brothers exhibit a moderate non-specific mental retardation without any additional neurological impairment, statural growth deficiency or characteristic dysmorphy. Molecular analysis revealed that the microdeletion observed in this family is an inherited defect which cosegregates with mental retardation as an X-linked recessive condition, since both non-deleted boys and transmitting mother are normal. These results and the inherited microdeletion detected within the same region associated with non-specific MR, reported by Raeymaekers et al., suggest that Xp21.3 MR locus is prone to deletions. Therefore, search for microdeletions in the eight families assigned by linkage analysis to this region might allow a better definition of the critical region and an identification of the gene involved in this X-linked mental retardation.

Child↗
PubMed1998

[Prognosis of isolated agenesis of the corpus callosum].

We report preliminary results of a three year follow-up of ten children affected with apparently isolated corpus callosum agenesis (prenatal diagnosis). This population was collected from a multicenter prospective study: annual survey included physical examination, developmental outcome and psychometric evaluation. Febril convulsions appeared to be more frequent than in the general population; developmental outcome was normal at the last evaluation. Follow-up has to be performed up to 10 years to determine more accurately prognosis of isolated corpus callosum agenesis.

Agenesis of Corpus Callosum↗
PubMed1997

A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.

We report an interesting case of a T8993G mutation in the muscle mtDNA of a 2-year-old girl who presented with myoclonia, developmental delay, increased lactate concentration in CSF and cerebral MRI abnormalities without retinopathy, suggesting an atypical form of Leigh syndrome. Search for mutant molecules in the blood and skin fibroblasts of the patient's healthy mother as well as in the blood of the also unaffected patient's sister was unsuccessful. This "sporadic' case of 8993 mtDNA mutation may be due either to a de novo mutation arising during oogenesis (or early embryogenesis) or to a mutation pre-existing in oocytes in a few mtDNA molecules and selected through a narrow bottleneck mechanism. Whatever the mechanism involved, this observation illustrates a complete shift of the mtDNA type in only one generation: from 0 to nearly 100% of mtDNA molecules with the T8993G mutation.

Child, Preschool↗
PubMed1997

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females. Here we report an exclusion mapping study carried out in three unrelated previously described families in which males are affected with lissencephaly and females with SCLH, using 38 microsatellite markers evenly distributed on the X chromosome. Most of the X chromosome was excluded and potential intervals of assignment in Xq22.3-q23 or in Xq27 are reported. Although the number of informative meioses did not allow a decision between these two loci, it is worth noting that the former interval is compatible with the mapping of a breakpoint involved in a de novo X;autosomal balanced translocation 46,XX,t(X;2)(q22;p25) previously described in a female with classical lissencephaly. In addition, haplotype inheritance in two families showed a grandpaternal origin of the mutation and suggested in one family the presence of mosaicism in germline cells of normal transmitting males.

Adult↗
PubMed1996

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. The genetic and phenotypic heterogeneity exclude any possibility of pooling families and, therefore, of fine-mapping the related disease genes. In order to identify genomic critical regions involved in the MRX condition assigned to Xp21.3-22.1 region, we have implemented the PCR screening of non fragile X MR patients for the presence of deletions in this region. The amplification by PCR of 12 markers located between POLA and DXS704 using genomic DNA from 192 MR males led to the identification, in a 9 year old mentally retarded boy, of a microdeletion which extends from DXS1202 to DXS1065. None of the known genes, POLA, MAGE genes cluster, DAX1, GK and DMD, that map in the Xp21.3-22.1 region is affected by this deletion. This approach, which could easily be applied to several other MRX loci, allowed not only a confirmation of the presence of a potential locus in Xp21.3-22.1 involved in non-specific mental retardation, but also a better definition of the genomic critical region corresponding to this locus.

Child↗
PubMed1995

[Use of intravenous midazolam in status epilepticus in children].

BACKGROUND: Status epilepticus is usually treated by benzodiazepines such as diazepam or clonazepam in association with phenytoin and phenobarbital. Midazolam (MDZ) is a recently developed short-elimination half-life benzodiazepine. CASE REPORTS: Four children, aged 3 days to 4 years, were hospitalized in the pediatric intensive care unit for life-threatening illness and developed status epilepticus. They were given an i.v. bolus dose of 300 to 500 micrograms/kg of MDZ immediately followed by a continuous i.v. infusion at the dose of 100 to 300 micrograms/kg/h. All seizures stopped within 1 hour after the bolus dose administration. No acute adverse events of MDZ were noted. Withdrawal symptoms in one patient were controlled by progressive reduction of MDZ doses. Neurologic sequelae were noted in three children, secondary to their primitive illness. CONCLUSIONS: High doses of MDZ are effective for treating refractory status epilepticus; optimal dosage and duration of treatment remains to be determined.

Anti-Anxiety Agents↗
PubMed1992

[Acquisition of bladder control in children].

Urinary control in Child occurs during the first five years of life; the first step is daytime control, quickly followed by nocturnal dryness. The bladder is mature when the child is able to initiate micturition at any degree of bladder filing and to differ or inhibit voiding at anytime. Micturition control depends on central nervous system maturation but training by parents is also important. Voiding dysfunction may occur if those mechanisms fail or are delayed: different pathologic patterns can be seen, such as daytime incontinence and enuresis or nonneurogenic neurogenic bladder if dyssynergia is associated.

Child↗
PubMed1989

[Post-transfusion cerebrovascular hemorrhagic complications disclosing homozygote sickle cell anemia].

A case of bipolar and relapsing cerebrovascular hemorrhages with hypertension is reported in a 7 year-old Gabonese girl. These strokes were the first sign of a sickle cell disease. Mechanisms of cerebral hemorrhages in sickle cell disease are reviewed and similarities with the "hypertension, convulsion and cerebral hemorrhage after transfusions "syndrome reported by Wasi et al. in thalassemic patients are underlined.

Anemia, Sickle Cell↗