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P Landrieu

Publications and source records attributed to P Landrieu.

At least 19 recordsLinked to original sources
PubMed2005

[Spectacular neurologic manifestations after mild head trauma: retrospective study on 51 children].

UNLABELLED: Mild head traumas, as a rule, remain a- or paucisymptomatic. In a few cases however, spectacular manifestations develop despite absence of intracerebral lesion. POPULATION, METHODS: We have studied retrospectively 51 such children and contacted their family in order to clarify the follow-up. RESULTS: The dominant symptoms allowed to categorize the following situations: syncope-like loss of consciousness (11 cases), seizures (6), severe headaches with neurologic signs (15), confusion (8), visual disorders (6), amnesic ictus (5). Recurrences were possible but benign: in 8/11 children in the group "syncopes", in 1/6 in the group "seizures", in 5/21 in the 4 other groups. In the latter 4 groups, 11/21 children developed common migraine. Except for the only case who developed epilepsy later on, scholarship was normal in the 25 cases with sufficient follow-up. DISCUSSION: Beside syncopes and seizures, the long-lasting episodes suggested a migrainous pathogeny, perhaps at a maturative stage where the trigger of migrainous mechanism is at a low level in the brain. CONCLUSION: The mildness of the knock, the normality of CT scan including when the symptoms are present and the normality of both consciousness and examination once the symptoms have disappeared allow to avoid further investigations.

Adolescent↗
PubMed2004

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.

Spinal Muscular Atrophy with Respiratory Distress (SMARD) is an autosomal recessive disorder characterized by neurogenic muscular atrophy due to progressive anterior horn cell degeneration and early life-threatening respiratory failure ascribed to diaphragmatic dysfunction. SMARD is clinically and genetically heterogeneous. SMARD type 1 is characterized by onset of respiratory failure within the first weeks of life and has been ascribed to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A>G (p.Gln196Arg), c.647C>T (p.Pro216Leu), c.752T>C (p.Leu251Pro), c.1693G>A (p.Asp565Asn), c.1730T>C (p.Leu577Pro), c.1807C>T (p.Arg603Cys), c.1909C>T (p.Arg637Cys)] and two nonsense mutations [ c.1488C>A (p.Cys496X), c.2368C>T (p.Arg790X)]. Interestingly, 7 of 9 mutations occurred at highly conserved residues of the putative DNA helicase domain. The identification of novel IGHMBP2 variants will hopefully help diagnosing SMARD1 and contribute to a better functional characterization of IGHMBP2 gene product.

Alleles↗
PubMed2004

[Neonatal thrombosis of the jugular veins: long-term repercussions on cerebral development (two cases)].

Bilateral obstruction of the internal jugular veins is rare in the neonatal period and no long-term follow-up has been reported yet. We report two cases. The first developped an extensive thrombosis of superior veina cava related to a central veinous line, the second an unilateral thrombosis of the transverse-sigmoid sinus associated to a constitutional hypoplasia of the contralateral jugular vein. In the latter case, no cause or risk factor was noticeable, except for a forceps delivery. In both cases the clinical course was dominated by the development of a prominent collateral network of cervico-facial veins and by a progressive macrocrania. According to MRImaging, the latter was not related to a dilation of CSF spaces, but to a macro-encephaly, either by inflation of the vascular veinous compartment inside the parenchyma or by genuine brain's overgrowth. Long-term follow-up showed a grossly normal course, both from the neurological and the scholar point of view. However, slight neuropsychological anomalies were noticed, bringing some shade on the prognosis.

Brain↗
PubMed2004

Phoneme perception in a neonate with a left sylvian infarct.

We report the case of a neonate tested three weeks after a neonatal left sylvian infarct. We studied her perception of speech and non-speech stimuli with high-density event-related potentials. The results show that she was able to discriminate not only a change of timbre in tones but also a vowel change, and even a place of articulation contrast in stop consonants. Moreover, a discrimination response to stop consonants was observed even when syllables were produced by different speakers. Her intact right hemisphere was thus able to extract relevant phonetic information in spite of irrelevant acoustic variation. These results suggest that both hemispheres contribute to phoneme perception during the first months of life and confirm our previous findings concerning bilateral responses in normal infants.

Cerebral Infarction↗
PubMed2003

[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach].

The developmental characteristics of the cerebellum, including its histogenesis which persists well beyond birth, explain, at least in part,why the mechanisms of cerebral disorders of infancy remain equivocal. The nosology of certain congenital ataxias, especially those with cerebellar hypoplasia, remains ambiguous, at the crossroads between early degenerative disease and congenital non-progressive anomalies. We have revisited the clinical approach to the most frequent situations: (1) the careful dysmorphology work-up must search for any element of various recognizable syndromes, especially those transmitted by autosomal recessive inheritance. An update of list of such syndromes is provided. (2) Cerebellum imaging must be obtained as early as possible and re-documented with a long-term follow-up. Emerging 3D techniques should help improve morphological evaluation. (3) One the contrary, a complex biochemical work-up, looking for metabolic diseases, is required only when the clinical and radiological evaluations provide unusual data. (4) Mental status is always the most relevant element of prognosis. t is frequently compromised, including in congenital non-progressive ataxia with normal imaging. Beyond the classical strategies, the genetic approach must take into consideration possible phenotypic homologies with natural or experimental animal models. This approach is illustrated by the recent discovery of mutations with the human homolog of the Reeler gene in a subset of cerebellar agenesis associated with other dysgenetic elements.

Animals↗
PubMed2002

Critical illness neuromuscular disease: clinical, electrophysiological, and prognostic aspects.

BACKGROUND: Critical illness neuromuscular disease, which has been recognised as a distinct clinical entity in adults, remains poorly described in children. AIMS: To assess retrospectively the clinical, electrophysiological, and prognostic features of the disease. METHODS: Retrospective study in a children's university hospital. RESULTS: Five critically ill patients presented with generalised paralysis, associated with long lasting failure to breathe in three. The cause of the generalised paralysis was critical illness neuropathy in two, acute myopathy in two, and mixed neuromyopathy in one. CONCLUSIONS: Neuromuscular disease should be suspected in critically ill children with muscle weakness. Because corticosteroids and muscle relaxants appear to trigger some types of intensive care unit neuromuscular disease in children, their use should be restricted or administered at the lowest doses possible.

Adolescent↗
PubMed2002

[Encephalopathy associated with severe bacterial infections: "presuppurative encephalitis" or "toxi-infectious disorder"?].

Three children are reported, exhibiting encephalopathic symptoms in the course of a severe bacterial infection, though they had no sign of intracranial purulent collection nor metabolic disturbances: the first was associated with a appendicular peritonitis, the second with a purulent knee arthritis, the third with a pneumoccus septicemia. The elements are reviewed that favor either a true septic encephalitis, i.e. microscopic presuppurative foci, versus a toxiinfectious process, either by direct action of toxins or through intracerebral activation of pre-inflammatory cytokines. Whatever the mechanism involved in individual cases, the treatment is mainly based on prompt administration of the convenient antibiotics.

Adolescent↗
PubMed2001

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Central core disease (CCD) is an autosomal dominant congenital myopathy. Diagnosis is based on the presence of cores in skeletal muscles. CCD has been linked to the gene encoding the ryanodine receptor (RYR1) and is considered to be an allelic disease of malignant hyperthermia susceptibility. However, the report of a recessive form of transmission together with a variable clinical presentation has raised the question of the genetic heterogeneity of the disease. Analyzing a panel of 34 families exclusively recruited on the basis of both clinically and morphologically expressed CCD, 12 different mutations of the C-terminal domain of RYR1 have been identified in 16 unrelated families. Morphological analysis of the patients' muscles showed different aspects of cores, all of them associated with mutations in the C-terminal region of RYR1. Furthermore, we characterized the presence of neomutations in the RyR1 gene in four families. This indicates that neomutations into the RyR1 gene are not a rare event and must be taken into account for genetic studies of families that present with congenital myopathies type 'central core disease'. Three mutations led to the deletion in frame of amino acids. This is the first report of amino acid deletions in RYR1 associated with CCD. According to a four-transmembrane domain model, the mutations concentrated mostly in the myoplasmic and luminal loops linking, respectively, transmembrane domains T1 and T2 or T3 and T4 of RYR1.

Adult↗
PubMed2001

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a deficient activity of the enzyme mevalonate kinase (MK) resulting from mutations in the encoding MVK gene. Thus far, disease-causing mutations only could be detected by analysis of MVK cDNA. We now describe the genomic organization of the human MVK gene. It is 22 kb long and contains 11 exons of 46 to 837 bp and 10 introns of 379 bp to 4.2 kb. Three intron-exon boundaries were confirmed from natural splice variants, indicating the occurrence of exon skipping. Sequence analysis of 27 HIDS and MA patients confirmed all previously reported genotypes based on cDNA analysis and identified six novel nucleotide substitutions resulting in missense or nonsense mutations, providing new insights in the genotype/phenotype relation between HIDS and MA.

Alternative Splicing↗
PubMed2001

Arthrogryposis and multicystic encephalopathy after acute fetal distress in the end stage of gestation.

The natural history of the rare association "multicystic encephalopathy-arthrogryposis" was traced in a fetus carefully followed after artificial insemination. The fetus exhibited normal viability and brain morphology up to the 32nd week. At 36 weeks, active movements diminished and at 37 weeks, hydramnios and signs of fetal distress led to cesarean section. The infant presented with severe arthrogryposis of the limbs and spine, but not with the other elements of a long-lasting akinesia. US showed multicystic encephalopathy. Both the clinical and the neuropathological findings established that multicystic encephalopathy was neither the cause nor the sequential consequence of the fetal akinesia, but the result of a recent diffuse, acute malacic process that also involved the anterior horn cells. Acute fetal distress, responsible for major ischemic damage to CNS but compatible with fetal survival, remains an obscure condition which allows for the development of severe arthrogryposis in a few weeks.

Anterior Horn Cells↗
PubMed2001

Respiratory chain deficiency in Alpers syndrome.

Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid and severe developmental delay, intractable seizures and liver involvement in a previously healthy child. Here, we report on respiratory chain enzyme deficiency in the liver of four unrelated children presenting with epileptic encephalopathy and liver involvement diagnosed as Alpers syndrome. Interestingly, oxidative phosphorylation in skeletal muscle was normal in 4/4 and blood and CSF lactate in 3/4 patients. Liver involvement had a late clinical onset in patients with previously isolated epileptic encephalopathy. Based on these observations, we suggest 1. to give consideration to respiratory chain deficiency in the diagnosis of severe epileptic encephalopathy in childhood, even when no clinical or biological evidence of liver involvement or lactic acidosis is noted, and 2. to investigate the respiratory chain in a needle biopsy of the liver in children with epileptic encephalopathy prior to valproate administration if biochemical indications for respiratory chain disease or hepatic disturbance are noted, as this drug is believed to occasionally trigger hepatic failure and fatal outcome.

Atrophy↗
PubMed2001

Efficacy of high dose steroid therapy in children with severe acute transverse myelitis.

No effective treatment has been demonstrated for patients with acute transverse myelopathy. In a multicentre controlled study, 12 children with severe acute transverse myelopathy were treated with intravenous methylprednisolone (IVMP) and compared with a historical group of 17 patients. The treatment had a significant effect on the proportion of patients walking independently at 1 month and on the proportion with full recovery at 1 year, with no differences in the frequency of complications between the two groups.

Adolescent↗
PubMed2000

[What is new in pediatric neurology?].

Some significant advances in the field of pediatric neurology are reviewed. For many constitutional disorders, concepts and diagnostic procedures have progressed from various genetic techniques or from protein labeling in situ. Many neurodegenerative disorders, some poorly-defined metabolic diseases, and several syndromes associating mental retardation with neurologic or extraneurologic malformations have been characterized. In addition, for many disorders viewed as 'poorly specific' (mental retardation, epilepsy, migraine), familial forms have permitted us to define the first genes involved. In 'acquired' disorders, new data come from clinical trials (antiepileptic, anti-inflammatory drugs) rather than definite conceptual advances. Finally, clinics and biology are no longer the only approaches to brain functions, and clinical neurophysiology could encounter a second wind thanks to the techniques of functional imaging, especially in the fields of developmental neuropsychology.

Anti-Inflammatory Agents↗
PubMed2000

[Epilepsy presenting as life-threatening events in infants].

OBJECTIVE: This study was aimed at assessing the frequency and features of epilepsy presenting as life-threatening events in infancy. PATIENTS AND METHODS: Fifteen cases were collected over eight years. Subtle symptoms suggestive of epilepsy were rare (9/15) in the retrospective analysis; the clinical context and cerebral imaging were occasionally contributive (5/15); interictal EEG was useful but inconstantly contributive, including when the epileptic nature of the episodes had become clinically probable (10/15). Though it had no clear relationships with epileptic episodes but contributed to mislead diagnosis, gastroesophageal reflux was frequently associated. Uncovered epilepsies were not homogeneous, ranging from severe epileptic encephalopathy to benign epilepsy of infancy. CONCLUSION: Epilepsy presenting as life-threatening events is sometimes a diagnostic challenge. When an infant develops recurrent critical episodes during a several-week follow-up, with neurological and general investigations not providing more information, the immediate success of antiepileptic treatment might support diagnosis.

Critical Illness↗