Partial acute transverse myelitis is a predictor of multiple sclerosis in children.

BACKGROUND: Acute transverse myelitis (ATM) in children is a rare and often severe disease for which there are few known prognostic factors, particularly the subsequent risk of multiple sclerosis (MS) diagnosis. OBJECTIVES: To determine the clinical course and prognostic factors after a first episode of ATM in children. METHODS: Thirty children below 16 years of age diagnosed with a first neurological episode of ATM were included retrospectively. Clinical evaluation, treatment, laboratory, and MRI data were collected. RESULTS: Median age at onset was 11 years (range 3-15 years). Follow-up data were available for a median of 4 years (range 0.5-16.7 years). Five patients subsequently had a diagnosis of MS (17%), which was associated with acute partial transverse myelitis (odds ratio 5; 95% confidence interval 2.3-11), with a 60% probability of having a relapse at five years (p < 0.01). The 2011 Verhey criteria correctly identified MS in children with the highest specificity (96%) and sensitivity (80%). CONCLUSION: Acute partial transverse myelitis and brain MRI abnormalities at initial presentation are significantly predictive of a subsequent diagnosis of MS in children with ATM. These findings suggest that closer brain MRI monitoring after acute partial transverse myelitis might make the earlier introduction of disease-modifying therapies possible.

[Description and results of a prospective study on a new physiotherapy method in the management of postprostatectomy urinary incontinence]. / Description et résultat d'une étude prospective portant sur une nouvelle méthode de kinésithérapie dans la prise en charge de l'incontinence urinaire postprostatectomie.

OBJECTIVE: Prospective evaluation of the short-, medium- and long-term efficacy of the "ABDO-MG concept" technique in the rehabilitation of urinary incontinence following radical prostatectomy (abdominal or laparoscopic approach). METHODOLOGY: Fifty-three patients suffering from clinical urinary stress or triple incontinence (pure stress incontinence, incontinence due to bladder instability or sphincteric insufficiency) took part in the study. Rehabilitation treatment, begun six weeks before the operation, continued during the immediate postoperative period, at home and at the physiotherapist's office for three to 12 months until the urinary incontinence had disappeared or was considered to be minimal and acceptable, therefore tolerated. The exercises were performed according to a strict protocol defined by the inventor of the concept, involving expiration into a specific end-piece (called "sound end-piece") and connection with an abdominal neurostimulator for which the current is triggered and maintained by the sound of the patient's breathing into the sound end-piece. The efficacy of this concept was confirmed by a comparative trial before and during rehabilitation and then at the end of treatment. There was triple monitoring: evaluation by LFT noting, for each breath, the flowrate/volume curve and FEV1/s, clinical abdominal testing with monitoring of abdominal movement both vertically and horizontally during coughing and a "pad test" at home, assessing the quantity of nocturnal and diurnal urinary leakage relative to each patient's activity. RESULTS: The results were meaningful and significant. The improvement of the flowrate/volume curve and FEV1/s varied between 1.4436 and 1.1209 L. Abdominal testing showed constant positive evolution in the correction of abdominal incompetence under stress (test improved by one point on a negative graduation of -1 to -3). The home "pad test" confirmed a highly significant result with leakage virtually disappearing, sometimes falling from nearly 800 cc to just a few drops at the end of treatment. The subjective results were marked by the improvement in various dysfunctions within the context of abdominal incompetence increased by the abdominal surgery. CONCLUSION: This prospective study was the first to provide an evaluation of the abdominal motor score and the relationship between expiration thrust and pelviperitoneal protection.

[Non epileptic paroxysmal movement disorders in childhood]. / Mouvements anormaux paroxystiques non épileptiques de l'enfant.

Paroxysmal movement disorders are not uncommon in childhood, but are probably under-recognised. Paroxysmal movement disorders are a distinctive group of disorders that represents various clinical situations, characterised by intermittent and episodic disturbances of movement. Diagnosis relies on semiological analysis, mainly based on parental description of the manifestations; video recording (during an EEG-video monitoring or home made video) are often helpful to establish the correct diagnosis. In the large majority of the cases, paroxysmal movement disorders are benign situations. Some of them are transient, as they spontaneously stop over time (benign torticolis of infancy, paroxysmal tonic upgaze). Being familiar with these disorders will lead to accurate diagnosis, so avoiding useless investigations. Most of the time, no treatment will be required, and the families will be informed of the good prognosis.

[Genetics contribution to the understanding of autism]. / Apport de la génétique à la compréhension de l'autisme.

Autism is a pervasive developmental disorder characterised by an impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominent in autism pathogenesis, in contrast with the environmental factors that would modulate the phenotype. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism.

Benign infantile epilepsy with autosomal dominant inheritance.

Benign cryptogenic infantile epilepsy occurred in 6 infants of 3 families, with similar characteristics suggesting a common physiopathology: onset between 3 and 12 months of age, clusters of brief generalized seizures easily controlled by anti-epileptic drugs, normal psychomotor development, usually normal EEG with, rarely, generalized interictal spike-waves, no recurrence after drug discontinuation, the treatment being no longer than 16 months in most cases. Identical histories were found in parents, uncles and aunts, suggesting an autosomal dominant mode of inheritance. This seems to correspond to an original form of early onset, benign infantile epilepsy.

Epileptic electroencephalographic abnormalities and developmental dysphasias: a study of 32 patients.

The relationships between severe developmental dysphasias and epilepsy were analysed in 32 patients with congenital dysphasias. The mean age was 8 years 2 months; 19 of 32 had never had seizures; 9 had had occasional seizures; 4 were epileptic. Twenty-two of 32 had normal repeated standard EEGs, but 10 (2 of which never had seizures) showed epileptic interictal discharges. During prolonged EEG after sleep deprivation, epileptic abnormalities were observed in 13 of the 32 cases (4 of which never had seizures). The overall night sleep recordings showed epileptic abnormalities in 30 of the 32 cases (17 of which had never had seizures). The epileptic interictal abnormalities varied considerably in intensity and aspect in the same patient from one examination to another. Developmentally aphasic children show a higher incidence of abnormal EEG than expected, particularly during overall night recordings. In most cases, the physiopathology of the language disturbance might be identical to that in Landau-Kleffner syndrome.

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. Awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. Diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.

[Are idiopathic generalized epilepsies of childhood really benign?]. / Les épilepsies généalisées idiopathiques de l'enfant sont-elles bénignes?

Most of the idiopathic generalized epilepsies are considered as benign in childhood. Using literature data and some personal investigations, we screened the cognitive impairment and school difficulties observed in children with idiopathic generalized epilepsies, especially absence epilepsies, myoclonic epilepsies considered as non-severe, and generalized epilepsies with tonico-clonic seizures. In a controlled study concerning typical absence epilepsy, we have shown a lack of high or moderately elevated level of non-verbal and total IQ scores on Wechsler's tests (WISC III); we also observed a significant impairment of memory, a lengthening of school realisations, concerning motor skills and alertness and also hyperactivity and/or attention disorders, concerning 35 to 50% of cases. Most of these children present with school difficulties, of variable degree. These results show that the term "benign" is not appropriate in many cases of so-called benign idiopathic generalized epilepsies.

[The varied etiologies of childhood-onset dystonia]. / Les dystonies de l'enfant: étiologies et stratégie diagnostique.

Dystonia is not uncommon in childhood, and identification of its etiology is an ultimate aim in the clinical evaluation of dystonia. Advances in neuroimaging, recent identification of gene or loci implicated in dystonic syndromes, and characterisation of new pathological entities (creatine deficiency, biotin-responsive basal ganglia disease) enlarge our understanding of childhood dystonia, and expend its diagnosis spectrum. Awareness of the diverse etiologic categories of childhood-onset dystonia is necessary to accurate diagnosis approach. Clinical examination and cerebral magnetic resonance imaging are the keys of this diagnosis approach. Primary dystonia is defined as syndromes in which dystonia is the sole phenotypic manifestation (especially no cognitive deterioration is observed, and brain MRI is normal); DYT1 dystonia, in which the abnormal gene is located on chromosome 9, is the most frequent childhood-onset primary dystonia; progressive generalisation of the abnormal movements occur in 70p.cent of the patients. Dopa - Responsive Dystonia are characterized by marked diurnal fluctuations of the dystonic symptoms and by their marked and sustained response to dopaminergic therapy; associated parkinsonian signs are usually observed later in the course of the disease. Clinical presentation of DRD might be atypical (mimicking cerebral palsy or isolated limb pain without diurnal fluctuation). DRD is rare, but a trial of L-dopa should be performed on all patients with childhood-onset dystonia, lasting at least one month. Secondary dystonias or heredodegenerative diseases are the most frequent etiology of childhood-onset dystonic syndromes. Among a huge range of heredodegenerative disease, those that are amenable to a specific treatment, such as Wilson's disease or creatine deficiency, should be particularly investigated. The main objective of investigation of dystonia is to identify secondary dystonias or heredodegenerative diseases. Further investigations will be performed according to the clinical characteristics of the dystonia, to the presence of associated neurological or extraneurological symptoms, and according to brain imaging; this approach must be discussed for each single patient. The aim of the diagnosis strategy is the rapid identification of the etiology of dystonia which will lead to accurate treatment and pertinent genetic counselling.

[Movement disorders in childhood: classification and genetic update]. / Mouvements anormaux de l'enfant : classification et aspects génétiques.

Abnormal movements are not unusual in childhood. Recent genetic progresses provide a new approach of childhood movement disorders. Several loci have been identified in paroxysmal dyskinesia, or in Gilles de la Tourette syndrome. A gene has been cloned in Hallervorden-Spatz syndrome, and a gene has recently been implicated in benign hereditary chorea. Considerable advances concern the genetic of dystonic syndromes: several chromosomal localizations have been identified, and several genes have been cloned. Genetic advances allow nosographic reclassification of some entities and offer new molecular tools for a more appropriate diagnosis. The increasing wealth of genetic knowledge will provide further insight in the understanding of abnormal movement disorders in childhood.

[Benign familial infantile convulsions]. / Les convulsions familiales bénignes du nourrisson.

Benign familial infantile convulsion is a syndrome recently identified among the epileptic seizures of infancy. The main characteristics are: occurrence before one year of age, brief epileptic bursts of partial type seizures with secondary generalization, excellent prognosis with normal mental and motor development, high familial incidence. This syndrome appears genetically heterogeneous.

[Movement disorders in childhood: therapeutic update]. / Mouvements anormaux de l'enfant: nouveautés thérapeutiques.

Abnormal movements are not uncommon in childhood. Due to the severity of the abnormal movements or to the functional disability, a medical treatment is often required; the wide range of available pharmacological molecules and the absence of therapeutic consensus highlight the limited efficacy of the medical treatment on dystonic or athetoid movements, or severe tic disorders. The recent identification of the enzymatic defect implicated in metabolic diseases led to the development of specific treatment for newly recognized disorders, with more or less interesting results (creatine ou biotine supplementation). Recent progress in functional neurosurgery opened new fields in the treatment of movement disorders. Intrathecal baclofen was proved effective in the treatment of secondary dystonia, especially in patients with cerebral palsy. Deep brain stimulation is now an established therapy for patients with a generalized dystonic syndrome. Given the successful results of pallidal stimulation in dystonia, the indication of this procedure has been discussed in other types of abnormal movements.

[Ectopic intraspinal extradural anaplastic ependymoma in an infant]. / Ependymome anaplasique ectopique intrarachidien extradural chez un nourrisson.

BACKGROUND: Ependymomas represent about 10% of the spinal tumors in children. Some of them may be unusually located. CASE REPORT: A 10-month-old boy was admitted for an abdominal mass syndrome with dehydration asthenia and acute bladder dysfunction. A few hours later, he developed a flaccid paraplegia. Ultrasonic and magnetic resonance spinal imaging showed a giant intraspinal tumor extending from T9 to IA level, posteriorly located to the dural compartment, widening the spinal cord. Ultrasonography also showed right ureterohydronephrosis due to the neurological bladder dysfunction. A conservative laminotomy-laminoplasty was performed in emergency. Total removal of the tumor that was attached to the right dorsal root was achieved extradurally, requiring resection of the proximal part of the root. Histological features were typical of malignant ependymoma. Chemotherapy was initiated 2 weeks later. The severe renal destruction and the persistent bladder dysfunction led to a heminephrectomy and a cystostomy, 3 weeks later. The neurological recovery was only partial with a follow-up of 18 months. CONCLUSION: Ectopic intraspinal extradural localization of ependymomas is rare and their development from a nerve root is exceptional.

[Treatment of epilepsy in children]. / Traitement de l'épilepsie de l'enfant.

The general principles of treatment of epilepsies in children are summarized: control of seizures without compromission of the physical or intellectual capabilities of the patients, owing to normal family and social life. The basic principles of drug treatment, the choice and monitoring of antiepileptic drugs, and the place of the electroencephalogram are discussed.

Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria.

Six of nine children born from first-cousin parents presented with the same clinical picture: non-progressive congenital encephalopathy with marked hypertonia resembling the stiff-baby syndrome, delayed milestones, mental deficiency and congenital deafness. Rare, usually reversible, episodes of sudden worsening of the neurological status, with progressive loss of consciousness and increase of hypertonia, occurred spontaneously or during febrile illnesses. During these periods, and sometimes on other occasions, transitory renal dysfunction was observed (nephrotic syndrome and/or tubular abnormalities). Death occurred before age 2 years in 4 patients; 2 are still alive (10 and 13 years old). Electrophysiological, biological and enzymatic investigations remained negative, particularly those concerning mitochondrial and peroxisomal metabolism. The only biochemical anomaly was a massive hyperkynureninuria, seen only during the periods of coma (up to 213 mumol/mmol creatinine; normal < 10) and after an intravenous protein loading test. This suggests an anomaly of tryptophan metabolism which has not been reported up to now.

[Use of diazepam in the preventive home treatment of recurrent febrile convulsions]. / Utilisation du diazépam dans le traitement préventif à domicile des récidives de convulsions fébriles.

Parents with children who had presented with a simple febrile convulsion were advised to give their children rectal diazepam, in case of fever. The results (21 families with an average follow-up of 2 years) were compared with those in two groups of controls. The efficacy and inocuousness of prophylactic treatment are remarkable. However, its indication should be more precisely stated, after a better information of families and practitioners, since the expected effect on familial apprehension was not satisfactorily obtained.

[Rett syndrome. A report of fifteen cases]. / Le syndrome de Rett. A propos de quinze observations.

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.

Hemimegalencephaly and neurofibromatosis.

Hemimegalencephaly, which previously has been associated with a poor clinical course characterized by intractable seizures and severe encephalopathy, was found without these conditions in two children with neurofibromatosis. These children showed relatively similar and favourable prognostic features: no presence of seizures before one month, seizures controlled or absent, no focal neurological signs and peculiar EEG findings. In our opinion the absence of heterotopias and hamartomas can be related with less severe outcome.