J. Pouget

Multifocal motor neuropathy with and without conduction block A single entity

Objective: To assess if multifocal motor neuropathy (MMN) with and MMN without conduction block (CB) are similar or distinct diseases. Methods: The authors reviewed the clinical features and responses to IV immunoglobulin (IVIg) treatment of patients with MMN with and without CB at diagnosis, after 4 years of follow-up and at the last examination. They included all patients showing clinical features of MMN who had been followed for at least 4 years: All had asymmetric purely motor weakness with a peripheral nerve distribution, without any sensory, bulbar, or respiratory signs and without any upper motor neuron involvement. Results: Twenty patients had CB and 13 had no CB. Median follow-up time was 7 years. There were no differences between the two groups in term of age, sex, time from onset to diagnosis, anti-GM1 antibody titers, or CSF data. Nerve distribution, number of affected limb regions, predominant weakness in distal upper extremities, asymmetric weakness, cramps, fasciculations, and Medical Research Council sum-scores in upper and lower limbs were comparable at diagnosis, 4 years of follow-up, and last examination. Few significant differences were observed. Involvement of median nerve was less frequent at 4 years of follow-up (14/20 vs 4/13; p = 0.027) and at the last examination (17/20 vs 5/13; p = 0.009) in patients without CB. Proximal weakness was less frequent in patients with MMN without CB at the last examination (7/20 vs 0/13; p = 0.027). Fewer nerves were involved in patients without CB at the last examination (4.5 vs 2; p = 0.04). Efficacy of IVIg was similar in MNN patients without CB (8/13) and with CB (14/20; p > 0.05). Conclusion: After a median follow-up time of 7 years, patients with and without conduction block showed similar clinical features and a similar response to IV immunoglobulin treatment.

Neonatal lower motor neuron syndrome associated with maternal neuropathy with anti-GM1 IgG

The authors report a newborn with motor neuropathy associated with anti-GM1 antibodies from an affected mother. This finding suggests that the disorder was due to transplacental transfer of pathogenic antibodies.

Le syndrome de l’homme raide : formes cliniques, traitement et profil évolutif

Resume Introduction Le syndrome de l’homme raide est une maladie neurologique rare, sous-diagnostiquee, connue depuis une cinquantaine d’annees et caracterisee par une raideur musculaire axiale, des spasmes douloureux et des contractions musculaires incontrolables du tronc et des membres inferieurs. Materiel et methode Les caracteristiques des formes cliniques de cette affection sont detaillees a propos de trois patientes presentant chacune une forme clinique differente. Resultats L’analyse de ces observations et de celles de la litterature permet de rappeler les criteres cliniques et electromyographiques du diagnostic, et le profil evolutif des trois principales formes cliniques : syndrome de l’homme raide, syndrome des jambes raides et encephalomyelite progressive avec rigidite. La physiopathologie est encore incompletement connue, mais les nombreux stigmates d’auto-immunite orientent vers une reponse auto-immune a un auto-antigene. Il existe des etiologies paraneoplasiques associees a des anticorps anti-amphiphysine dans les trois formes cliniques, mais plus frequemment dans l’encephalomyelite. Conclusion Les recentes donnees de la litterature permettent une meilleure identification des patients atteints de syndrome de l’homme raide et ont permis d’etablir une strategie therapeutique adaptee ameliorant la qualite de vie. Le traitement actuel repose principalement sur les medicaments interagissant avec le GABA et les immunoglobulines intraveineuses.

Neuropathies motrices multifocales avec blocs de conduction, profil évolutif sous immunoglobulines intraveineuses

Resume Introduction Les neuropathies motrices multifocales avec bloc de conduction sont des neuropathies auto-immunes dont le traitement de reference est la realisation de perfusions regulieres d’immunoglobulines intraveineuses. Le pronostic a long terme sous immunoglobulines intraveineuses reste controverse. Notre objectif etait d’analyser l’evolution clinique et electrophysiologique des neuropathies motrices multifocales avec bloc de conduction et de determiner des facteurs predictifs d’une reponse aux immunoglobulines intraveineuses a long terme. Methodes Nous avons etudie retrospectivement les patients presentant une neuropathie motrice multifocale avec blocs de conduction traites par immunoglobulines intraveineuses et suivis depuis plus de 4 ans. Etaient analyses les donnees cliniques, les scores MRC et les resultats des etudes electrophysiologiques a la premiere et a la derniere evaluation. Resultats Dix-sept patients furent inclus avec une duree moyenne de suivi de 8 ans (4-18). Au dernier examen, le deficit demeurait moteur pur, asymetrique et predominait aux membres superieurs. Trois profils evolutifs etaient isoles a long terme : 6/17 patients etaient ameliores et restaient en remission apres l’arret du traitement, 6/17 patients etaient initialement ameliores mais devenaient dependants des immunoglobulines intraveineuses et 5/17 patients n’avaient jamais repondu aux immunoglobulines intraveineuses. Il n’existait pas de difference significative entre les scores MRC, le nombre de bloc de conduction et l’amplitude moyenne des potentiels moteurs distaux des nerfs medians et cubitaux obtenus a la premiere et la derniere evaluation. L’augmentation des scores MRC sous immunoglobulines intraveineuses n’etait pas correlee aux differentes variables cliniques, biologiques et electrophysiologiques que nous avions analysees. Conclusions Sous traitement prolonge par immunoglobulines intraveineuses, un tiers des patients est ameliore et sevre, un tiers est dependant des immunoglobulines intraveineuses et un tiers n’a pas repondu au traitement. Aucun facteur predictif d’une reponse aux immunoglobulines intraveineuses a long terme n’a ete trouve.

Dysautonomie chronique idiopathique : quand porter le diagnostic ?

INTRODUCTIONnChronic autonomic disorders may complicate a wide range of conditions which can be divided into secondary, due to specific diseases, and primary, in which no cause has been determined.nnnCASE REPORTnWe report the case of a 43-year-old woman, who presented a chronic autonomic failure, which had begun by symptomatic orthostatic hypotension. Progressively, syncopes became daily, causing considerable discomfort associated with other signs of sympathic dysfunction: unilateral Horners syndrome, diarrhea and hypohidrosis. The autonomic involvement was confirmed by study of the cardiovascular responses to tilt-up and electrophysiological autonomic testing. Etiologic search for a chronic acquired neuropathy (diabetes, amyloidis, paraneoplastic) or an inherited neuropathy was not conclusive. After five years, dysautonomic symptoms increased, but remained isolated. The physical examination did not show other clinical abnormalities such as cerebellar, pyramidal or extrapyramidal failure in favor of a multiple system atrophy or Parkinsons disease. All these data suggest the diagnosis of a primary autonomic failure.nnnCONCLUSIONnThe diagnosis of primary autonomic failure is difficult to make because it requires that all the investigations in search of an etiology are negative and a long follow-up to be sure that dysautonomic symptoms persist isolated after many years of progression.Resume Introduction Les signes de dysautonomie chronique sont presents dans de multiples affections neurologiques qui se divisent en dysautonomie secondaire ou primaire. Observation Nous rapportons le cas d’une patiente qui a presente a partir de l’âge 43 ans une hypotension orthostatique symptomatique devenant invalidante, puis accompagnee par d’autres signes d’atteinte sympathique : signe de Claude-Bernard-Horner incomplet et unilateral, diarrhee chronique, troubles de la sudation. Avec un recul de 5 ans, l’ensemble des explorations biologiques et d’imagerie n’a pas permis d’identifier une etiologie. Il n’existe aucun argument clinique pour une maladie de Parkinson ou une atrophie multi systematisee. Ainsi, l’ensemble de ces donnees fait evoquer le diagnostic d’une dysautonomie pure idiopathique d’evolution chronique. Conclusion Le diagnostic de dysautonomie chronique primitive est difficile a etablir ; il necessite de pouvoir ecarter une maladie neurologique associee par de nombreuses investigations et un long recul evolutif.

La dysautonomie dans la sclérodermie : approche quantitative chez 15 malades

Autonomic nervous system has been evaluated in 15 patients suffering from progressive systemic sclerosis. Significant abnormalities have been noted in all the patients.

Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

BACKGROUNDnSomatosensory evoked potentials (SSEPs) are increasingly performed for the assessment of peripheral neuropathies, but no practical guidelines have yet been established in this specific application.nnnSTUDY AIMnTo determine the relevant indication criteria and optimal technical parameters for SSEP recording in peripheral neuropathy investigation.nnnMETHODSnA survey was conducted among the French-speaking practitioners with experience of SSEP recording in the context of peripheral neuropathies. The results of the survey were analyzed and discussed to provide recommendations for practice.nnnRESULTSnSSEPs appear to be a second-line test when electroneuromyographic investigation is not sufficiently conclusive, providing complementary and valuable information on central and proximal peripheral conduction in the somatosensory pathways.nnnCONCLUSIONSnGuidelines for a standardized recording protocol, including the various parameters to be measured, are proposed.nnnCLINICAL RELEVANCEnWe hope that these proposals will help to recognize the value of this technique in peripheral neuropathy assessment in clinical practice.

Exercise Intolerance: Classification and Semiology

Exercise intolerance syndrome includes several symptoms or signs: myalgias, cramps, weakness or myoglobinuria following exercise and relieved by rest. It results from various abnormalities of muscle metabolism.

Les polyradiculonévrites inflammatoires démyélinisantes chroniques

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a demyelinating chronic neuropathy of immune origin whose diagnosis is based upon clinical, biological and electrophysiological data; previously critical to the diagnosis the nerve biopsy is now restricted to the rare situations where accurate diagnosis cannot be reached using these data alone. CIDP are mainly idiopathic, but a few associated diseases must be sought for as they require specific attention. Such associated diseases must particularly be discussed when the manifestations are severe or resistant to immunomodulating or immunosuppressive agents. Indeed, idiopathic CIDP are usually responsive to these treatments. The effectiveness of these treatments is limited by the importance of the secondary axonal loss. The dependence or the resistance may sometimes justify the association of several immunomodulating treatments. A single randomized controlled trial support the use of cytotoxic drugs and none with rituximab.

Diagnostic des neuropathies amyloïdes sporadiques de type héréditaire : à propos de 6 cas

We report 6 cases of sporadic amyloide polyneuropathy with mutation in the tranthyretin gene. Cardiac involvement was present in 5, and vitreous opacities in one.