High-risk syndrome for neuromyelitis optica: a descriptive and comparative study.

BACKGROUND: Neuromyelitis optica (NMO) frequently begins with a monofocal episode of optic neuritis or myelitis. A concept named high-risk syndrome (HRS) for NMO has been proposed for patients with monofocal episodes and NMO-IgG antibodies. OBJECTIVE: To describe HRS patients and compare them with NMO patients. METHODS: We identified 30 patients with HRS: 18 with extensive myelitis (HRM) and 12 with optic neuritis (HRON), in a database pooling patients from 25 centres in France. Clinical, laboratory/magnetic resonance imaging (MRI) data and outcome were analysed and compared with a national cohort of 125 NMO patients extracted from the same database. RESULTS: Mean follow-up was 4.8 years. Mean age at onset was 42.8 years (range: 12.4-70) with a female:male ratio of 0.9. Asymptomatic lesions were report on visual evoked potentials in 4/8 tested HRM patients and on spinal cord MRI in 2/7 HRON patients. Three patients died, two owing to a cervical lesion. HRS and NMO patients had similar clinical/paraclinical data, except for a predominance of men in the HRS group and a later mean age at onset in the HRM subgroup. CONCLUSION: The description of HRS patients is compatible with a monofocal form of NMO. Asymptomatic lesions could be included in a new set of NMO diagnostic criteria.

[Pain and early stage of multiple sclerosis]. / Douleur et sclérose en plaques au stade précoce.

Since the last decade, many clinical and epidemiologic studies have shown the frequency of pain among patients with multiple sclerosis (MS) and its impact on everyday life, perceived health, social interactions and employment. Quite all of these studies have included patients with long duration of MS. However the clinical experience often confronts neurologists with the painful handicap of patients with recently diagnosed MS. The objective of this review was to review the literature while emphasizing data which could lead to a better knowledge of the frequency, the type and the impact of pain at the early stage of MS.

[Tuberous sclerosis without mental impairment, diagnosed in adulthood]. / Sclérose tubéreuse de Bourneville sans altération intellectuelle, diagnostiquée à l'âge adulte.

INTRODUCTION: Tuberous sclerosis complex (TSC) is an autosomal dominant inherited phakomatosis, usually diagnosed in childhood and characterized by cutaneous and neurological tumors, the latter often leading to epilepsy and mental retardation. EXEGESIS: We report a case of TSC diagnosed in a 33-year-old man, without any known family history of phakomatosis, presenting with facial angiofibromas, hypomelanotic macules, a giant-cell astrocytoma and retinal phakomas without any mental impairment or epilepsy. CONCLUSION: TSC may occur in patients who do not have any family history of phakomatosis because de novo mutations are frequent. TSC may be diagnosed in adulthood since a high phenotypic variability is observed. Facial angiofibromas are highly suggestive of tuberous sclerosis complex. They should lead to brain imaging in search for astrocytoma, subependymal nodules and cortical tubers which number is directly correlated with the risk of seizures and the degree of mental impairment.

Classification of diabetes in patients with end-stage renal disease. Validation of clinical criteria according to fasting plasma C-peptide.

An epidemiologic study of end-stage diabetic nephropathy in France (Uremidiab) was performed, aiming to establish the prevalence of both types of diabetes in dialysis patients. Because discrimination between type I and type II diabetes remains mostly clinical, our aim was to evaluate what the most fitted clinical criteria were. We studied 494 hemodialyzed diabetic patients. A first classification (Cn) was offered by the nephrologist. Clinical data of 472 patients (22 patients of the 494 have been excluded) were then collected with a standardized questionnaire, allowing one diabetologist of us to establish the diagnosis of type of diabetes (classification Cd). Plasma C-peptide at this stage of the disease was expected to be very discriminative, measured in 88 patients and defined classification Ccp (< or = 0.6 ng/ml = "negative C-peptide" = type I, > 0.6 ng/ml = "positive C-peptide" = type II). Classification Cd observed 98 type I and 374 type II diabetes. Cn overestimated type I diabetes, 37% of type II diabetes being misclassified because insulin-treated. Classification Ccp observed 74 positive C-peptide patients, classified as type II, among whom 45 were insulin-treated. Only 3 patients were discordant for classification Cd and Ccp. Predictive value of "negative C-peptide" and "positive C-peptide" were 100% and 96% respectively. Multiple regression analysis of the Ccp classification was performed with the clinical criteria and showed very significant correlation with: age at the time of diagnosis of diabetes (AGE), maximal body mass index ever reached (BMI MAX) and delay between diagnosis and consistent insulin use (DI).(ABSTRACT TRUNCATED AT 250 WORDS)

[Rehabilitation management in neurologic follow-up of the multiple sclerosis patient]. / La prise en charge rééducative dans le suivi neurologique du patient SEP.

New immunomodulatory treatments of Multiple Sclerosis lead to considerable changes in the doctor-patient relationship. Today the neurologist must become involved in comprehensive management of MS patients. He/She must become familiar with the specific methodology of assessment in rehabilitation, and especially with the measurement of disability. Some specific measures have been developed in this field, i.g. the Functional Independence Measure (FIM). Although no significant change was demonstrable on neurological status decline as measured by EDSS in progressive phase, several recent controlled studies have demonstrated the efficacy of inpatient or outpatient rehabilitation programs, when assessment was based on disability, handicap and quality of life measurement. We emphasized the neurologist's role in determining adequate timing for rehabilitation according to the course of disease and therapeutic choices, but also in the setting of patient-centered functional goals for rehabilitation program.

[Ataxic hemiparesis caused by a thalamic lacuna]. / Hémiparésie ataxique par lacune thalamique.

A 64 year old man was admitted for an ataxic hemiparesis. Magnetic resonance imaging (MRI) suggested a lacunar infarct. The lesion was located in the postero-lateral part of the contralateral thalamus, sparing the internal capsule.

[Isolated ipsilateral lateropulsion caused by bulbar hematoma]. / Latéropulsion ipsilatérale isolée par hématome bulbaire.

A case of hematoma involving probably the reticular formation of the medulla oblongata is reported. Examination showed a soft palate paresis and an ipsilateral axial lateropulsion without vertigo or oculomotor disorders. The mechanism of the lateropulsion is discussed. During the spontaneous recovery a transient hydrocephalus was observed.

[Magnetic resonance imaging in horizontal oculomotor paralysis caused by infarction]. / L'imagerie par résonance magnétique dans les paralysies de l'oculomotricité horizontale par infarctus.

Four patients with focal brainstem ischemic strokes and various types of horizontal oculomotor disturbances have been studied clinically and radiologically. One had a six nerve palsy, one a unilateral internuclear ophthalmoplegia, one a Fisher's one-and-a-half syndrome, and one a paramedian pontine reticular formation syndrome with a sixth nerve palsy. In all patients a C.T. Scan and a Magnetic Resonance Imaging (MRI) were obtained. The MRI study was performed on a CGR Magniscan 5000 with a superconducting magnet of 0.5 Tesla. In all patients a hypersignal in T2 weighted images was shown and corresponded to the brainstem infarct. MRI allowed accurate delineation of the lesion and clinico-radiologic correlations in three patients. But the low specificity of MRI does not permit to distinguish edema from necrosis, gliosis or demyelination in a region with a pathological MRI signal. In one patient this low specificity and perhaps partial volume effects decreased the accuracy of the clinico-topographic correlation.

[Magnetic resonance imaging in multiple sclerosis. Sensitivity and correlation with the clinical picture]. / L'imagerie par résonance magnétique dans la sclérose en plaques. Sensibilité et corrélations avec la clinique.

The aim of imaging the brain in Multiple Sclerosis (MS) is to prove the dissemination of lesions, so critical for the diagnosis and so difficult to ascertain clinically. Our study included 21 patients with clinically definite (12) and probable (9) MS. A 21 patients underwent a neurological standard examination, a double-dose delayed CT scan and a Magnetic Resonance Imaging with a superconducting 0.5 Tesla magnet. Jointed slices were performed with a T2-weighted Spin-Echo sequence (TE 60, 120; TR 2000 msec). MRI detected 640 lesions in 20 patients while CT scan detected only 24 lesions in 9 patients. Technical limiting factors are discussed. Abnormalities in MRI were high-intense spots, blotches and streaks, located predominantly in the periventricular area. Capping lesions were common around the ventricular horns. "Plaques" were visualized in the posterior fossa. For each patient, the total surface of the lesions was calculated and was found to be related with the presence of lesions and with the cortical atrophy on CT scan. A correlation between the surface of lesions calculated by MRI and the disability scale was found especially in the group of patients with clinically proven cerebral lesions, while patients with predominantly spinal forms had a significantly lower surface of lesions. This finding could yield a new quantitative evaluation of the MS pathologic process which could be used to assess therapeutic efficacy.

[Magnetic resonance imaging and laterobulbar infarction]. / Imagerie par résonance magnétique et infarctus latérobulbaire.

Six patients with a clinical diagnosis of lateral medullary infarction have been studied by CT scan and Magnetic Resonance Imaging (MRI). The MRI study was performed on a CGR Magniscan 5000 with a superconducting magnet of 5 Tesla. In all patients T2 weighted images (TR = 2000, TE 60, 120) in joined section of 9 or 6 mm thickness were obtained in the axial plane. Three patients were also studied in T1 weighted sequences (TR = 500, TE = 28). A lateral medullary infarct was shown in 5 patients. MRI findings were consistent with a hemorrhagic infarct in one case. Occlusion of a vertebral artery was suggested in 2 cases and was confirmed by angiography. In 3 cases, an associated ipsilateral cerebellar infarct was demonstrated. The CT scan had only shown bleeding in the medulla oblongata in the hemorrhagic infarction case, and a cerebellar infarction in another case. Some clinical manifestations are discussed with regard to the results of MRI. MRI appears as the best current method to improve clinico-topographic correlations in medullary infarcts.

[Left anterior choroidal artery syndrome with language disorders and constructional apraxia]. / Syndrome de l'artère choroidienne antérieure gauche avec troubles du langage et apraxie constructive.

The infarction in the territory of the anterior choroidal artery may induce a sensory motor impairment and neuropsychological symptoms close to those observed in some thalamic lesions. In a right handed man with a left sided infarction, language disturbances and constructional apraxia were observed. Cerebral blood flow measurements were performed 4 days after the stroke with the 133Xenon inhalation method. A decrease of mean hemispheric values was observed on both sides but more so on the left hemisphere, in the left frontoparietal regions. 98 days after the stroke language and constructional apraxia have partially improved. We have drawn a parallel between blood flow variations and neuropsychological signs. The cortical deafferentation caused by the interruption of the thalamo-cortical projections may explain the focalized decrease in cerebral blood flow values in the left hemisphere.

Neuromyelitis optica in France: a multicenter study of 125 patients.

BACKGROUND: There have been few epidemiologic studies on neuromyelitis optica (NMO) and none used the recent 2006 diagnostic criteria. Here we describe the clinical, laboratory, MRI, and disability course of NMO in a French cohort of 125 patients. METHODS: We performed an observational, retrospective, multicenter study. Data were collected from September 2007 through August 2008, corresponding to the endpoint of the study. We identified 125 patients fulfilling the 2006 NMO criteria. Selection was made using hospital files and a specific clinical questionnaire for NMO. RESULTS: Mean age at onset was 34.5 years (range 4-66) with a mean disease duration of 10 +/- 7.8 years at the endpoint. The patients were mainly (87%) Caucasian, with a female:male ratio of 3:1. In 90% of cases, the association of optic neuritis, longitudinal extensive myelitis, and a Paty-negative initial brain MRI was sufficient to fulfill the supportive criteria. Eighty-eight percent of patients were treated with immunosuppressive therapies. Median delay from onset to Expanded Disability Status Scale (EDSS) score 4 was 7 years; score 6, 10 years; and score 7, 21 years. The first episode of myelitis was immediately followed by an EDSS score > or = 4 in 37.3% of cases, and a severe residual visual loss was observed in 22% of patients after the first episode of optic neuritis. Multivariate analysis did not reveal any predictors of a poor evolution other than a high number of MRI brain lesions at diagnosis, which were predictive of a residual visual acuity < or = 1/10. CONCLUSIONS: Our demographic data provide new data on disability in patients with neuromyelitis optica, most of whom were receiving treatment.

Assessment of handicap in chronic dialysis diabetic patients (Uremidiab section study).

As part of a large epidemiological study concerning 494 diabetic patients undergoing dialysis throughout France--the so-called Uremidiab section study--we collected data with the aim of describing objective as well as subjective aspects of quality of survival. Questionnaires were completed from medical records and from direct interviews by trained collectors. The data included: (a) medical status and impairments; (b) functional status with the Barthel index for basic activities of daily living; (c) subjective aspects through self-estimation of fatigue, pain, care burden, quality of life and working capacity. Only 21% of the patients had type 1 diabetes and more than 71% were currently insulin-treated. Among the various long-term complications registered, visual impairment was a prominent feature: 25% of the patients were blind and the best eye vision scored 0.8 or more for only 20%. The differences found between the two types of diabetes are discussed. As a result of these impairments, functional status was poor even when considering basic activities, with a mean Barthel index (BI) of 80 +/- 19. Type 2 patients and those patients undergoing continuous ambulatory peritoneal dialysis had significantly lower BI. The results are discussed in the light of the literature. Compared with a group of 121 non-dialyzed diabetics, patients scored higher for fatigue and pain, but not for care burden and quality of life.

Pure sensory stroke due to a pontine lacune.

A 53-year-old hypertensive man presented with the sudden onset of an isolated lemniscal sensory syndrome of the entire left side of his body. Magnetic resonance images showed a small lacune in the right paramedian pons corresponding to the location of the medial lemniscus.

Diabetes mellitus prevalence among dialysed patients in France (UREMIDIAB study).

The prevalence of diabetes mellitus among patients treated for end-stage renal failure was studied using a questionnaire mailed to all dialysis units of mainland France in 1989. With a response rate of 80.8%, the study population amounted to 12,903 dialysed patients of whom 884 were declared diabetic (6.9%). In a second phase, the study focused on the diabetic patients treated in the 63 largest units (those with at least four diabetic patients). Seven specially trained physicians completed questionnaires after having interviewed the patients and checked their medical records. All this material was reviewed by the same diabetologist. The conflict of diabetes type declared by both sources of information (the nephrologists and the diabetologist) showed a misclassification rate of 31.2%. Using these new data, the prevalence of type 1 diabetes mellitus was estimated at 1.4% of patients on dialysis therapy in mainland France, and 5.5% for type 2 diabetes mellitus. A north-south declining trend was suggested for type 2 diabetes mellitus. Diabetic nephropathy was the only primary renal diagnosis among 93.9% of type 1 diabetic patients, but only for 36.8% of type 2 diabetic patients. Of the latter, 51.6% had a non-diabetic cause of renal failure. These data show that the proportion of diabetics among patients receiving dialysis, while steadily increasing in France, remains lower than in other countries in Europe and in North America. However, the validity of international comparisons depends on diabetes ascertainment. Heterogeneity in selection of patients and in diabetes type classification by dialysis units may account to a considerable degree for the differences between diabetes mellitus prevalence across countries.

Prospective study of lacunar infarction using magnetic resonance imaging.

Using computed tomography and magnetic resonance imaging, we prospectively studied 100 patients hospitalized with a lacunar infarct. Our aim was to evaluate the capabilities of magnetic resonance imaging in the detection and delineation of lacunes in a project of clinicotopographic correlations. Seventy-nine patients had a classic lacunar syndrome; 35 had pure motor stroke, 26 had ataxic hemiparesis, seven had sensorimotor stroke, and 11 had pure sensory stroke. A miscellaneous group of 21 patients had less typical lacunar syndromes, primarily with brainstem signs and symptoms. Among a total of 153 lacunes, magnetic resonance imaging detected at least one lacune appropriate to the symptoms in 89 patients. In 16 patients at least two lesions correlated with the clinical features, and precise clinicotopographic correlations were possible in 68 patients. Magnetic resonance imaging was more effective when it was performed a few days after the stroke. Lesions causing different types of lacunar syndromes had significantly different volumes, suggesting that the size of the lesion may influence clinical features. Magnetic resonance imaging may be the imaging technique of choice in the study of lacunar syndromes.

Occupational environment as risk factor for unemployment in multiple sclerosis.

INTRODUCTION: Few studies have examined the factors of occupational environment related to unemployment in multiple sclerosis (MS). MATERIAL AND METHODS: A case control-study was carried out. Cases were patients unemployed for less than five years before the study (n = 77); controls were patients currently employed (n = 94). The odds ratios of the relationship under study adjusted for sex, age, disease form and educational level, were estimated. RESULTS: Employment in the public sector, sedentary jobs and possibility of obtaining specific improvements in the work environment were found to be protective factors, while jobs needing force, rigid work schedule, manual precision, frequent moves and a daily work duration over 8 h were found as risk factors. Multivariate analyses showed that the only remaining factors were public sector jobs as protective factor (OR = 0.4), and strenuous work as risk factor (OR = 4.5). Factors were slightly different in male and female patients. CONCLUSION: This study suggests that simple and early changes in the occupational environment could maintain MS patients at work.

Magnetic resonance imaging and the "one-and-a-half" syndrome: a case report.

A patient is described who had magnetic resonance imaging (MRI) findings of a left paramedian pontine ischemic stroke. It was associated with right motor sensory and left cerebellar dysfunction and the "one-and-a-half" syndrome of Fisher.