Intracerebral hemorrhage in CADASIL.

BACKGROUND: Intracerebral hemorrhage (ICH) has been reported in few cases of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), mostly in hypertensive patients. We aimed to assess the clinical and radiological characteristics of patients with CADASIL who presented with ICH. METHODS: A retrospective analysis of all neuroimaging exams of CADASIL patients hospitalized in our academic neurology department for acute cerebrovascular events was performed to find ICH. A systematic review of the literature was performed on this topic. RESULTS: Including our five patients, a total number of 52 subjects with CADASIL and ICH (mean age: 56 years, SD 11, 36-69%- male) were reported. Intracerebral hemorrhages were mainly deep (34 subjects), followed by lobar (8 subjects), infratentorial (6 subjects) and mixed locations (4 subjects). Three ICHs were asymptomatic. Fourteen patients were taking antithrombotic medication, 18 had no regular antiplatelet or anticoagulant treatment while in 20 patients medical treatment was not detailed. Arterial hypertension was present in 37 out of 51 patients with available information. Neuroimaging showed extensive FLAIR hyperintensities in all CADASIL subjects with ICH, cerebral microbleeds in all but three patients, and lacunar infarction in 19 out of 25 subjects with available information. CONCLUSIONS: Intracerebral hemorrhage represents a possible yet uncommon manifestation of CADASIL and should be considered as a possibility in patients with ICH associated with leukoencephalopathy and microbleeds, even in the absence of other clinical symptoms.

[Relapse of acute promyelocytic leukemia in the central nervous system revealed by isolated dementia]. / Récidive neuroméningée d'une leucémie aiguë promyélocytaire révélée par un syndrome démentiel isolé.

INTRODUCTION: Approximately 1.5% of dementia is due to curable aetiology. We report an isolated dementia syndrome due to a meningeal relapse of acute promyelocytic leukaemia with favourable outcome after appropriate treatment. CASE REPORT: A 72-year-old woman, in remission of an acute promyelocytic leukaemia, presented a loss of autonomy for several months due to corticosubcortical dementia. Lumbar puncture showed blast cells indicating meningeal relapse of leukaemia. Intrathecal chemotherapy and arsenic trioxide obtained biological and molecular remission as well as restoration of normal cognitive functions. CONCLUSION: In patients with hematologic past history such as acute promyelocytic leukaemia, an isolated cognitive impairment should alert physicians to search for an isolated neuromeningeal relapse.

[Thrombosis risk during pregnancy after history of cerebral venous thrombosis]. / Risque thrombotique des grossesses après un épisode de thrombose veineuse cérébrale.

INTRODUCTION: Few data have been published about the prognosis of a pregnancy following an episode of venous cerebral thrombosis (CVT), and far less about preventive strategy. METHODS: This is a retrospective study of a case series of 11 pregnancies in six women who had previously presented a CVT. RESULTS: The first pregnancies after CVT occurred on average 58 months later. Prevention with aspirin or heparin was administered in ten cases during pregnancy, and in all the cases with heparin in postpartum. No recurrence of CVT was observed. A minor pulmonary embolism was diagnosed in postpartum in one case. CONCLUSION: Prognosis of a pregnancy after a CVT seems to be favourable if a sufficient delay after CVT is respected. Although no results of controlled trials are available, prophylaxis with heparin is probably reasonable as benefit seems higher than risks and is strongly advised during the postpartum period.

Bell's palsy in pregnancy: underlying HELLP syndrome or pre-eclampsia?

Bell's palsy is not uncommon during pregnancy. An association with pre-eclampsia (PE) has been reported previously. Furthermore, it has even been suggested that Bell's palsy could be a predictor of PE. We report three cases illustrating various possible aspects of this association, one of them including the features of HELLP (haemolysis, elevated liver enzymes, and low platelets) syndrome.

Study of accessory deep peroneal nerve motor conduction in a population of healthy subjects.

AIM OF THE STUDY: The short extensor muscle of the toes (extensor digitorum brevis) is innervated by the deep peroneal nerve (DPN) but can also receive innervation from an accessory deep peroneal nerve (ADPN), a branch of the superficial peroneal nerve (SPN). PATIENTS AND METHODS: We conducted a systematic electrophysiological study of the DPN and ADPN in 200 healthy subjects (400 legs). RESULTS: We found the presence of an ADPN in 13.5% of the subjects (8.5% of the legs). On average, ADPN amplitudes and motor potential areas were one-fifth of those for the corresponding DPN. Without this systematic search, most of the ADPN would not have been detected. Comparative study of electrophysiological parameters in patients with and without ADPN showed a significantly higher (P<0.0001) DPN motor potential area ratio (distal/proximal ratio) in subjects without an ADPN. CONCLUSION: Even though electrophysiological identification of the ADPN is generally not easy (in simple DPN motor conduction studies), the nerve can sometimes be clinically symptomatic (ankle pain). Evaluation of the DPN motor potential area ratio (distal/proximal ratio) heightens the detection of ADPN.

[Vitamin D and multiple sclerosis. A prospective survey of patients of Poitou-Charentes area]. / Vitamine D et sclérose en plaques. Étude prospective d'une cohorte de patients de la région Poitou-Charentes.

INTRODUCTION: Recent reports demonstrate the implication of vitamin D in multiple sclerosis (MS). METHODS: In a multicentric regional study (Poitou-Charentes area) during the first trimester 2010, we measured the 25-OH vitamin D serum level in 170 consecutive MS patients, and in 170 controls matched for age (±4 years), sex and date of blood sample analysis. We searched for correlations between 25-OH vitamin D serum levels and the MS form, the disability (EDSS), the relapse rate during the previous year and the presence and number of enhancing lesions on T1-weighted MRI dating less than 12 months in relapsing MS. RESULTS: Hypovitaminosis D was very frequent in MS patients and 25-OH vitamin D serum level was significantly lower (14.5 ± 9.2 mcg/mL) in MS patients than in the control group (16.7 ± 9.6 mcg/mL). This serum level was inversely correlated with the degree of disability measured with EDSS score and was lower in secondary progressive (RR-SP) and primary progressive (PP) MS than in relapsing MS (RR). No correlation was found between 25-OH vit D serum level and relapse rate during the previous year in RR MS and the presence and number of enhancing lesions on T1-weighted MRI dating from less than 12 months. CONCLUSION: 25-OH vit D serum level is very low in MS, mainly in RR-SP and PP MS and is correlated with disability. This suggests MS patients should be screened for vitamin D deficiency and given supplementation systematically when hypovitaminosis D is discovered.

[Was there a confusion before 1950 between global transient global amnesia and psychogenic amnesia?]. / L'ictus amnésique était-il vraiment confondu avant les années 1950 avec les amnésies psychogènes ?

INTRODUCTION: The first descriptions of transient global amnesia (TGA) were made in 1956 and 1958. Considering the large number of TGA reported since these original descriptions, it is not conceivable that TGA arose as a new entity in the mid-20th century. Many authors thus tried to understand why it had not been described by the authors of the late 19th and early 20th century. It was considered that TGA "was immersed in the literature on psychogenic amnesia" (Hodges, 1991) and particularly hysterical amnesia. But, can we consider that confusion between transient global amnesia and psychogenic amnesia truly existed? METHODS: The book of Paul Sollier, a student of Charcot and Ball, emphasizes the memory problems that were discussed in the second part of the 19th century. RESULTS: The author presents a clear differentiation between hysterical amnesia and amnesia triggered by an emotional shock. The cases he proposed include characteristic descriptions of transient global amnesia observed after a violent emotional shock. Sollier, like Ball and his student Rouillard, also considered transient amnesias such as post-traumatic amnesias occurring after mild head trauma. The triggering role was assigned to the "moral emotion" that can provoke a modification of the encephalic circulation. DISCUSSION: While TGA was not yet recognized as an entity, some French neurologists of the 19th century reported cases of temporary amnesias different from hysterical amnesia and occurring after an emotional shock, which were the first observations of the entity later recognized as TGA.

Hand up! Yawn and raise your arm.

BACKGROUND: In some cases of hemiplegia, the initiation of yawning is associated with involuntary raising of the paralysed arm. Reports are scarce in the literature, probably because the phenomenon has largely been overlooked. METHODS: We studied six patients from two neurologic units, and compared them with published cases from the last 200 years. Brain imaging typically shows a small vascular lesion most often located in the internal capsule. RESULTS: After comparison with experimental models in cats, we suggest that damage to the cortico-neocerebellar tract of the extrapyramidal system disinhibits the spino-archeocerebellar tract, enabling a motor stimulation of the arm by the lateral reticular nucleus, which harmonises both central respiratory and locomotor rhythms. CONCLUSIONS: When phylogenetically primitive structures are disinhibited, they regain autonomy in the homeostatic process associating the massive inspiration of yawning--a form of behaviour that stimulates vigilance--with a motor control mechanism that is active during locomotion. For this phenomenon, we coined the term 'parakinesia brachialis oscitans'.

[Muscular metastasis]. / Les métastases des muscles striés.

INTRODUCTION: Neoplasia is quite rare in myology. For unknown reasons, muscular metastasis are rarely described in cancer. METHOD: Our work was a retrospective study with analysis of the medical literature and the presentation of one case of muscular metastasis revealed by a limitation of mouth opening in a 58-year-old Caucasian man (metastatic infiltration of the right pterygoid muscle secondary to a poorly differentiated adenocarcinoma of the lower third of the esophagus). RESULTS: In addition to our case, we found 174 cases of cancer with muscular metastasis. Most of cases were observed in males (male/female ratio=2/1). The mean age at onset was 58.5 years (range: 13-89 years). The muscular metastasis were rarely found before the diagnosis of cancer (only in 37%), and usually appeared during disease progression, with other (extramuscular) metastases in 60% of cases. Prognosis was poor with less than 2.5% survival beyond 72 months. In most cases, muscular metastasis presented as a unique (78%), painful (61%) and palpable (63%) muscular mass, even if other asymptomatic muscular metastasis could be present. The mean localization of muscular metastasis was the lower limbs (46%), particularly in the proximal part (38% of all the muscular metastasis). The most frequent cancers were localized in lung, urinary tract, digestive tract and genital tract. When the muscular biopsy showed an "adenocarcinoma", in men the primitive cancers were localized in the digestive tract (35%), kidney (20%), and lung (18%) and in women, the genital tract and breast (23.5%). When the muscular biopsy showed a "squamous-cell carcinoma", in men the primitive cancers were localized in the lung (81%) and in women the cervix (64%). CONCLUSION: These results highlight the importance of searching for muscular metastasis in patients with a focal, painful and palpable muscular mass. The muscular biopsy and immunohistochemical data can be helpful in identifying the primary cancer.

Stroke and aspirin non-responder patients: relation with hypertension and platelet response to adenosine diphosphate.

Despite its widespread use, there are many concerns about the efficacy of aspirin in the secondary prevention of cardiovascular events after stroke, leading to the concept of aspirin non-response (ANR). Although the mechanisms of ANR remain uncertain, it is expected to be due to a combination of clinical, biological and genetic characteristics affecting platelet function. In this study, we investigated whether clinical and/or biological factors such as hypertension and platelet response to ADP could contribute to the ANR. As a secondary objective, we determine whether ANR and collagen/ADP closure time (CADP-CT) could be related to platelet glycoprotein single nucleotide polymorphisms (SNPs). One hundred patients on aspirin (160 mg/day) were enrolled. ANR was measured with a platelet function analyzer (PFA-100); genotyping of four SNPs (GP IIIa, GP Ia, P2Y12 and GP VI) was performed using a tetra-primer amplification refractory mutation system. Using a collagen/epinephrine-coated cartridge on the PFA-100, the prevalence of ANR was 15% (n = 15). In the ANR group, (i) CADP-CT was significantly shorter and (ii) hypertension was an independent clinical predictive factor of ANR (OR = 4.25; 95%CI: 1.06-17.11). No clear relation was found between CADT-CT and platelet gene polymorphism as well as ANR status and SNPs. In conclusion our study confirms the independent relationship between hypertension, platelet hypersensitivity to ADP and aspirin (160 mg/day) non-response. The differential sensitivity to aspirin may have potential clinical implications, where adaptation of antiplatelet therapy is necessary according to a patient's clinical and genetic characteristics.

Prosthetic carotid bypass grafts for atherosclerotic lesions: a prospective study of 198 consecutive cases.

OBJECTIVES: Carotid endarterectomy (CEA) is the standard treatment for atherosclerotic lesions involving the carotid bifurcation. However, CEA can be challenging under some conditions. The goal of this study was to determine the outcome and durability of prosthetic carotid bypass grafting (PCB) with polytetrafluoroethylene (PTFE) grafts as an alternative to CEA. METHODS: This is a prospective series of 198 consecutive patients with PCB, representing 12.4% of 1595 patients with a carotid reconstruction procedure performed in our department between September 1986 and December 2006. Qualifying event was stroke in 67 patients (34%) and transient ischaemic attack (TIA) in 45 (23%), and 86 patients (43%) were asymptomatic. Primary indications for PCB were extensive atherosclerotic lesions (n=71; 36%), carotid stenosis associated with kinking (n=49; 25%), recurrent stenosis (n=47; 23%), stenosis after radiation therapy (n=18; 9%) and technical failure of CEA (n=13; 7%), with excessive arterial wall thinning and perforation after endarterectomy (n=10) or intimal flap on completion digital angiography (n=3). RESULTS: The combined stroke and death rate at 30 days were 0.5% (one stroke). Median follow-up was 9.5 years (interquartile range (IQR): 6.2-18.3 years). At 10 years, primary patency was 97.9+/-3.4%. Six PCBs (3.0%) became occluded during follow-up; one patient had a restenosis greater than 50% and 18 patients (9.1%) had a restenosis of less than 50%. Five patients had an ipsilateral stroke (one postoperative stroke, one at 103 days with a patent PCB and three related to occlusion of the PCB at 4, 13 and 15 years after the procedure). At 10 years, cumulative stroke-free survival was 98.4+/-3.2%, and cumulative survival was 78.8+/-7.0%. CONCLUSIONS: PCB is a safe surgical alternative and is durable, with a low incidence of graft restenosis, when CEA seems hazardous.

[Obstructive sleep apnoea syndrome (OSAS) in women: a specific entity?]. / Pathologie pulmonaire au féminin: le SAOS de la femme, une entité particulière?

Despite a variable prevalence in the literature, OSAS is characterized by a higher frequency in men. This study involved a review of published data describing the impact of gender on features of OSAS. In women, OSAS seems to be associated with certain anatomical factors such as more significant obesity, a thinner oropharyngeal junction, a shorter uvula and reduced upper airway (UA) collapsibility, in comparison with men. Sleep related breathing disorders observed during pregnancy are more likely UA resistance syndrome than true OSAS, and are associated with severe fetal and maternal complications that could be improved by the use of nasal CPAP. Though OSAS symptoms are underestimated by women, the Epworth score as well as snoring are not influenced by gender. Gender does not seem to be a risk factor for increased mortality. Compliance with nasal CPAP is identical in both sexes, but oral appliance seem to be more effective in women. Further studies are needed to produce the required complementary data to confirm specific sex-related features in the diagnosis and treatment of OSAS.

[Cerebrovascular diseases and... skin abnormalities that disclose the diagnosis]. / Affections vasculaires cérébrales et... les anomalies cutanées qui font le diagnostic.

In many cases, the diagnostic work-up after a stroke can be greatly enhanced by a thorough examination of the skin, since vasculitis or vasculopathies, even if inherited, may affect cerebral vessels and the skin. Skin abnormalities differ depending on familial history, age of the patient, stroke subtype (cerebral infarct or hemorrhage), and etiology (cervical dissection, cardiac myxoma or small artery disease...).

[Solitary intracerebral langerhans cell histiocytosis: report of one case and literature review]. / Histiocytose langerhansienne encéphalique isolée à forme pseudotumorale: une observation et revue de la littérature.

INTRODUCTION: Langerhans cell histiocytosis is a multivisceral pathology. Neurological manifestations are rare. EXEGESIS: We report the case of a 31 year old man hospitalized for left partial motor seizure revealing a right frontal tumor with criteria for histiocytosis X. The histological and biological examination found criteria for Langerhans cell histiocytosis (CD1a and S100 reactivity). The check-up for extracerebral localisations of the disease was negative. The outcome was favourable after a total surgical resection. The review of the literature and a discussion on neurological manifestations of this disease were carried out. CONCLUSION: A neurological manifestation can be the first and only symptom of a Langerhans cell histiocytosis.

[Pure motor neuropathy, an uncommon complication of radiotherapy: report of 3 cases and review of the literature]. / La neuropathie motrice pure, une complication rare de la radiothérapie: trois observations et une revue de la littérature.

BACKGROUND: Early or late neurological symptoms with lesions of peripheral or central nervous system can originated from radiotherapy. METHODS: We report three cases of pure motor neuropathy in patients, which were treated by X-ray treatment several years ago. RESULTS: Three patients (35-65 years old) have been presenting a pure motor neuropathy between 8.5 and 21 years after radiotherapy for Hodgkin disease (two cases) or testicular seminoma (one case). In each case, a proximodistal weakness with proximal predominance was observed and confirmed by the electromyographic findings. After a gradual worsening, we observed a clinical stability in patients treated by anticoagulant (one case) or pentoxifylline (two cases). CONCLUSION: Pure motor neuropathy is a rare and late complication of the radiotherapy. A treatment with anticoagulant or pentoxifylline, with or without tocopherol, has been suggested.

[Wolfram's syndrome presenting as a cerebellar ataxia]. / Ataxie cérébelleuse révélant un syndrome de Wolfram.

INTRODUCTION: Wolfram syndrome is a genetic disease with recessive autosomic transmission, associating early-onset diabetes mellitus and bilateral optical atrophy. CASE REPORT: We report the case of a 47-year-old patient for whom we diagnosed a Wolfram syndrome in view of a late neurological syndrome in association with ataxia and bilateral horizontal nystagmus. The brain resonance magnetic imaging revealed a major atrophy of the brainstem and cerebellum. CONCLUSION: Wolfram syndrome is a rare pathology, with fatal consequences before the age of 50. The association of diabetes mellitus and optical atrophy, especially when there are other symptoms (ataxia, deafness, diabetes insipidus, neuropsychiatric manifestations or urinary tract disorders) should lead to this diagnosis and to carry out a genetic confirmation.