[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.

[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.

[Spontaneous thrombosis of lesion-free carotid arteries: a retrospective analysis of eight patients]. / Thrombus endoluminal de l'artère carotide sans lésion sous-jacente. Etude rétrospective de 8 patients.

Strokes are rarely secondary to spontaneous carotid artery thrombosis. The objectives of this retrospective analysis were to define characteristic features and the clinical course. The study population included eight patients (6 females/2 males) seen at six university neurological centers. Age of onset was 46.5 years (range 38-52). Half of the patients had no vascular risk factor. Symptoms were TIA (n=1), strokes (n=7). Echotomography revealed intraluminal thrombus, with occlusion in 2 cases. Thrombi were found in common carotid artery (n=3), carotid bifurcation (n=2) and internal carotid artery (n=3). The thrombus was mobile in 4 cases. Seven patients were treated by anticoagulation therapy, one by surgery because of recurrent TIA. Further echotomographic exams revealed total resolution (3 cases) or decrease of the thrombus (3 cases). Occlusion was definitive in one patient. A cause was identified in six patients: acute leukemia (n=1), thrombocytopenic purpura (n=1), iron deficiency anemia (n=4).

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and cerebral hemorrhages, which can result in focal neurological deficits. Three CCM loci have been mapped, and loss-of-function mutations were identified in the KRIT1 (CCM1) and MGC4607 (CCM2) genes. We report herein the identification of PDCD10 (programmed cell death 10) as the CCM3 gene. The CCM3 locus has been previously mapped to 3q26-27 within a 22-cM interval that is bracketed by D3S1763 and D3S1262. We hypothesized that genomic deletions might occur at the CCM3 locus, as reported previously to occur at the CCM2 locus. Through high-density microsatellite genotyping of 20 families, we identified, in one family, null alleles that resulted from a deletion within a 4-Mb interval flanked by markers D3S3668 and D3S1614. This de novo deletion encompassed D3S1763, which strongly suggests that the CCM3 gene lies within a 970-kb region bracketed by D3S1763 and D3S1614. Six additional distinct deleterious mutations within PDCD10, one of the five known genes mapped within this interval, were identified in seven families. Three of these mutations were nonsense mutations, and two led to an aberrant splicing of exon 9, with a frameshift and a longer open reading frame within exon 10. The last of the six mutations led to an aberrant splicing of exon 5, without frameshift. Three of these mutations occurred de novo. All of them cosegregated with the disease in the families and were not observed in 200 control chromosomes. PDCD10, also called "TFAR15," had been initially identified through a screening for genes differentially expressed during the induction of apoptosis in the TF-1 premyeloid cell line. It is highly conserved in both vertebrates and invertebrates. Its implication in cerebral cavernous malformations strongly suggests that it is a new player in vascular morphogenesis and/or remodeling.

[Sleep apnea syndrome in the elderly]. / Le syndrome d'apnées du sommeil du sujet âgé.

INTRODUCTION: Sleep apnoea/hypopnoea syndrome (SAHS) is distinct in the elderly as age-related co-morbidity may be aggravated by sleep-related breathing disorders or may mask typical clinical symptoms. STATE OF ART: The SAHS prevalence in the elderly varies from one study to another, with an average rate of 25% that might increase according to the importance of associated pathologies. Clinical symptoms tend to be the neurological manifestations of excessive daytime sleepiness and cognitive deterioration. PERSPECTIVES: Treatment of SAHS should include weight reduction strategies if obesity is present. There is no role for surgery in this age group. On the other hand, adjustable oral appliances can be used depending on the severity of the SAHS, but nasal continuous positive airway pressure (CPAP) remains the most effective therapy available. Acceptance of and compliance with CPAP treatment is as good in this age group as in younger patients, with remarkable effectiveness in terms of improvement in daytime sleepiness and cognitive function. However, the effectiveness of treatment for SAHS is related to the level of symptoms present and this should be taken into account when making a therapeutic decision. CONCLUSIONS: These results fully justify treatment of SAHS in the elderly, but the decision to treat should be governed by the level of clinical symptoms from SAHS.

[Sleep apnea syndrome in the elderly]. / Le syndrome d'apnées du sommeil du sujet âgé.

INTRODUCTION: Sleep apnoea/hypopnoea syndrome (SAHS) is distinct in the elderly as age-related co-morbidity may be aggravated by sleep-related breathing disorders or may mask typical clinical symptoms. STATE OF ART: The SAHS prevalence in the elderly varies from one study to another, with an average rate of 25% that might increase according to the importance of associated pathologies. Clinical symptoms tend to be the neurological manifestations of excessive daytime sleepiness and cognitive deterioration. PERSPECTIVES: Treatment of SAHS should include weight reduction strategies if obesity is present. There is no role for surgery in this age group. On the other hand, adjustable oral appliances can be used depending on the severity of the SAHS, but nasal continuous positive airway pressure (CPAP) remains the most effective therapy available. Acceptance of and compliance with CPAP treatment is as good in this age group as in younger patients, with remarkable effectiveness in terms of improvement in daytime sleepiness and cognitive function. However, the effectiveness of treatment for SAHS is related to the level of symptoms present and this should be taken into account when making a therapeutic decision. CONCLUSIONS: These results fully justify treatment of SAHS in the elderly, but the decision to treat should be governed by the level of clinical symptoms from SAHS.

Relationship between sleep apnoea syndrome, snoring and headaches.

There is still a controversy regarding the relationship between sleep apnoea syndrome and headaches, especially morning headaches. Our objectives were: (i) to compare the prevalence and the clinical data of headaches in sleep apnoea syndrome (SAS) and control (snorers) groups defined by polysomnographic recording; (ii) to analyse the clinical improvement of headaches with appropriate treatment; and (iii) to correlate headaches with mood disorders, and nocturnal respiratory and architectural sleep parameters in order to understand the underlying pathophysiological mechanisms. This is a prospective study of 324 consecutive patients referred to our sleep centre for snoring. Of these, 312 patients who underwent sleep polysomnography were finally included. Patients and controls were interviewed about their medical past, headache history and clinical characteristics, their daytime sleepiness (Epworth's sleepiness scale) and their mood disorders (Zerssen's scale). Follow-up of patients with headaches (SAS and control groups), treated or not, was also assessed. According to our definition of SAS, patients were dissociated in SAS (n=164) and snorers (n=148). Fifty-three SAS patients had headaches, of whom 58.5% (n=30) suffered from morning headaches. However, there was no statistical difference between the two groups concerning the prevalence and the clinical characteristics of headaches. In addition, headaches and morning headaches were not correlated with nocturnal respiratory and architectural sleep parameters, nor with excessive daytime sleepiness, but were strongly correlated with mood disorders. In 36 SAS patients, headaches improved under treatment, but this was not statistically different from what was found among untreated snorers. Headaches and morning headaches are common in patients with SAS but may be considered as a non-specific symptom. The underlying mechanisms are not fully elucidated but depression could play an important role. Despite this absence of specificity, the treatment of SAS, especially nasal continuous positive airway pressure, leads to an improvement in headaches in several cases.

Early carotid endarterectomy after a nondisabling stroke: a prospective study.

On the recommendation of several studies, carotid endarterectomy (CEA) should be delayed for at least 6 weeks in patients suffering an acute nondisabling stroke. Our objective was to determine if these patients could be safely operated on earlier, thus decreasing the risk of a recurrent stroke prior to surgery. This prospective study, carried out from January 1990 to December 1997, included 72 consecutive patients having a nondisabling hemispheric stroke with severe ipsilateral carotid stenosis (NASCET 70-99%). All patients underwent CEA within 15 days of stroke onset. Patients were considered to have a nondisabling hemispheric stroke if (1) symptoms of hemispheric ischemia persisted longer than 24 hr and (2) the resulting deficit caused no major impairment in their everyday activities. All patients were examined by a neurologist prior to carotid angiography and contrast CT scan. Hemorrhage seen on the initial CT scan eliminated the patient from the study. If the CT scan with contrast injection was negative, patients underwent magnetic resonance imaging. CEA was performed under general anesthesia with intraluminal shunting. All patients had a postoperative duplex scan and yearly follow-up by a neurologist and a surgeon, with a duplex scan of the carotid arteries. Mean follow-up was 53 months. Our study shows that CEA can be performed relatively safely within 15 days following an acute nondisabling stroke. The arbitrary 6-week delay for CEA may unnecessarily expose patients with high-grade stenosis to a recurrent stroke, which could be prevented by earlier surgery.

[Papillary fibroelastoma. A rare etiology of strokes in young patients]. / Fibroélastome papillaire. Une étiologie rare des accidents vasculaires cérébraux du sujet jeune.

BACKGROUND: The papillary fibroelastomas are cardiac lesions, which typically occur on the cardiac valves, but rarely on the endocardium. The incidence of these benign primitive tumors varies from 0.002 to 0.33% and increases with advancing age. METHODS: We report two cases of stroke, one in a 31-year-old man and the other in a 48-year-old woman, both admitted to the same stroke center. RESULTS: The diagnostic studies were normal in these two patients, except for the echocardiography. The first showed an echogenic mass on the mitral valve on transthoracic echocardiography (TTE), confirmed by the transesophageal echocardiography (TEE). The second demonstrated a mass on the sigmoid aortic valve on TEE, but the TTE was normal. For these two patients, a surgical excision was carried out and pathologic examination concluded to a papillary fibroelastoma. After surgery, no recurrence was observed. CONCLUSIONS: The papillary fibroelastomas are usually asymptomatic and easily detected by TEE. However, it can be revealed by stroke, myocardial infarction and lower limbs ischemia. These cardiac tumors should be surgically removed, since their complete excision remains the only means of avoiding a recurrence of embolism.