Thrombolysis rate and impact of a stroke code: a French hospital experience and a systematic review.

BACKGROUND: Intravenous rt-PA is effective in hyperacute ischemic stroke (HAIS) but is administered only in few patients. OBJECTIVES: To report the thrombolysis rate in our stroke unit using a stroke code (SC) protocol with a prenotification system and to analyze the SC impact on the thrombolysis rate in a systematic review. METHODS: We report, from 2005 to 2009, the intravenous rt-PA rate in our prospective registry of hyperacute strokes suspicions. The systematic review was conducted in searching PubMed and EMBASE for prospective studies reporting thrombolysis rates and their use of a SC. We categorized SC between those with a prenotification by the Emergency Medical Services and those with only an in-hospital SC system. RESULTS: Among the 1450 stroke patients hospitalized in our stroke unit, 349 were admitted via the SC protocol as suspicions of hyperacute strokes. Intravenous rt-PA rates were: 12.9% of the ischemic strokes, 36% of the suspicions of hyperacute strokes and 59.6% of the HAIS. We found 23 studies reporting thrombolysis rates ranging from 10.3% to 58% of HAIS. Ten studies gave data concerning the use of a SC in case of HAIS. Thrombolysis rate was higher in hospitals with a prenotification system (54.7%) compared with both those with no specific organization (18.2%) (OR=5.43, 95% CI: 3.84-7.73) and those with an in-hospital restricted SC (37.9%) (OR=1.97, 95% CI: 1.53-2.54). CONCLUSIONS: Thrombolysis rate of HAIS is improved by a SC, especially when a prenotification system of thrombolysis candidates by Emergency Medical Services to the stroke unit is used.

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome.

BACKGROUND: COL4A1 mutations cause familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD), and hemorrhagic stroke. We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 mutations. The aim of this study was to describe the cerebrovascular phenotype of HANAC. METHODS: Detailed clinical data were collected in 14 affected subjects from the 3 families. MRI and magnetic resonance angiography (MRA) were performed in 9 of them. Skin biopsies were analyzed by electron microscopy in affected subjects in the 3 families. RESULTS: Only 2 of 14 subjects had clinical cerebrovascular symptoms: a minor ischemic stroke at age 47 years and a small posttraumatic hemorrhage under anticoagulants at age 48 years. MRI-MRA showed cerebrovascular lesions in 8 of 9 studied subjects (mean age 39.4 years, 21-57 years), asymptomatic in 6 of them. Unique or multiple intracranial aneurysms, all on the carotid siphon, were observed in 5 patients. Seven patients had a CSVD characterized by white matter changes (7/7) affecting subcortical, periventricular, or pontine regions, dilated perivascular spaces (5/7), and lacunar infarcts (4/7). Infantile hemiplegia, major stroke, and porencephaly were not observed. Skin biopsies showed alterations of basement membranes at the dermoepidermal junction associated with expansion of extracellular matrix between smooth vascular cells in the arteriolar wall. CONCLUSION: The cerebrovascular phenotype in hereditary angiopathy with nephropathy, aneurysm, and muscle cramps syndrome associates a cerebral small vessel disease and a large vessel disease with aneurysms of the carotid siphon. It is consistent with a lower susceptibility to hemorrhagic stroke than in familial porencephaly, suggesting an important clinical heterogeneity in the phenotypic expression of disorders related to COL4A1 mutations.

[Wilson disease]. / La maladie de Wilson.

Wilson disease is an autosomal recessive disorder of copper overload. A principal characteristic of this disease is its wide phenotypic and genotypic variability. Its results from mutations of the ATP 7B gene located on chromosome 13, that encodes a hepatic copper transport protein. More than 300 mutations of this gene have been identified. This protein ensures the transport of copper in the hepatocyte, its incorporation with the apoceruloplasmin and its biliary excretion. The clinical manifestations are heterogeneous as well in their presentation, dominated by the neuropsychiatric and hepatic symptoms, as in the age of the first symptoms. Early recognition and initiation of therapy with chelators or zinc are essential for prognosis. Liver transplantation is indicated in cases with fulminant hepatitis, end-stage liver cirrhosis and should be considered in the therapy resistant neurological forms. A regular follow-up with monitoring of adverse effects of treatment and compliance is essential. Any discontinuation of treatments will involve, within a very variable time, but in constant manner, a reappearance or a reaggravation of the signs. Such relapses are often brutal and can be extremely serious, especially since response to subsequent treatment is often poor.

Pain as the only symptom of cervical artery dissection.

BACKGROUND: Headache or neck pain is a frequent symptom of spontaneous cervical artery dissection (sCAD). PATIENTS AND METHODS: Patients were drawn from an ongoing hospital-based registry of consecutive cases diagnosed with sCAD. Only patients with isolated pain were included in this series. Pain topography, dynamics, severity and quality, imaging findings and outcome were analysed. RESULTS: 20 of 245 (8%) patients with sCAD presented with pain as the only symptom (mean (SD) age 39 (8) years; 14 (70%) women). Of them, 12 had vertebral artery dissection, 3 had internal carotid dissection and 5 had multiple dissections. The median delay from symptom onset to diagnosis was 7 days (range 4 h to 29 days). 6 patients presented with headache, 2 with neck pain and 12 with both. Onset of headache was progressive in 6, acute in 8 and thunderclap-type in 4 patients; neck pain was progressive in 7 and acute in 7. Headache was throbbing in 13 and constrictive in 5 patients; neck pain was throbbing in 4 and constrictive in 10. Pain was unilateral in 11 and bilateral in 9. Pain was different from earlier episodes in all but one case. All patients were pain free at 3 months. CONCLUSION: Pain may be the only symptom in sCAD, even when multiple arteries are dissected. Pain topography, dynamics, quality and intensity were heterogeneous. Data from this study lend support to recommendations favouring imaging studies of the cervical arteries in patients with new-onset unexplained headache or neck pain.

Clinical correlates of cerebral water diffusion in Wilson disease.

OBJECTIVE: To investigate the course of diffusion changes in Wilson disease (WD) and to evaluate their clinical and radiologic correlates. METHODS: MRI with fluid-attenuated inversion recovery (FLAIR) and diffusion weighted images (DWI) were performed in 13 symptomatic patients with WD who had typical neurologic manifestations of the disease (sWD patients) and in 5 presymptomatic patients (psWD patients). Follow-up clinical and MRI data were obtained in 12/13 patients with sWD. Ten subjects without neurologic disease and with normal cerebral MRI were used as controls. Apparent diffusion coefficient (ADC) was measured in areas where hyperintense lesions were detected on FLAIR images and in the normal-appearing white matter. RESULTS: Hyperintense lesions were detected in all symptomatic patients on FLAIR MR images but only in 11 of 13 patients with sWD on DWI. These lesions were absent in patients with psWD. The mean ADC was found increased in the putamen, pallidum, internal capsule, mesencephalon, and within the white matter in the symptomatic group in comparison to controls. This was not observed in patients with psWD, who even had a decreased ADC in the putamen. A significant correlation was found between the increase in diffusion and the modified Rankin Scale in presence of symptoms. Moreover, the variation of the clinical scale was significantly correlated with the variation of diffusion in the putamen of symptomatic patients. CONCLUSION: A decrease in diffusion in the putamen can be detected before the occurrence of neurologic manifestations in WD. In contrast, a large increase in diffusion is detected after the occurrence of symptoms within the putamen, pallidum, internal capsule, and subcortical white matter parallel to the signal changes as seen on fluid-attenuated inversion recovery and diffusion weighted images.

Use of mechanical extraction devices in basilar artery occlusion.

Three consecutive patients with embolic basilar artery occlusion were treated with endovascular mechanical thrombus extraction. Recanalisation was rapidly obtained in one patient, who had a good initial recovery, and in another patient who made a complete recovery. By contrast, recanalisation failed in the third patient, who made no recovery. No haemorrhagic complications were detected. This technique may have advantages over thrombolysis in both efficacy and safety.

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is a small-artery disease of the brain caused by NOTCH3 mutations that lead to an abnormal accumulation of NOTCH3 within the vasculature. We aimed to establish whether immunostaining skin biopsy samples with a monoclonal antibody specific for NOTCH3 could form the basis of a reliable and easy diagnostic test. We compared the sensitivity and specificity of this method in two groups of patients suspected of having CADASIL with complete scanning of mutation-causing exons of NOTCH3 (in a retrospective series of 39 patients) and with limited scanning of four exons that are mutation hotspots (prospective series of 42 patients). In the retrospective series skin biopsy was positive in 21 (96%) of the 22 CADASIL patients examined and negative in all others; in the prospective series, seven of the 42 patients had a positive skin biopsy whereas only four had a mutation detected by limited NOTCH3 scanning. Our immunostaining technique is highly sensitive (96%) and specific (100%) for diagnosis of CADASIL.