Surgical Decompression for Space-Occupying Hemispheric Infarction: A Systematic Review and Individual Patient Meta-analysis of Randomized Clinical Trials.

Importance: In patients with space-occupying hemispheric infarction, surgical decompression reduces the risk of death and increases the chance of a favorable outcome. Uncertainties, however, still remain about the benefit of this treatment for specific patient groups.

Objective: To assess whether surgical decompression for space-occupying hemispheric infarction is associated with a reduced risk of death and an increased chance of favorable outcomes, as well as whether this association is modified by patient characteristics.

No benefits of hypothermia in patients treated with hemicraniectomy for large ischemic stroke.

Background Space-occupying middle cerebral artery brain infarcts are associated with the development of brain edema, which may lead to cerebral herniation and death despite early hemicraniectomy. Aims To evaluate the benefit of therapeutic hypothermia in patients with space-occupying cerebral infarction treated with hemicraniectomy within 48 h of stroke onset. Methods Patients aged 18-60 years with space-occupying cerebral infarction treated with hemicraniectomy within 48 h and hypothermia (33-34°C) were selected from a single university hospital between 2001 and 2010 (n = 53).

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

Background: Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism.

Objective: To report a case of homocystinuria unraveled by cerebral venous thrombosis (CVT).

Carotid atherosclerotic markers in CADASIL.

Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations of the NOTCH3 gene. Marked variations in disease severity have raised the hypothesis that non-genetic factors may modulate the expressivity of the phenotype. The aim of the current study was to evaluate whether atherosclerosis, assessed by carotid duplex ultrasonography, is associated with variations in the clinical and MRI phenotype of CADASIL.

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.

Purpose Of Review: This review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations. COL4A1 encodes type IV collagen α1 chain, a crucial component of nearly all basement membrane including vasculature, renal glomerule and ocular structures.

Recent Findings: The human phenotypes are extremely variable between patients and between families, with disease onset as early as in the fetal period.

Should decompressive surgery be performed in malignant cerebral venous thrombosis?: a series of 12 patients.

Background And Purpose: In malignant cerebral venous thrombosis (CVT) patients, emergency decompressive surgery has been suggested as a life-saving procedure. We report 12 patients with malignant CVT, among whom 8 underwent operation.

Methods: Retrospective study of 12 patients from 3 stroke units who had a malignant CVT as defined: (1) supratentorial cortical lesions attributable to superficial venous system thrombosis with or without sinus involvement; (2) with clinical (decreased consciousness and dilated pupils) or radiological signs of transtentorial herniation; (3) either at onset or after worsening despite heparin therapy.

Sinking skin flap syndrome and paradoxical herniation after hemicraniectomy for malignant hemispheric infarction.

Background And Purpose: "Sinking skin flap" (SSF) syndrome is a rare complication after large craniectomy that may progress to "paradoxical" herniation as a consequence of atmospheric pressure exceeding intracranial pressure. The prevalence and characteristics of SSF syndrome after hemicraniectomy for malignant infarction of the middle cerebral artery are not well known.

Methods: We analyzed a prospective cohort of 27 patients who underwent hemicraniectomy for malignant middle cerebral artery infarction.

Identification of CACNA1A large deletions in four patients with episodic ataxia.

Episodic ataxia is an autosomal dominant ion channel disorder characterized by paroxysmal attacks of incoordination. Episodic ataxia type 2 (EA2) is caused by mutations in CACNA1A. EA2 mutations are mostly nonsense and sometimes missense mutations.

Decompressive hemicraniectomy for malignant hemispheric infarction.

Malignant middle cerebral artery infarction is associated with up to 80% mortality due to ischemic edema and brain herniation. No medical therapy has proven its efficacy in efficiently and durably reducing brain edema and improving patients' outcome. Decompressive surgery by a large hemicraniectomy with durotomy has been suggested as a life-saving emergency procedure.

Sequential-design, multicenter, randomized, controlled trial of early decompressive craniectomy in malignant middle cerebral artery infarction (DECIMAL Trial).

Background And Purpose: There is no effective medical treatment of malignant middle cerebral artery (MCA) infarction. The purpose of this clinical trial was to assess the efficacy of early decompressive craniectomy in patients with malignant MCA infarction.

Methods: We conducted in France a multicenter, randomized trial involving patients between 18 and 55 years of age with malignant MCA infarction to compare functional outcomes with or without decompressive craniectomy.

COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.

Background And Purpose: Recently COL4A1, a gene encoding the type IV collagen alpha1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation.

Early decompressive surgery in malignant infarction of the middle cerebral artery: a pooled analysis of three randomised controlled trials.

Background: Malignant infarction of the middle cerebral artery (MCA) is associated with an 80% mortality rate. Non-randomised studies have suggested that decompressive surgery reduces this mortality without increasing the number of severely disabled survivors. To obtain sufficient data as soon as possible to reliably estimate the effects of decompressive surgery, results from three European randomised controlled trials (DECIMAL, DESTINY, HAMLET) were pooled.

Characteristic features of in vivo skin microvascular reactivity in CADASIL.

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is caused by mutations in the Notch3 receptor expressed at the surface of vascular smooth muscle cells. The functional consequences of the disease at the peripheral microcirculation level are incompletely elucidated. In this study, we aimed to assess, in vivo, the endothelium-dependent and independent vasodilation of the skin microvasculature in CADASIL patients.

Role of COL4A1 in small-vessel disease and hemorrhagic stroke.

Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha1, predisposes both newborn and adult mice to intracerebral hemorrhage. Surgical delivery of mutant mice alleviated birth-associated trauma and hemorrhage.

Electrocardiogram in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy patients without any clinical evidence of coronary artery disease: a case-control study.

Background And Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic arteriopathy caused by highly stereotyped mutations in NOTCH3. The clinical expression of CADASIL is confined to the central nervous system with characteristic recurrent subcortical infarcts and vascular dementia. However, cases have been reported with associated circulatory small vessel abnormalities in the retina or the myocardium and with myocardial infarction.

Migraine with aura and brain magnetic resonance imaging abnormalities in patients with CADASIL.

Background: Migraine with aura (MA) is one of the clinical hallmarks of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a small vessel disease of the brain caused by mutations in the NOTCH3 gene, but its exact mechanisms are unknown.

Objectives: To describe the patterns of MA in CADASIL and to compare brain magnetic resonance signal abnormalities between CADASIL patients with and without MA.

Design: Comparison of brain magnetic resonance signal abnormalities between cases and controls.

Uncontrollable high-frequency tachypnea in a case of unilateral medial medullary infarct.

Background: Medullary infarcts can be associated with breathing disorders that usually consist in central hypoventilation.

Patient: We describe the case of a 54-year-old man, fully conscious, presenting with an uncontrollable high frequency and shallow tachypnea (95/min) at the onset of a unilateral medial medullary infarct. This disorder disappeared under inspiratory pressure support mechanical ventilation.

Thrombolysis in stroke.

The ability to use an effective treatment constitutes a main concern in the management of acute ischemic stroke. Randomized trials have so far failed to demonstrate any beneficial effect of neuroprotective agents on neurologic outcome after an acute stroke. Thrombolytic agents can achieve early recanalization of an occluded intracerebral artery.