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This article aims to describe the arguments underlying the experts' recommendations for management of stroke patients in the intensive unit, focusing on intracranial hypertension. This article describes the pathophysiology, diagnostic methods and therapeutic options for intracranial hypertension after stroke, including medical and surgical management., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)

Introduction: Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attacks of imbalance and incoordination. EA conditions are clinically and genetically heterogeneous. Seven types of EA have been reported so far but the majority of clinical cases result from two recognized entities., State of Art: Episodic ataxia type 1 (EA1) is characterized by brief episodes of ataxia and dysarthria, and interictal myokymia. Onset occurs during the first two decades of life. Associated epilepsy has been reported in some EA1 patients. EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1. Mutation is mostly missense mutations. Acetazolamide, a carbonic-anhydrase inhibitor, may reduce the frequency and severity of the attacks in some but not all affected individuals. Episodic ataxia type 2 (EA2) is characterized by episodes lasting longer than in EA1, that manifest by ataxia, dysarthria, vertigo, and also, in most of the cases, an interictal nystagmus. Other clinical features as developmental delay or epilepsy can be present in some patients. Brain MRI shows frequently a vermian atrophy. Onset occurs typically in childhood or early adolescence, but can sometimes be in adulthood. EA2 is caused by mutations in CACNA1A, a gene coding for the neuronal voltage-gated calcium channel Cav1.1. For two-thirds of the cases, mutations lead to a stop codon. This type is most often responsive to acetazolamide that reduces the frequency and severity of attacks, but does not appear to prevent the progression of interictal symptoms., Perspectives: This article summarizes current knowledge on episodic ataxia type 1 and 2 and describes briefly the other types of EA., Conclusion: Molecular analysis of KCNA1 or CACNA1A provides a confirmation of the diagnosis of EA1 and EA2. Other types remain rare phenotypic variants. Among them, only two genes have been identified: CACNB4 in EA5 and SLC1A3 in EA6 and mutations have been found in a very few cases. No mutation can be detected in some familial cases of episodic ataxia, suggesting further heterogeneity., (Copyright © 2011 Elsevier Masson SAS. All rights reserved.)

Objectives: To observe whether medical complications, the evolution of neurological disorders and dependence and/or the discharge destinations are different for patients treated by craniectomy for malignant cerebral infarction in the middle cerebral artery compared to patients treated medically for severe or malignant cerebral infarction in the same cerebral territory, during their hospitalization in a physical medicine and rehabilitation department., Patients and Methods: This retrospective study compared patients treated by craniectomy for malignant cerebral infarction in the middle cerebral artery and patients treated medically for severe or malignant cerebral infarction in the same cerebral territory. Patients were paired according to age, lesion side and hospitalization period., Results: Twelve patients treated by craniectomy (age 43+/-10.44) were paired with 12 patients treated medically (age 49+/-7.66). The two groups were comparable in terms of general undesirable medical events. The medical events related to craniectomy are described. The evolution of patient deficiencies, the length of the hospital stay (194+/-118.93 days vs 152+/-94.64 days), the Functional Independence Measure at discharge (87+/-21.28 vs 95+/-22.19) and the number of direct home discharges (7 vs 9) did not significantly differ between groups., Discussion and Conclusion: No more medical problems were observed in the patients treated by craniectomy than in the patients treated medically, except for the medical events specifically related to craniectomy, which extended the hospital stay but had no major repercussions., (2010 Elsevier Masson SAS. All rights reserved.)

Stenosis is the most frequent complication during Crohn's disease. The lesion can be inflammatory, or due to a fibrosing or neoplastic process. The medical treatment with anti-inflammatory drugs is usually sufficient as first line treatment; fibrous lesions require endoscopic or surgical procedures while neoplastic lesions require surgery. A multidisciplinary approach (radiologic, medical, surgical and endoscopic) is needed. In a first part, we discuss the definition of stenosis and the modalities of imaging (particularly MRI) and of treatment (particularly with TNFalpha antagonists). Then we expose the strategy for the management of the most frequent clinical situations: occlusion, ileal inflammatory stenosis, stenosis of an ileocolonic anastomosis and chronic fibrous stenosis. The treatment decision takes into account the results of radiological assessment, CRP level and the effects of the previous treatments.

Pneumatosis intestinalis is a rare condition, which is defined by the presence of gas within the bowel wall. In adult patients, pneumatosis intestinalis can be depicted in various circumstances. Owing to the routine use of CT to investigate patients with abdominal pain, pneumatosis intestinalis can be seen as an incidental finding or can be observed in association with a life-threatening disease such as bowel infarction. On CT images, pneumatosis intestinalis can display two different appearances; one that has a cystic or bubbly appearance can be considered as a chronic pneumatosis and is suggestive for a benign cause while the other, which has a linear appearance can be considered as a symptom and is more frequently secondary to a life-threatening cause. However, none of these two CT characteristics can be considered pathognomonic for any of these two categories of causes. In such situations, the analysis of the location, extent and, if any, associated findings may help to differentiate between benign and life-threatening causes. In these patients who present with abdominal signs that mimic symptoms that would warrant surgical exploration, the analysis of associated findings is critical to rule out a life-threatening cause of pneumatosis intestinalis and to obviate the need for unnecessary laparotomy. In adult patients with a known specific disease such as celiac disease, chronic pseudointestinal obstruction or other chronic diseases, even with accompanying pneumoperitoneum, pneumatosis intestinalis does not uniformly mandate surgical exploration. This pictorial review presents the more and the less common pneumatosis intestinalis CT features in adult patients, with the aim of making the reader more familiar with this potentially misleading sign.

Host of the duodenal diverticulum are asymptomatic and located on the second part of the duodenum; these diverticula may induce major haemorrhage on rare occasions. We report on two patients who presented with massive upper gastrointestinal bleeding originating from a duodenal diverticulum. One patient was successfully treated by endoscopy and the other patient required diverticulectomy with successful outcome.

CADASIL, an autosomal dominant adult onset arteriopathy causing stroke and dementia in humans, is underlaid by a non atherosclerotic non amyloid angiopathy involving mainly the media of small cerebral arteries; it is characterized by major lesions of vascular smooth muscle cells. Using a positional cloning approach, we mapped CADASIL locus on chromosome 19 and identified the mutated gene as being Notch3. This gene, previously unknown in humans, encodes for a large transmembrane receptor belonging to the Notch/lin12 gene family which are known to be involved in cell fate specification during development. Genetic analysis of more than 120 CADASIL unrelated families allowed us to show that these mutations are highly stereotyped and affect only the extra cellular domain of the protein. On the basis of these data, a molecular diagnostic test has been set up and is now widely required by clinicians involved in the diagnosis of vascular leukoencephalopathies. Using this test, we recently showed that CADASIL can also occur in patients who do not have any affected relative due to the existence of notch3 de novo mutations. As a first step to investigate the molecular and cellular mechanisms leading from Notch3 mutations to CADASIL phenotype, we analyzed by in-situ hybridization and immunohistochemistry the pattern of expression of this gene. Notch3 expression is highly restricted to the vascular smooth muscle cell in normal human adults. In CADASIL tissues there is a dramatic accumulation of the extracellular domain of the protein which suggests that one of the main mechanisms of CADASIL involves anomalies in the proteolytical cleavage and clearance of this protein. These data provide important clues to the mechanisms of this condition and current work should lead in the next future to a complete understanding of CADASIL and set up the basis of a rational therapeutical approach of this condition.

Recently identified in a french family, CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a generalised disease of small arteries, largely predominating in the brain. Its clinical manifestations start during mid-adulthood and include recurrent ischaemic subcortical events, attacks of migraine with aura, severe mood disorders, subcortical dementia, and, at magnetic resonance imaging, widespread leuko-encephalopathy. There is so far no specific treatment and the mean duration of the disease is 20 years. CADASIL is most frequently a familial disorder with an autosomal dominant mode of transmission. Its responsible gene, Notch 3, is located on Chromosome 19. By the identification of its gene, CADASIL, (which is now known to affect over 400 families worldwide) is a unique variety of cerebro-vascular disease, affecting mainly the subcortical white matter.

CADASIL is an inherited arterial disease of the brain with an autosomal dominant pattern of transmission. The mapping of the affected gene in 1993 allowed us to describe the natural history of the disease. In some patients, the disease starts with attacks of migraine with aura at a mean age of 30 years. The most frequent clinical manifestations are subcortical transient ischemic attacks or completed strokes usually occurring between 40 and 50 years of age which are sometimes associated with severe mood disturbances. The disease leads about two decades later to death after a variable period of subcortical dementia associated with pseudobulbar palsy and urinary incontinence. In one given family, the severity of the clinical presentation varies among the affected subjects. MRI is always abnormal in symptomatic subjects. It shows more or less confluent hypersignals on T2-weighted images in white-matter and basal ganglia and hyposignals on T1-weighted images in the same regions corresponding to small infarcts. These signal abnormalities are even observed a long time before the onset of clinical manifestations as they are present in totally asymptomatic young family members. Histologic studies show a widespread palor of white-matter and multiple small infarcts in the white-matter and basal ganglia underlaid by a small artery disease of the brain. Electron microscopy studies show that the media of the white-matter and leptomeningeal small arteries is thickened by a granular, eosinophilic and non-amyloid material of undetermined origin close to the smooth muscle cells. These ultrastructural wall abnormalities have been observed in other arteries, particularly in muscular and skin arteries. Mutations of Notch3 gene located on chromosome 19 are responsible for the disease. The diagnosis should be discussed in subjects with a history of unexplained subcortical ischemic strokes, attacks of migraine with aura, mood disorders of subcortical dementia whenever associated with MRI signal abnormalities in white-matter and basal ganglia.

Recently identified, CADASIL is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and, at MRI, a white spread leukoencephalopathy. There is so far no specific treatment and death occurs after a mean of twenty years. CADASIL is an autosomal dominant condition and the gene Notch 3 is located on chromosome 19, in the same region as another neurological disorder, familial hemiplegic migraine.