Abstract：
INTRODUCTION:Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease. Clinical features include tendon xanthomas, premature cataracts and progressive neurologic dysfunctions. Substantial elevation of serum cholestanol and urinary bile alcohols and their precursors establishes the diagnosis. Magnetic resonance image (MRI) is useful for diagnosis of cerebral and tendinous lesions. Treatment with chanodeoxycholic acid (CDCA) has been reported to correct biochemical abnormalities and to arrest and possibility to reverse the progression of the neurologic symptoms in some patients. CLINICAL CASE:We present the case of a 34-year-old male suffering from ataxia and enlargement of both Achilles tendons suggestive of cerebrotendinous xanthomatosis. The findings of elevated serum cholestanol and urinary bile alcohols confirmed clinical suspicious. Cranial and tendinous MRI evidenced cerebral, cerebellar, medullar and tendinous lesions. The patient received treatment with CDCA for 42 months (750 mg/day), with improvement in neurologic symptoms, correction of analytical parameters and cerebellar and medullar lesions at MRI. CONCLUSION:In cerebrotendinous xanthomatosis, treatment with CDCA reduces serum cholestanol and arrest neurologic symptoms progression. In accordance with clinical evolution and analytical normalization, we point out he utility of MRI in the surveillance and response to treatment with CDCA.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Cuende E,Gómez-Rz de Mendarozqueta M,Vesga JC,Saracíbar N,Ibáñez-Avilés A,Castellano-Hurtado Csubject
Has Abstractpub_date
1996-12-01 00:00:00pages
1535-8issue
136eissn
0210-0010issn
1576-6578journal_volume
24pub_type
杂志文章abstract：INTRODUCTION AND OBJECTIVE:Preliminary studies (phase III) have shown that treatment with beta-interferon 1a (avonex) is effective in diverse aspects of relapsing/remitting multiple sclerosis (RRMS). The present study discusses results of an opened prolonged (phase IV) trial at the Baylor/Methodist International Multip...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-09-01 00:00:00
abstract：AIM:To analyze the safety profile and clinical outcome of patients with acute cerebral ischemia who received open treatment with tissue plasminogen activator (rt-PA) in a hospital without previous experience. PATIENTS AND METHODS:This prospective and observational study were realized from January 2004 to January 2007....
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2008-01-01 00:00:00
abstract：INTRODUCTION:Fibrinolytic agents are effective in the treatment of acute ischemic stroke. However, logistic and clinical factors limit their use. Neuroprotective drugs pose less risks and can be used even before performance of computed tomography of the brain as they are not detrimental in hemorrhagic stroke. These asp...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-05-01 00:00:00
abstract：INTRODUCTION:Although visual symptoms of multiple sclerosis (MS) are very frequent, they are rarely related with treatment with interferon. This is the first case reported in the literature of retinopathy associated with subcutaneous interferon beta-1a, and the second related to interferons in MS. CASE REPORT:A 30-yea...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-04-16 00:00:00
abstract：:Restoration of blood flow is necessary when treating brain ischemia. However, except in very early cases, this is insufficient to prevent the cascade of mediators of cell damage unleashed by ischemia which, on the other hand, is boosted by the deleterious effects of reperfusion. We therefore consider adequate treatmen...
journal_title：Revista de neurologia
pub_type： 杂志文章
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更新日期：1996-02-01 00:00:00
abstract：:INTRODUCTION. Takotsubo syndrome (TTS) is a rare condition that mimics an acute myocardial infarction. It is associated with precordial pain, ST segment elevation, absence of coronary occlusion and reversible deformation of the left ventricle due to anteroapical dyskinesia that is reminiscent of a Japanese art of fish...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2012-12-16 00:00:00
abstract：TITLE:Telemedicina en pediatría del neurodesarrollo durante la pandemia de COVID-19: experiencia en un hospital terciario. ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.7112.2020554
更新日期：2020-12-16 00:00:00
abstract：AIM:To analyze the importance of the neurotransmitter glutamate in the pathogenesis of Alzheimer's disease (AD). DEVELOPMENT:Elements of the physiological glutamatergic neurotransmission are reviewed, such as the neuronal types that utilize it, glutamatergic receptors and their characteristics, and glutamate transport...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-04-01 00:00:00
abstract：OBJECTIVE:To standardize and to determine the structural validity of a conduct disorder self report questionnaire in adolescents. PATIENTS AND METHODS:One hundred ninety, 12 to 16 year old male participants from the different socioeconomic status were randomized selected from educational institutions of Medellin City,...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-06-16 00:00:00
abstract：INTRODUCTION AND DEVELOPMENT:Medulloblastoma is a cerebellar small cell tumor, whose ancestor cell has not been yet identified in the human normal embriology: its exact origin is, in fact, still unknown. Nevertheless, one of the most acceptable possibilities facing the origin of the tumor is the remaining rests of cere...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-08-16 00:00:00
abstract：INTRODUCTION:The cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations of the Notch3 gene in the chromosome 19p13.1. and is characterized by small-vessel disease of the cerebral. The clinical feature consists of migraine, recurrent strokes, mood chan...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-11-16 00:00:00
abstract：INTRODUCTION:Lyme disease is a complex infectious disease affecting multiple organic systems. The most frequent complications are of a dermatological, rheumatological, ophthalmological, cardiac and neurological nature. Among the neurological complications, pseudotumour cerebri is considered to be a rare manifestation o...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-04-16 00:00:00
abstract：INTRODUCTION:The incidence in the central nervous system diseases has increased with a growing elderly population. Unfortunately, conventional treatments used to treat the mentioned diseases are frequently ineffective due to the presence of the blood brain barrier. AIM:To illustrate the blood-brain barrier properties ...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2014-03-01 00:00:00
abstract：INTRODUCTION:Chronic migraine is the most frequent complication of migraine. It is defined by the presence of headache on 15 or more days a month, of which at least eight must meet the criteria of migraine without aura for a minimum of three months. In addition they must not be due to medication abuse or attributable t...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-05-16 00:00:00
abstract：INTRODUCTION AND CLINICAL CASE:A 58-year-old hypertensive man presented with the sudden onset of quadriplegia and inability to protrude the tongue. Magnetic resonance imaging showed a bilateral medial medullary infarction associated with an abnormally dilated and partially occluded vertebral artery. CONCLUSION:This is...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：INTRODUCTION:Optogenetic is an experimental technique that combines genetic engineering and optical physics procedures to mark specific neurons in the brain and activate them at will through rays of light of certain frequency. AIM:To explain, to readers not versed in genetics the history, the rationale and the present...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章
doi：
更新日期：2016-02-01 00:00:00
abstract：INTRODUCTION:The occupational environment generates a large amount of illness which involves several specialities, including neurology. However, there is little awareness--or little training--in this field as in most medical specialities, since in the basic tool of a doctor's work, the clinical history, importance is s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-11-01 00:00:00
abstract：TITLE:Facilitar el acceso a toda la informacion debe ser una obligacion para las revistas medicas. : ...
journal_title：Revista de neurologia
pub_type： 信件
doi：
更新日期：2018-02-16 00:00:00
abstract：INTRODUCTION:Benign idiopathic external hydrocephalus (BIEH) is an age-dependent disorder that is self-limiting in time and has an uncertain aetiology. PATIENTS AND METHODS:A retrospective study was conducted involving 39 patients (16 girls and 23 boys) with BIEH. The following data were analysed for each patient: age...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2005-05-01 00:00:00
abstract：INTRODUCTION:The value of the P300 cognitive event-related potential in the diagnosis of Alzheimer subtype neurocognitive disorders is still incipient. Recent studies suggest that combining it with neuropsychological tests by cognitive domains would allow an objective and early characterisation of the cognitive impairm...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：10.33588/rn.7101.2019341
更新日期：2020-07-01 00:00:00
abstract：INTRODUCTION:An important aim of neuropsychological assessment is to identify impairment in higher cognitive or intellectual, functioning. In order to achieve this task the assessment of premorbid intellectual ability becomes crucial. The estimation of premorbid cognitive functioning will allow us to assess level of co...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2004-03-01 00:00:00
abstract：INTRODUCTION:Surgery for resection of supratentorial lesions near the motor areas and/or internal capsule carries an associated risk of damage to cortical or subcortical motor pathways. Intraoperative brain mapping, using direct cortical electric stimulation, is a surgical adjunct used during lesionectomy in functional...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2009-06-16 00:00:00
abstract：:Autism spectrum disorder (autism) is a highly prevalent and heterogeneous family of neurodevelopmental disorders of genetic origins with potentially devastating implications for child, family, health and educational systems. Despite advances in paper-and-pencil screening and in standardization of diagnostic procedures...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2015-02-25 00:00:00
abstract：PURPOSE AND SETTING:To describe the prevalence and risk factors for carotid stenosis in TIA/stroke patients with non valvular atrial fibrillation (AF) and to compare clinical and CT characteristics of TIA/stroke in AF patients with and without carotid stenosis. SUBJECTS:50 TIA/stroke patients with AF who had ultrasoun...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：INTRODUCTION:An appropriate localization of ictal onset zone in refractory temporal lobe epilepsy favors an adequate outcome associated with surgical treatment. When video-electroencephalogram (video-EEG) and magnetic resonance imaging do not provide accurate data to locate ictal onset zone, the use of subdural or deep...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2012-11-01 00:00:00
abstract：INTRODUCTION:In the evaluation of stenoses of the extracranial internal carotid artery (ICA), there are studies that suggest that magnetic resonance angiography (MRA) can be a substitute for conventional arteriography (CA), although it seems it has a tendency to overestimate the degree of stenosis. No similar compariso...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-10-16 00:00:00
abstract：INTRODUCTION:Significant progress in the understanding of the molecular genetics and pathophysiology of inherited neuropathies has been achieved during the last years. DEVELOPMENT:The causative genetic defects of most of the demyelinating forms are known and different chromosomal loci have been identified for the rare...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-16 00:00:00
abstract：TITLE:Disfunción de barrera y síndrome de Guillain-Barré como exponentes del daño endotelial en la COVID-19. ...
journal_title：Revista de neurologia
pub_type： 评论,信件
doi：10.33588/rn.7111.2020568
更新日期：2020-12-01 00:00:00
abstract：OBJECTIVE:To observe the frequency of various psychiatric disorders (depressive disorders, anxiety state and paraphrenic-paranoid disorders). PATIENTS AND METHODS:This study includes the 'cases' of dementia detected in an epidemiological field study done door-to-door, double phased and including non-institutionalized ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：OBJECTIVE:The atherosclerosis is the most common cause of death and disability in developed countries by causing ischemic cardiopathic and stroke. The ischemic atherotrombotic stroke is the most frequent form of the last one. In this sense we review herein the mechanisms underlying the artherosclerotic process. DEVELO...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-09-01 00:00:00
