Abstract:
:Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were characterized as multifocal myoclonic jerks of upper and lower limbs associated with buccal-lingual oral movements and eyelid blinking. Laboratory and neuroimaging studies were normal. Electroencephalographic record demonstrated a abnormal background activity with high-voltage epileptic discharges and a burst-suppression pattern. The seizures ceased after oral administration of pyridoxine, but recurred after withdrawal, confirming the diagnosis.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Lin J,Lin K,Masruha MR,Vilanova LCdoi
10.1590/s0004-282x2007000600023subject
Has Abstractpub_date
2007-12-01 00:00:00pages
1026-9issue
4Aeissn
0004-282Xissn
1678-4227pii
S0004-282X2007000600023journal_volume
65pub_type
杂志文章abstract::Classifications for neurological disorders have evolved from following the theory of the humors to modern anatomical pathology and, recently, to the germ theory that stared the etiological era, as seen in book content lists. The symptomatic approach towards neuronosology was widely used until the middle of the 19(th) ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 历史文章,杂志文章
doi:10.1590/s0004-282x2011000400028
更新日期:2011-06-01 00:00:00
abstract:UNLABELLED:Studies which have investigated muscular performance during the initial stages of Parkinson's disease (PD) without L-dopa treatments were not found. OBJECTIVE:to assess whether muscular performance, work and power, of the trunk and lower limbs in L-dopa naïve patients in the early stages of PD was lower tha...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160014
更新日期:2016-04-01 00:00:00
abstract::This review describes therapeutically relevant mechanisms of action of botulinum toxin (BT). BT's molecular mode of action includes extracellular binding to glycoproteine structures on cholinergic nerve terminals and intracellular blockade of the acetylcholine secretion. BT affects the spinal stretch reflex by blockad...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x2005000100035
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To investigate the association between total plasma homocysteine concentration, C677T and A1298C polymorphisms in MTHFR gene and Alzheimer's disease (AD) development. METHOD:Forty-three patients with probable (63%) and possible (37%) AD and 50 non-demented controls were evaluated. Groups did not differ as to...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000600010
更新日期:2006-12-01 00:00:00
abstract:PURPOSE:We preliminarily investigated the relevance of performing digital subtraction angiography (DSA) in addition to magnetic resonance angiography (MRA) in definition of ischemic stroke etiology in young patients. METHOD:DSAs and MRAs from 17 young patients with nonlacunar ischemic stroke were blindly analyzed and ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000300001
更新日期:2006-06-01 00:00:00
abstract:Objective::To evaluate the microRNA-219 and NMDA expression in brain tissue and blood of animals subjected to cerebral ischemia associated with alcoholism. Methods::Fifty Wistar rats were divided into groups: control, sham, ischemic, alcoholic, and ischemic plus alcoholic. The expression of microRNA-219 and NMDA were ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160188
更新日期:2017-01-01 00:00:00
abstract::The involvement of the central nervous system in paracoccidioidomycosis is more frequent than previously thought. The first reference to the possibility that Paracoccidioides brasiliensis could affect the central nervous system was by Pereira & Jacobs in 1919. Since then, a great number of other studies has showed thi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2000000400024
更新日期:2000-09-01 00:00:00
abstract::Art and Medicine often mingle in the most unexpected ways. One can often find in pictorial art the representation of many medical conditions. The same can happen with sculptures; however, the finding of an urban sculpture in a public space with features of parkinsonism is unique. We reported how "The Shaking Man", an ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20130013
更新日期:2013-04-01 00:00:00
abstract::We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000200010
更新日期:2006-06-01 00:00:00
abstract::Myelomeningocele is the most common congenital malformation of the nervous system and despite its complexity and involvement of multiple organs is compatible with long survival. The peculiar characteristics of this malformation expose myelomeningocele patients to acute and chronic care problems with effects in quality...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract:INTRODUCTION:Hormonal fluctuation is responsible for worsening of epileptic seizures during the menstrual cycle. OBJECTIVE:To identify irregularities in the menstrual cycles of women with mesial temporal lobe epilepsy (MTLE) and extratemporal focal epilepsy (ETFE) and correlate the frequency of seizures during the men...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000500006
更新日期:2005-09-01 00:00:00
abstract:OBJECTIVE:To show data on the performance of healthy subjects in the Frontal Assessment Battery (FAB), correlating with gender, age, education, and scores in the Mini-Mental State Examination (MMSE). METHODS:Two hundred and seventy-five healthy individuals with mean age of 66.4 ± 10.6 years-old were evaluated. Mean to...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012005000009
更新日期:2012-04-01 00:00:00
abstract:OBJECTIVE:To determine the sensitivity and specificity of peripheral and respiratory muscle strength tests in diagnosing critical illness polyneuromyopathy (CIPNM), compared with an electrophysiological examination. METHODS:Fifty septic patients who required mechanical ventilation for at least five days, and without a...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180144
更新日期:2019-01-01 00:00:00
abstract:AIM:To evaluate smell recognition in pervasive developmental disorders (PDD). METHOD:Twenty-one PDD (experimental group) and 21 matched controls (control group) male adolescents were submitted to a standardized, 12-stimuli, smell battery in three moments: with no identification suggestion; associated to four linguisti...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000700021
更新日期:2007-12-01 00:00:00
abstract::The many kinds of complication that have been observed following operations of basilar impression and/or malformation of Arnold-Chiari are analysed. Two surgical techniques were adopted in the treatment of the patients. In the first 64 cases, the operation consisted in the craniectomy of the posterior fossa and high c...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
abstract::Jean-Martin Charcot, the father of Neurology, a very austere and reserved man that did not express affection freely for human being, had a profound affection to animals, particularly to a small female monkey, called "Rosalie", which came from Brazil and was a gift of Dom Pedro II to Charcot. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 传,历史文章,杂志文章
doi:10.1590/s0004-282x2005000400031
更新日期:2005-09-01 00:00:00
abstract::After brief comments about the angiographic findings on 298 consecutive cases of isquemic or hemorrhagic cerebral vascular strokes, cerebral angiography is emphasized as the main diagnostic method, owing to the variety of physiopathogenic and ethiologic factors involved in the genesis of this syndromes. The results of...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000100002
更新日期:1977-03-01 00:00:00
abstract::Surgery for space occupying lesions of the brain associated with intractable epilepsy represents a special problem because relief of the epilepsy in as much an operative goal as excision of the space occupying lesion itself. This study concerns 32 patients with space occupying lesions and intractable epilepsy who unde...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1996000300004
更新日期:1996-09-01 00:00:00
abstract::A case of eosinophilic granuloma of the cervical spine in a ten year-old white boy is reported. The patient complained of posterior cervical pain at the level of C5-C6 and right hemiparesis that progressed to mixed tetraparesis (lower motor neuron in upper limbs and upper motor neuron in lower limbs). Examination of t...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1975000200010
更新日期:1975-06-01 00:00:00
abstract::We describe ten children, aging 5 years and 1 month until 5 years and 11 months, when the phonoaudiological assessment was conducted. They are divided according to cerebrovascular disease, in CVD group (CVD-G) and control group (cG). Children were seen and CVD was confirmed in the acute phase at UNICAMP hospital. Audi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000500016
更新日期:2005-09-01 00:00:00
abstract::We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had S...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-09-01 00:00:00
abstract:UNLABELLED:The 'Time is Brain" concept has been a major focus in the World Stroke Awareness Campaign. OBJECTIVE:We describe our experience with a Hackathon (junction of hack+marathon), a 24 hour event of innovation- and technology-based project development, focused around detecting stroke. METHOD:The Hackathon was he...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20150177
更新日期:2015-12-01 00:00:00
abstract::A 45 years-old woman presented with loss of initiative and memory, motivated cry and behaviour disturbance with childish traits, quickly progressive along 6 months until total apathy. An EEG showed periodic activity with bilateral triphasic waves against a flattened background activity suggesting Creutzfeldt-Jacob dis...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1990000200019
更新日期:1990-06-01 00:00:00
abstract::According to the definition of disease, epilepsy shall not be considered neither a symptom nor a syndrome. Epilepsy is a generic term for a group of diseases characterized by seizures. It implies a state quite distinct from health. Therefore it seems worthy to keep epilepsy as such in the International Classification ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1994000400025
更新日期:1994-12-01 00:00:00
abstract::The most important methods and results found in literature on immunoglobulins of the normal cerebrospinal fluid (CSF) are reviewed. A study was made of immunoglobulins in the CSF of 50 individuals who suffered from chronic migraine but showed normal results for the physical and neurological examinations; electroenceph...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章,评审
doi:10.1590/s0004-282x1979000300002
更新日期:1979-09-01 00:00:00
abstract::Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2005000100005
更新日期:2005-03-01 00:00:00
abstract::There is much controversy about the importance of the electroencephalogram (EEG) in assessing the attention-deficit/hyperactivity disorder (ADHD). The objective of this study was to assess the use of EEG and quantitative EEG (qEEG) in ADHD children. Thirty ADHD children and 30 sex- and age-matched controls with no neu...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2008000400004
更新日期:2008-09-01 00:00:00
abstract::We report the case of a 41-year-old man with iatrogenic Creutzfeldt-Jakob disease (CJD) acquired after the use of growth hormone (GH) obtained from a number of pituitary glands sourced from autopsy material. The incubation period of the disease (from the midpoint of treatment to the onset of clinical symptoms) was rat...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2002000300022
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:to describe clinical and laboratorial characteristics of acute bacterial meningitis in infants. METHOD:data from the prospective follow-up of infants with acute bacterial meningitis, admitted at the Hospital Couto Maia between March and December 1997, were analyzed with specific statistical software. RESULT...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::Motor function, cognition, functional independence and quality of life have been described in myelomeningocele patients, but no study has investigated their relationships. We aimed to investigate the relationships between motor function, cognition, functional independence, quality of life, age, and lesion level in mye...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170088
更新日期:2017-08-01 00:00:00