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 SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding difficulties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.
journal_name
Arq Neuropsiquiatrjournal_title
Arquivos de neuro-psiquiatriaauthors
Reed UC,Reimao R,Espindola AA,Kok F,Ferreira LG,Resende MB,Messias TC,Carvalho MS,Diament A,Scaff M,Marie SKsubject
Has Abstractpub_date
2002-09-01 00:00:00pages
734-8issue
3-Beissn
0004-282Xissn
1678-4227pii
S0004-282X2002000500010journal_volume
60pub_type
杂志文章abstract::Laryngeal dystonia (spasmodic dysphonia) is a movement disorder characterized by involuntary contractions of laryngeal muscles involved with vocalization. The introduction of botulinum toxin in the treatment of laryngeal dystonia had a major clinical impact due to the striking improvement of symptoms. We report the pr...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 临床试验,杂志文章
doi:10.1590/s0004-282x2001000100020
更新日期:2001-03-01 00:00:00
abstract::We report on a 36 years-old man that had been at the Amazon forest four years before. Six months before the admission he had developed a progressive quadriparesis, gait ataxia, dysphagia, dysarthria, difficulty in breathing and hiccup. The gadolinium-enhanced T1-weighted MRI showed a lesion into the right parietoccipi...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000400033
更新日期:2006-09-01 00:00:00
abstract:OBJECTIVE:Elderly people are at a high risk of developing vitamin D (VitD) deficiency due to both decreased intake and cutaneous synthesis. Most of the biological actions of VitD are mediated by the vitamin D receptor (VDR), which is present in neurons and glial cells of the hippocampus, and in the cortex and subcortic...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20180116
更新日期:2018-11-01 00:00:00
abstract::We reviewed 444 EEGs of 62 women with medically refractory epilepsy, followed up for at least 5 years and that had 5 or more EEGs. According to our definitions we found 18 patients (29%) with frequent seizures, 16 (25.8%) with very frequent seizures, 16 (25.8%) with controlled seizures and 12 (19.3%) with occasional s...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract::Considering the genetical peculiarity of Charcot-Marie-Tooth's muscular atrophy, a family with three affected brothers was investigated, in which beginning date was discovered to be progressively antedated. Afterwards, this possible variant of anticipation is discussed, because such condition is quite ununsual, not on...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000200011
更新日期:1977-06-01 00:00:00
abstract::The aim of this study was to investigate the cardiovascular risk profile of the participants recruited from stroke awareness campaigns in Santa Maria RS, Brazil, from 2012 to 2016, using the simplified version of the Framingham Risk Score (FRS). Questionnaires were used to evaluate 1,061 participants from 20 to 74 yea...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20180020
更新日期:2018-04-01 00:00:00
abstract::West syndrome is a peculiar form of epilepsy of infancy and childhood characterized by spasms or massive myoclonus, regression neuropsychomotor development, and EEG abnormalities referred as hipsarrhythmia. We report nine cases of West syndrome discussing clinical, etiological, evolutive and therapeutic features. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1993000300011
更新日期:1993-09-01 00:00:00
abstract:UNLABELLED:Psychiatric disorders are frequent among patients with epilepsy. Data in the literature have shown a heterogeneous clinical presentation of psychiatric disorders in patients with epilepsy. Interictal dysphoric disorder could be a specific psychiatric comorbidity associated with epilepsy, primarily in patient...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20130165
更新日期:2013-11-01 00:00:00
abstract::Prospective series showing the importance of computerized stereotactic brain biopsy in the management of AIDS patients neurologically symptomatic and confirmed by images. Patients undergone an algorithm step by step done by their own doctors and referred to us for stereotactic biopsy. Our protocol was opened in August...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000200008
更新日期:1998-06-01 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: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::A new anti-epileptic agent (barbexaclone) was tried in 48 patients suffering from epilepsy and presenting a total of 67 types of crises. All the patients were considered "bad cases" because either by the intensity of the epileptic manifestations or by their refractoriness to the usual medications. The results, similar...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1977000300012
更新日期:1977-09-01 00:00:00
abstract::Headache is a common complaint with a high prevalence in ambulatory settings. The physical and neurological examinations are frequently normal. The use of questionnaires as a screening methods for patients with primary headache could facilitate the diagnosis in non-specialized medical centers. In the present study, we...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1997000300003
更新日期:1997-09-01 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:OBJECTIVE:Correlate the occurrence of falls and the activity of rolling over in bed with performance on the Trunk Mobility Scale (TMS) in patients with PD, and determine whether this instrument score can predict the risk of falls. METHOD:This is a cross-sectional study. Assessed patients reported the frequency of fall...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20160074
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:To compare gross motor development of preterm infants (PT) without cerebral palsy with healthy full-term (FT) infants, according to Alberta Infant Motor Scale (AIMS); to compare the age of walking between PT and FT; and whether the age of walking in PT is affected by neonatal variables. METHODS:Prospective s...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012000800007
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:To study the white matter of patients with multiple sclerosis (MS) with diffusion tensor magnetic resonance (MR) imaging (DTI). METHOD:Forty patients with clinical-laboratorial diagnosis of relapsing-remitting MS and 40 age- and sex-matched controls, who underwent conventional and functional (DTI) MR imaging...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000400002
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:To characterize neurological involvement in juvenile systemic lupus erythe-matosus. METHOD:The charts of all patients with the diagnosis of systemic lupus erythematosus before the age of 16 years, followed at the Rheumatology Unit of Pequeno Príncipe Hospital, from January 1992 to January 2006, were retrospe...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000300013
更新日期:2007-06-01 00:00:00
abstract:UNLABELLED:Few studies have addressed early cerebrovascular lethality in Brazil. OBJECTIVE:To evaluate 10 and 28-day stroke case-fatality rates in three hospitals in three Brazilian cities. METHODS:We described the stroke registries in São Paulo, João Pessoa, and Natal. RESULTS:Out of a total of 962 first-ever event...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2012001100009
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Rheumatic chorea (RC) has recently been linked to an antibody-mediated immune mechanism. OBJECTIVE/METHOD:To verify if this knowledge reflected in management changes we conceived a descriptive study. RESULTS:The medical charts of 20 children (13 females) aged 6 to 12 years (mean 8 years), diagnosed as RC f...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:To verify differences in the visual scanning strategies between pervasive developmental disorders (PDD) and controls when they are observing social and non-social pictures. METHOD:PDD group (PDDG) comprised by 10 non-retarded subjects (age from 4 to 41) and age-matched control group (CG). Nine social picture...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2006000400003
更新日期:2006-09-01 00:00:00
abstract::We report a case of Streptococcus pyogenes meningitis in a 18 days year-old-girl with clinical course complicated by sagittal sinus thrombosis. Some aspects of the pathogenesis, treatment and follow-up of the disease are discussed. The world increase of serious streptococcal infections in the last 10 years, probably w...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1998000500021
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:Image guided stereotactic biopsy (SB) provides cerebral tissue samples for histological analysis from minimal lesions or those that are located in deep regions, being crucial in the elaboration of therapeutic strategies, as well as the prevention of unnecessary neurosurgical interventions. METHOD:Sixty patie...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2009000600019
更新日期:2009-12-01 00:00:00
abstract::The spinal trauma related to civilian gunshot missile still remains a serious neurological event that carries a dismal prognosis almost in all cases. Its surgical indication also is a matter of discussion. Our goal is to identify the aspects that could influence the prognosis after surgery to this kind of lesions. We ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1999000500016
更新日期:1999-09-01 00:00:00
abstract::A case of central nervous system histoplasmosis located at the pons is reported. The authors point out difficulties for the diagnosis of the pathology during life and some aspects of the treatment and their results. The rarity of the process is emphasized. ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00
abstract::A 33-year-old female with neurofibromatosis and intracranial vascular lesions of the Moya-Moya type is reported. Clinical and angiographic aspects of both syndromes are discussed with respect to earlier reports of this rare association, with the conclusion that it produces slow intellectual and motor deterioration in ...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1986000400011
更新日期:1986-12-01 00:00:00
abstract::Cerebrospinal fluid (CSF) was analysed in 170 AIDS patients. All of them showed HIV positive serological tests. All of them showed neurologic syndromes related to AIDS. The time period of the investigation was July 1984-April 1989. In 8 cases (4.7%) CSF composition was normal. Lymphoma cells were observed in three cas...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x1989000300013
更新日期:1989-09-01 00:00:00
abstract:OBJECTIVE:To establish preoperatively the localization of the cortical projection of the inferior choroidal point (ICP) and use it as a reliable landmark when approaching the temporal horn through a middle temporal gyrus access. To review relevant anatomical features regarding selective amigdalohippocampectomy (AH) for...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282x20140165
更新日期:2014-10-01 00:00:00
abstract::The choline/N-acetyl-aspartate (Cho/NAA) ratio, obtained by the multivoxel spectroscopy with short echo time (TE), was evaluated, in the histological grading of the brain astrocytomas (grades I, II and III-IV) in comparison with the normal cerebral parenchyma. A significant increase (p<0.05) in the average ratios of C...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/s0004-282x2007000200019
更新日期:2007-06-01 00:00:00
abstract::To describe anticoagulation characteristics in patients with cardiac complications from Chagas disease and compare participants with and without cardioembolic ischemic stroke (CIS). A retrospective cohort of patients with Chagas disease, using anticoagulation, conducted from January 2011 to December 2014. Forty-two pa...
journal_title:Arquivos de neuro-psiquiatria
pub_type: 杂志文章
doi:10.1590/0004-282X20170180
更新日期:2018-01-01 00:00:00