Abstract：
:Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portuguese family with a mutation (c.456C>T; p.Gln486X) in the SL6CA8 gene: two adult monozygotic twin brothers, with psychomotor delay and severe speech impairment. The family also includes their maternal half-sister with psychomotor retardation, predominantly in language, and their mentally retarded mother. This family illustrates the remarkable phenotypic variability in this condition. Investigation of creatine metabolism is mandatory in patients with developmental delay of unknown etiology, to detect this condition.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Garcia P,Rodrigues F,Valongo C,Salomons GS,Diogo Ldoi
10.1016/j.pediatrneurol.2011.10.005subject
Has Abstractpub_date
2012-01-01 00:00:00pages
39-41issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(11)00428-0journal_volume
46pub_type
杂志文章abstract：BACKGROUND:The mechanistic target of rapamycin inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel antiepileptic medication. There is lack o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.11.017
更新日期：2020-04-01 00:00:00
abstract：:Fenfluramine therapy has been reported to improve behavior in infantile autism and has been associated with a decrease in abnormally increased blood serotonin content. The primary central effect has not been proved to be serotonergic. Beta-endorphin is involved in the anorexic effect of fenfluramine and may play a rol...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/0887-8994(87)90032-4
更新日期：1987-03-01 00:00:00
abstract：:In clinical practice, an association is commonly suggested between nocturnal epileptiform activity and language disorders in children. However, this association has not been studied systematically. This study explored the correlation between daily and nocturnal epileptiform discharges ratio, frequency of nocturnal epi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.10.014
更新日期：2011-05-01 00:00:00
abstract：:A 7-year-old female suddenly exhibited high fever and convulsions, and entered a semi-coma. She also had thrombocytopenia, elevated aminotransferase, prolonged prothrombin time and activated partial thromboplastin time, and hemophagocytes in the bone marrow. The brain magnetic resonance imaging revealed multiple low-i...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.08.030
更新日期：2006-04-01 00:00:00
abstract：:Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging charact...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00322-8
更新日期：2002-01-01 00:00:00
abstract：:This report describes the case of an 11-year-old girl with a prior history of epilepsy and multiple episodes of status epilepticus who presented with generalized convulsive status epilepticus and left hemiclonic seizures. Magnetic resonance imaging, including diffusion-weighted sequences and spectroscopy, and neuropat...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2006.12.005
更新日期：2007-04-01 00:00:00
abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00104-6
更新日期：2000-01-01 00:00:00
abstract：:Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(87)90025-7
更新日期：1987-07-01 00:00:00
abstract：BACKGROUND:Electrographic status epilepticus in slow sleep or continuous spike and waves during slow-wave sleep is an epileptic encephalopathy characterized by seizures, neurocognitive regression, and significant activation of epileptiform discharges during nonrapid eye movement sleep. There is no consensus on the diag...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.02.016
更新日期：2016-07-01 00:00:00
abstract：:We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed norm...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.03.011
更新日期：2010-07-01 00:00:00
abstract：:Syncope affects all age groups and is characterized by a brief sudden loss of consciousness followed by fast recovery. Vasovagal syncope, the most common type, is generally assumed to be due to venous pooling and an abnormal sympathetic response. In approximately 20% of cases, more than one family member is affected. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.003
更新日期：2009-01-01 00:00:00
abstract：:A 6-year-old, previously healthy male presented with fever and lethargy. Tuberculous meningitis was suspected after cerebrospinal fluid examination. Antituberculous drugs were administered, and an initial computed tomographic scan of brain revealed mild ventriculomegaly only. Steroids were instituted on day 16 and gra...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2004.05.008
更新日期：2004-11-01 00:00:00
abstract：:In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.07.013
更新日期：2005-02-01 00:00:00
abstract：:Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(91)90085-y
更新日期：1991-05-01 00:00:00
abstract：:The aim of the study was to assess neurologic complications of pertussis infection. A file review of all children (age 7-18 years) in our hospital with serology-positive pertussis infection admitted from 1995 to 2005 yielded six patients with neurologic symptoms in whom electroencephalographic studies were performed. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.05.001
更新日期：2006-10-01 00:00:00
abstract：BACKGROUND:Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.04.007
更新日期：2014-01-01 00:00:00
abstract：:Epilepsia partialis continua is defined as a spontaneous regular or irregular clonic muscular twitching affecting a limited part of the body, occurring for a minimum of 1 hour and recurring at intervals of less than 10 seconds. Levamisole is used as an immunomodulating medication in patients with recurrent aphthous ul...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.11.020
更新日期：2011-05-01 00:00:00
abstract：:We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(96)00251-2
更新日期：1996-11-01 00:00:00
abstract：:Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies repor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00227-0
更新日期：1998-05-01 00:00:00
abstract：:Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on cl...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)80670-4
更新日期：1997-07-01 00:00:00
abstract：:Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2019.06.017
更新日期：2019-11-01 00:00:00
abstract：:Child neurology has evolved from a primarily diagnostic to a therapeutic subspecialty. Despite well-documented manpower shortages, child neurology programs at major children's hospitals have expanded, and the optimal administrative structure for child neurology programs has not been clearly defined. The Division of Ch...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.07.007
更新日期：2011-01-01 00:00:00
abstract：:A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(96)00004-5
更新日期：1996-02-01 00:00:00
abstract：:The object of this study was to investigate the potential association of infections, especially group A hemolytic streptococcal infection, with the abrupt onset/exacerbation of tics or obsessive-compulsive behaviors. A structured clinical interview was used to evaluate 80 consecutive children, 5-17 years of age, with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00131-4
更新日期：2000-05-01 00:00:00
abstract：BACKGROUND:Neonatal neurocritical care is a growing and rapidly evolving medical subspecialty, with increasing numbers of dedicated multidisciplinary clinical, educational, and research programs established at academic institutions. The growth of these programs has provided trainees in neurology, neonatology, and pedia...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2016.06.006
更新日期：2016-10-01 00:00:00
abstract：:We sought to distinguish patients testing positive for human herpesvirus 6 from those testing negative, based on clinical features and magnetic resonance images. Sixteen immunosuppresed patients were tested by polymerase chain reaction for human herpes virus 6 DNA in cerebrospinal fluid (nine positive results). Medica...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.07.014
更新日期：2010-01-01 00:00:00
abstract：:Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.09.020
更新日期：2009-02-01 00:00:00
abstract：:We report a 4-year-old, left-handed male with focal coxsackievirus A3 encephalitis who presented with seizures and acquired aphasia. Electroencephalography exhibited focal spike discharges over the right frontal regions, but cranial magnetic resonance imaging did not reveal any structural abnormalities. However, brain...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00206-x
更新日期：2000-11-01 00:00:00
abstract：:In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.03.004
更新日期：2009-08-01 00:00:00
abstract：OBJECTIVE:To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. STUDY DESIGN:We investigated clinical and diffusion-weighted imaging findings in 32 patients with benign convulsions with m...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.05.002
更新日期：2020-08-01 00:00:00
