Abstract:
:An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was followed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atrophy in both patients. Postmortem examination in the older sibling showed diffuse atrophy of the supragranular layers of the cerebral cortex, atrophy and gliosis of the white matter, and accumulation of numerous amylaceous (polyglucosan) bodies within the cytoplasm of cell processes. The inclusions were closely associated with atrophy of the parenchyma. The findings suggest that this disorder is different from other childhood diseases in which amylaceous bodies accumulate within the brain.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
de León GA,Crawford SE,Stack C,Darling CF,Johnson GSdoi
10.1177/088307389601100115subject
Has Abstractpub_date
1996-01-01 00:00:00pages
58-62issue
1eissn
0883-0738issn
1708-8283journal_volume
11pub_type
杂志文章abstract::Neurological disorders, including neurodevelopmental disorders, have been identified by the World Health Organization (WHO) as one of the greatest threats to global public health. It is generally believed that these conditions are more prevalent in the developing than the developed world because of multiple known risk...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073809357792
更新日期:2010-04-01 00:00:00
abstract::Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814550827
更新日期:2015-03-01 00:00:00
abstract::Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extrem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101601009
更新日期:2001-10-01 00:00:00
abstract::Given the increased survival rates in patients with pediatric central nervous system tumors, late effects such as treatment- and/or illness-related neurologic sequelae as well as neuropsychological deficits and social difficulties have moved into focus in follow-up care. In order to provide personalized treatment reco...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073816669647
更新日期:2017-01-01 00:00:00
abstract::The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810362762
更新日期:2010-11-01 00:00:00
abstract::Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnosti...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808318543
更新日期:2008-12-01 00:00:00
abstract::Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, th...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808330185
更新日期:2010-02-01 00:00:00
abstract::The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817701879
更新日期:2017-07-01 00:00:00
abstract::A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900403
更新日期:2004-04-01 00:00:00
abstract::Acute infantile bilateral striatal necrosis is a rarely described acute neurological syndrome associated with radiological findings. Its etiology and pathogenic mechanisms are unknown. Clinically, the syndrome usually follows respiratory illnesses and presents with an array of neurological findings, including axial at...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304194
更新日期:2007-10-01 00:00:00
abstract::Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia ar...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813512026
更新日期:2014-11-01 00:00:00
abstract::This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum diso...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812447685
更新日期:2013-04-01 00:00:00
abstract::Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389701200304
更新日期:1997-04-01 00:00:00
abstract::Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who p...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600310
更新日期:2001-03-01 00:00:00
abstract::The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the geneti...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210091201
更新日期:2006-09-01 00:00:00
abstract::The aim of this study is to investigate the efficacy and tolerability of topiramate in a large number of children with West syndrome. The authors performed a retrospective, questionnaire-based data collection in specialized epilepsy units in Germany. Patients with West syndrome and hypsarrhythmia could be included if ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073807300535
更新日期:2007-03-01 00:00:00
abstract::The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812464272
更新日期:2013-11-01 00:00:00
abstract::The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813495960
更新日期:2013-09-01 00:00:00
abstract::We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389000500314
更新日期:1990-07-01 00:00:00
abstract::Levetiracetam, one of the newer-generation antiepilepsy drugs, is not currently approved for use in children. Given its favorable efficacy, pharmacokinetic, and, particularly, safety profile in adults, we felt that it may be a useful antiepilepsy drug for children with refractory epilepsy. We treated 39 patients (mean...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307380201700603
更新日期:2002-06-01 00:00:00
abstract::In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/08830738050200101001
更新日期:2005-10-01 00:00:00
abstract::Glucose transporter 1 facilitates glucose transport across the blood-brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. This study was designed to evaluate the effects of valproic acid on glucose transport in astrocyte cultures derived from SLC...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812440044
更新日期:2013-01-01 00:00:00
abstract::To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815575368
更新日期:2015-10-01 00:00:00
abstract::Behavioral and quantitative electroencephalography (EEG) techniques were used to evaluate treatment response to stimulant therapy in children with attention disorders. A sample of 130 children with attention disorders were evaluated with Conners and Diagnostic and Statistical Manual of Mental Disorders--III rating sca...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389901400601
更新日期:1999-06-01 00:00:00
abstract::Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500214
更新日期:1990-04-01 00:00:00
abstract::Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819887597
更新日期:2020-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819890997
更新日期:2020-03-01 00:00:00
abstract::Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, t...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389200700202
更新日期:1992-04-01 00:00:00
abstract::The authors conducted a systematic literature review of preventive pharmacological treatments for episodic childhood migraines searching several databases through May 20, 2012. Episodic migraine prevention was examined in 24 publications of randomized controlled trials that enrolled 1578 children in 16 nonrandomized s...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813488659
更新日期:2013-10-01 00:00:00
abstract::During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500403
更新日期:1990-10-01 00:00:00