Abstract:
:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detachment. The extreme congenital myopia in these patients is a significant risk factor for retinal detachment, and prophylactic barrier photocoagulation may be considered to prevent retinal detachment and its associated functional disability.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Patel N,Hejkal T,Katz A,Margalit Edoi
10.1177/0883073807301933subject
Has Abstractpub_date
2007-04-01 00:00:00pages
462-4issue
4eissn
0883-0738issn
1708-8283pii
22/4/462journal_volume
22pub_type
杂志文章abstract::The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809340921
更新日期:2010-05-01 00:00:00
abstract::The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210042101
更新日期:2006-04-01 00:00:00
abstract::Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300403
更新日期:1988-10-01 00:00:00
abstract::This study was conducted to determine the occurrence, severity, and risk factors of gingival enlargement in children treated with valproate and other nonvalproate antiepileptic drugs. A cross-sectional study was carried out in which data obtained from 68 epileptic children under treatment were compared with those from...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190120901
更新日期:2004-12-01 00:00:00
abstract::Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807303252
更新日期:2007-05-01 00:00:00
abstract::Ischemic stroke in the young is uncommon, but we currently evaluate at least one young stroke patient at our institutions each week. We undertook this chart review of strokes in patients between the ages of 6 months and 39 years to review all conditions associated with, and thus possibly contributory to, the stroke. W...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800311
更新日期:1993-07-01 00:00:00
abstract::A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375616
更新日期:2011-01-01 00:00:00
abstract::Direct perfusion of specific regions of the central nervous system by convection-enhanced delivery is becoming more widely used for the delivery of compounds in the research and treatment of various neural disorders. In contrast to other currently available central nervous system delivery techniques, convection-enhanc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073808321064
更新日期:2008-10-01 00:00:00
abstract::We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380048
更新日期:2011-03-01 00:00:00
abstract::Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535487
更新日期:2015-03-01 00:00:00
abstract::The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170111101
更新日期:2002-11-01 00:00:00
abstract::This study sought to investigate cognitive outcomes following pediatric arterial ischemic stroke and explore predictors. Participants included 36 children with perinatal or childhood arterial ischemic stroke and a comparison group of 15 children with asthma. Outcomes included cognitive ability, executive functions, an...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073813491828
更新日期:2014-07-01 00:00:00
abstract::We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389601100105
更新日期:1996-01-01 00:00:00
abstract::In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812448229
更新日期:2012-09-01 00:00:00
abstract::Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073888003001s14
更新日期:1988-01-01 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::The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800105
更新日期:1993-01-01 00:00:00
abstract::Idiopathic "benign" intracranial hypertension is an uncommon but important cause of headache that can lead to visual loss. This study was undertaken to review our experience in the diagnosis and management of idiopathic intracranial hypertension, giving special attention to treatments used. A retrospective chart revie...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600701
更新日期:2001-07-01 00:00:00
abstract::Among diverse populations concerning the etiology of attention deficit hyperactivity disorder (ADHD), frontal dysfunction remains strong. The influences of frontal systems on attention, particularly the elements of higher mental control postulated as prefrontal functions, are illustrated through presentation of a numb...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073891006001s02
更新日期:1991-01-01 00:00:00
abstract::The association of hypoparathyroidism and ischemic stroke is rare in childhood. We report an interesting case of an 11-year-old girl diagnosed to have hypoparathyroidism and presented with an acute-onset right hemiparesis. Investigations revealed large artery ischemic stroke and uncontrolled hypoparathyroidism. Pediat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814544366
更新日期:2015-07-01 00:00:00
abstract::Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738050200090901
更新日期:2005-09-01 00:00:00
abstract::Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous syste...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500407
更新日期:2000-04-01 00:00:00
abstract::Football injuries account for more concussions than any other sport in North America. A 1977 survey of high school football players in Minnesota found that 19% of players reported at least one concussion (characterized by loss of awareness) during a season. These results have not been confirmed in subsequent studies. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600203
更新日期:2001-02-01 00:00:00
abstract:AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820916260
更新日期:2020-07-01 00:00:00
abstract::Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809358765
更新日期:2010-10-01 00:00:00
abstract::We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816664670
更新日期:2016-12-01 00:00:00
abstract::Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309775
更新日期:2008-05-01 00:00:00
abstract::Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814552105
更新日期:2015-09-01 00:00:00
abstract::High-functioning adolescents and young adults with mitochondrial disease are now attempting transitions to postsecondary environments. This pilot and case study explores factors that interfere with their successful transition through behavior-rating scales addressing academic skills and behavior. In the Behavior Asses...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812442589
更新日期:2012-12-01 00:00:00
abstract::In this study the authors investigated whether dysregulation of the fragile X mental retardation protein and mammalian target of rapamycin signaling cascade can have a role in the pathogenesis of encephalopathy of prematurity following perinatal hypoxia-ischemia. The authors examined the brain tissue of newborns with ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815596617
更新日期:2016-03-01 00:00:00