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 disease, with evidence of dysarthria, weakness, mild gait impairment, and limb ataxia. We review the ethical issues considered during the process leading to the decision to offer cardiac transplantation.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor Pdoi
10.1177/0883073812448229subject
Has Abstractpub_date
2012-09-01 00:00:00pages
1193-6issue
9eissn
0883-0738issn
1708-8283pii
0883073812448229journal_volume
27pub_type
杂志文章,评审abstract::The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389300800422
更新日期:1993-10-01 00:00:00
abstract::Abnormal zinc metabolism in a 6-year-old male patient with Landau-Kleffner syndrome (acquired aphasia and convulsive disorder) is the subject of our report. We describe a significant decrease of erythrocyte and plasma zinc levels in the patient as compared with normal. Red blood cell zinc content is normally 38.5 +/- ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200105
更新日期:1987-01-01 00:00:00
abstract::An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380051
更新日期:2011-03-01 00:00:00
abstract::The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811414420
更新日期:2012-02-01 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::We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly desc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812474099
更新日期:2013-12-01 00:00:00
abstract::The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800213
更新日期:1993-04-01 00:00:00
abstract::Sydenham's chorea, the neurological manifestation of rheumatic fever, is the most common acquired chorea of childhood. In this retrospective study, the authors aim to present the clinical and laboratory findings of 65 Sydenham's chorea patients, followed up in a clinic over less than 7 years. The mean age at the onset...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807302614
更新日期:2007-05-01 00:00:00
abstract::Imaging findings of brain damage due to neonatal hypoglycemia are known; however, the effect of childhood hypoglycemia on the brain has not been described well. The authors present the case of a 6-year-old girl who had seizures secondary to hypoglycemia followed up for 1 year as epilepsy. The patient had experienced a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300299
更新日期:2007-02-01 00:00:00
abstract::We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435244
更新日期:2012-10-01 00:00:00
abstract::Diagnostic ultrasound has been extensively used for neurologic evaluation of cranial, vascular and spinal diseases. This study presents the techniques, methodology, and procedures for a new diagnostic application of ultrasound for evaluation of the neuromuscular system. In order to determine the optimum sonographic ch...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300115
更新日期:1988-01-01 00:00:00
abstract::The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-rec...
journal_title:Journal of child neurology
pub_type: 历史文章,杂志文章
doi:10.1177/088307389901400903
更新日期:1999-09-01 00:00:00
abstract::The purpose of this study was to assess sleep, daytime sleepiness, and behavior problems in children suffering from headaches and in controls, with a special focus on the role of gender. A clinical group of 28 children with persistent headache complaints and a control group of 108 healthy children were included. Sleep...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/7010.2006.00239
更新日期:2006-12-01 00:00:00
abstract::We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380101600809
更新日期:2001-08-01 00:00:00
abstract::Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a recently recognized autoimmune neurologic disorder that presents with severe neuropsychiatric symptoms in previously healthy children. A 4-year-old Lebanese girl presented with new-onset behavioral changes, orofacial dyskinesias, fluctuation in consciousness,...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812456085
更新日期:2013-10-01 00:00:00
abstract::The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600213
更新日期:2001-02-01 00:00:00
abstract::Ischemic strokes in children and young adults are fortunately rare. Contrasted with adult ischemic strokes, pediatric stroke etiologies vary greatly and are often unknown. Childhood lacunar strokes and trauma-induced strokes represent particularly uncommon subsets and have been reported infrequently in the literature....
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813500850
更新日期:2014-09-01 00:00:00
abstract::Neonatal seizures are one of the most common neurological disorders in infants. However, the optimal treatment strategy for neonatal seizures remains controversial and there is little data regarding current treatment of neonatal seizures. In this study we describe the current treatment of neonatal seizures and variati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808321056
更新日期:2009-02-01 00:00:00
abstract::A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500710
更新日期:2000-07-01 00:00:00
abstract:UNLABELLED:This study evaluates whether the literature-reported potential predictors can predict the outcome of multilevel botulinum toxin A injections in children who walk with flexed knees. The associations between 11 different predictors and 2 different outcome measures (the Gross Motor Function Measure and knee ang...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1177/0883073807313039
更新日期:2008-06-01 00:00:00
abstract::Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300208
更新日期:1988-04-01 00:00:00
abstract::Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073809338153
更新日期:2009-08-01 00:00:00
abstract::Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180111301
更新日期:2003-11-01 00:00:00
abstract::Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop di...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818798090
更新日期:2018-12-01 00:00:00
abstract::Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307099
更新日期:2007-11-01 00:00:00
abstract::A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, c...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811425860
更新日期:2012-06-01 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::This review summarizes what is known about the neurobiology of specific language impairment. Despite its name, specific language impairment is frequently not specific. It is common to find associated impairments in motor skills, cognitive function, attention, and reading in children who meet criteria for specific lang...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190070101
更新日期:2004-07-01 00:00:00
abstract::We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) dia...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300502
更新日期:1998-05-01 00:00:00
abstract::Sonography of the posterior fontanelle is easily performed and yields exquisite details of the outline of the major structures of the posterior fossa and the tentorium. These structures are more clearly outlined through the posterior fontanelle than via the traditional anterior fontanelle approach, probably because th...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073889004001s10
更新日期:1989-01-01 00:00:00