Abstract:
:The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors. Mutations in one of two genes, TSC1 and TSC2, result in a similar disease phenotype by disrupting the normal interaction of their protein products, hamartin and tuberin, which form a functional signaling complex. Disruption of these genes in the brain results in abnormal cellular differentiation, migration, and proliferation, giving rise to characteristic brain lesions called cortical tubers. Relevant animal models, including conventional and conditional knockout mice, are valuable tools for studying the normal functions of tuberin and hamartin and how disruption of their expression gives rise to the variety of clinical features that characterize tuberous sclerosis complex. In the future, these animals will be invaluable preclinical models for the development of highly specific and efficacious treatments for children affected with tuberous sclerosis complex.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Scheidenhelm DK,Gutmann DHdoi
10.1177/08830738040190091401subject
Has Abstractpub_date
2004-09-01 00:00:00pages
726-33issue
9eissn
0883-0738issn
1708-8283journal_volume
19pub_type
杂志文章,评审abstract::Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073815588995
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abstract::Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large in...
journal_title:Journal of child neurology
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abstract::This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum...
journal_title:Journal of child neurology
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abstract::The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...
journal_title:Journal of child neurology
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abstract::Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...
journal_title:Journal of child neurology
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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 atro...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389601100115
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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
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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
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doi:10.1177/0883073811425860
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abstract::Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...
journal_title:Journal of child neurology
pub_type: 杂志文章
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abstract::Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...
journal_title:Journal of child neurology
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abstract::Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2015-01-01 00:00:00
abstract::Rett Syndrome is known to occur in females, around the second year, with loss of hand use, onset of stereotypes and acquired microcephaly. Such regression is often very rapid, but this has never been documented. In one of our patients, photographs taken at different times clearly demonstrate the rapid progression of f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400815
更新日期:1999-08-01 00:00:00
abstract::The aim of this study was to clarify the relationship between neurologic findings and outcome of patients with West syndrome, focusing on the popliteal angle. The complete neurologic examination, including an assessment of the popliteal angle and muscle tone, was performed on 45 patients with West syndrome. A tight po...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210101801
更新日期:2006-10-01 00:00:00
abstract::We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809332766
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abstract::Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500805
更新日期:2000-08-01 00:00:00
abstract::We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive tes...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813509887
更新日期:2014-12-01 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::Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700215
更新日期:2002-02-01 00:00:00
abstract::We describe the clinical utility of echo-planar diffusion-weighted imaging in neonatal cerebral infarction. Eight full-term neonates aged 1 to 8 days referred for neonatal seizures were studied. Patients were followed for a mean of 17 months with detailed neurologic examinations at regular intervals. Head computed tom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500905
更新日期:2000-09-01 00:00:00
abstract::Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
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abstract::A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300115
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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
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abstract::Autism spectrum disorders are neurodevelopmental disorders that are thought to be caused by a gene-by-environment interaction and in which various immune alterations are reported. We investigate CD4(+) T-cell cytokine profiles and subpopulations in 19-year-old monozygotic twins with autism and different comorbidities....
journal_title:Journal of child neurology
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abstract::We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314160
更新日期:2008-09-01 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::The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2001-12-01 00:00:00
abstract::Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), ...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2000-10-01 00:00:00
abstract:INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...
journal_title:Journal of child neurology
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abstract::The purpose of this study was to determine whether children with epilepsy undergoing valproate therapy and who are otherwise healthy have lower levels of serum and muscle carnitine. A total of 50 patients with epilepsy, 3 to 14 years of age, who were treated solely with valproate and free of abnormal neurologic findin...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
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