Abstract:
:In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ventricle from the pachygyric cortical surface plus a homogeneous clinical picture. Affected patients have early-onset drug-resistant epilepsy and severe developmental delay. We describe the clinical, genetic, neurophysiologic, and neuroradiologic characteristics of four patients affected by tuberous sclerosis and this type of cortical dysplasia these patients are of special interest because they have been operated on for their dysplastic lesions. Total control of seizures has been achieved in the three children who underwent a complete lesionectomy. This result cannot be permanent, however, because of the presence of other cortical tubers which could become epileptogenic. All things considered, our choice was to give these children at least temporary relief from severe epilepsy and possibly support for developmental progression.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Vigliano P,Canavese C,Bobba B,Genitori L,Papalia F,Padovan S,Forni Mdoi
10.1177/08830738020170101601subject
Has Abstractpub_date
2002-10-01 00:00:00pages
752-8issue
10eissn
0883-0738issn
1708-8283journal_volume
17pub_type
杂志文章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
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abstract::Cytomegalovirus lumbosacral polyradiculopathy is a well-documented complication of human immunodeficiency virus in adults who have a CD4 count of less than 40/microL. Patients present with an acute ascending flaccid paralysis of the lower limbs with areflexia, paresthesia, and urinary and bowel symptoms. However, it a...
journal_title:Journal of child neurology
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doi:10.1177/0883073808322671
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abstract::Magnetic resonance imaging is an important tool in the evaluation of patients with seizures. Frequently, abnormalities are found that lead to further, invasive testing. The first child with transient abnormal findings on magnetic resonance imaging during a time of frequent partial seizures is presented. This lesion di...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600209
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abstract::Sydenham's chorea results from group A streptococcus infection and subsequent generation of antineuronal antibodies directed at the caudate nucleus and putamen. Predominantly bilateral, in up to 30% of cases the chorea can be unilaterally restricted. Imaging studies, both structural (magnetic resonance imaging) and fu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400805
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abstract::In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389801300905
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abstract::Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807302597
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abstract::Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...
journal_title:Journal of child neurology
pub_type: 杂志文章
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abstract::The objective of this study was to compare the efficacy of corticotropin (ACTH) versus vigabatrin in treating infantile spasms and to determine which medication has a more favorable long-term outcome in terms of cognitive function, evolution of epilepsy, and incidence of autism. Patients with infantile spasms were inc...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
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更新日期:2003-03-01 00:00:00
abstract::This study presents a large multicenter cohort of children with cerebral venous thrombosis from 5 centers in the United States and analyzes their clinical findings and risk factors. Seventy patients were included in the study (25 neonates, 35%). The age ranged from 6 days to 12 years. Thirty-eight (55%) were younger t...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
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abstract::Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...
journal_title:Journal of child neurology
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更新日期:1999-11-01 00:00:00
abstract::To determine the plasma baclofen concentrations of children undergoing continuous intrathecal baclofen infusion for treatment of cerebral spasticity, we assayed plasma samples from six children, 8 to 18 years of age, who were receiving intrathecal baclofen at constant rates of 77 to 400 micrograms/day. Plasma levels w...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
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更新日期:1999-06-01 00:00:00
abstract::Detecting silent cerebral infarcts on magnetic resonance images (MRIs) in children with sickle cell anemia is challenging, yet reproducibility of readings has not been examined in this population. We evaluated consensus rating, inter-, and intra-grader agreement associated with detecting silent cerebral infarct on scr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813506491
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abstract::The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200418
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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::Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810389043
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abstract::A 13-month-old boy presented with repeated episodes of tongue biting during sleep. On evaluation, he was found to have hereditary chin trembling, a rare autosomal dominant condition characterized by continuous or intermittent tremulous activity of the mentalis muscle. This is the first report of this kind from India. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210111101
更新日期:2006-11-01 00:00:00
abstract::There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknow...
journal_title:Journal of child neurology
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更新日期:2006-03-01 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
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更新日期:2013-10-01 00:00:00
abstract::The currently available scales for quantitative measurement of the severity of childhood dystonia require human observer ratings and provide poor granularity in the scores for individual limbs. We evaluated the use of new-generation high-quality touchscreens (an iPad) according with the Fitts law, which is a mathemati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494265
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abstract::Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were ...
journal_title:Journal of child neurology
pub_type: 杂志文章
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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abstract::In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...
journal_title:Journal of child neurology
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abstract::Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200705
更新日期:1997-10-01 00:00:00
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
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abstract::Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 are two sides of the same coin. Both arise from mutations in the gene encoding myelin proteolipid protein. The disease spectrum for Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is extraordinarily broad, ranging from a spastic gait in the...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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abstract::Solitary tumefactive demyelination is rare in children, and the diagnosis is often conferred after brain biopsy. The authors report 3 children with solitary tumefactive demyelination and provide clinical and paraclinical clues to aid the clinician in reaching a diagnosis using a noninvasive approach. ...
journal_title:Journal of child neurology
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abstract::Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129...
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abstract::This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...
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