Abstract:
:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magnetic resonance spectrscopy features of two cases with Sandhoff's disease. Magnetic resonance spectroscopy revealed findings indicating widespread demyelination in both cases and neuroaxonal loss and anaerobic metabolism in the second case. Magnetic resonance spectroscopy could provide useful information in the explanation of the clinical picture of cases with Sandhoff's disease.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac Kdoi
10.1177/08830738030180061201subject
Has Abstractpub_date
2003-06-01 00:00:00pages
425-8issue
6eissn
0883-0738issn
1708-8283journal_volume
18pub_type
杂志文章abstract::CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, an...
journal_title:Journal of child neurology
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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
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abstract::Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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更新日期:2010-01-01 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
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abstract::The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...
journal_title:Journal of child neurology
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abstract::We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but a...
journal_title:Journal of child neurology
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abstract::Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...
journal_title:Journal of child neurology
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abstract::Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200051501
更新日期:2005-05-01 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
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doi:10.1177/088307388800300208
更新日期:1988-04-01 00:00:00
abstract::To identify parent-reported symptoms that predict parenting stress in preschoolers with global developmental delay, 201 parents/guardians of 142 boys and 59 girls with global delay, mean age 39.1 months (range, 18 to 63 months) were studied retrospectively. Parents completed the following: (a) a semistructured intervi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811418230
更新日期:2012-03-01 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
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更新日期:2016-03-01 00:00:00
abstract::Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...
journal_title:Journal of child neurology
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更新日期:2000-12-01 00:00:00
abstract:OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820984067
更新日期:2021-01-04 00:00:00
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
doi:10.1177/0883073813520500
更新日期:2015-01-01 00:00:00
abstract::A pseudotumoral presentation of acute hemicerebellitis is rare in pediatric age. The authors report a new single case study of a 7-year-old child with pseudotumoral unilateral cerebellitis mimicking an intracranial tumor, which clinically presented itself with signs of intracranial hypertension and mild contralateral ...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2015-03-01 00:00:00
abstract::Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lac...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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更新日期:2003-02-01 00:00:00
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abstract::Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, an...
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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
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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
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abstract::To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...
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abstract::This study investigated the efficacy and tolerability of potassium bromide in 113 patients (aged, 1-20 years) with severe epilepsy and generalized tonic-clonic seizures. Potassium bromide was started at 45 mg/kg and raised to 70 mg/kg (median). Steady-state blood level was reached after a median of 28 days (range, 5-9...
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