Abstract:
:Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because of respiratory distress. A bone radiograph showed hypomineralization of all bones, and serum alkaline phosphatase was very low (10 U/L). Within the first day of life, seizures (focal clonic and tonic) started. The seizures were refractory to phenobarbital and other antiepileptic drugs. The first electroencephalogram (EEG) showed a burst-suppression pattern. Pyridoxine was administered (50 mg/kg) and completely controlled the seizures. Antiepileptic drugs were discontinued, and a maintenance dose of pyridoxine (10 mg/day) was established. A postpyridoxine EEG revealed the disappearance of the burst-suppression pattern. The patient died at age 26 days. Pyridoxine-dependent seizures, when recognized early and treated, have a more favorable prognosis. However, hypophosphatasia detected at birth almost always has a lethal outcome.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Nunes ML,Mugnol F,Bica I,Fiori RMdoi
10.1177/088307380201700314subject
Has Abstractpub_date
2002-03-01 00:00:00pages
222-4issue
3eissn
0883-0738issn
1708-8283journal_volume
17pub_type
杂志文章abstract::The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial beta-oxidation cycle. Carn...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:
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abstract::There is strong evidence for a loss of habituation during cognitive processing in migraine as measured by P300 and contingent negative variation in adults. Event-related potentials evoked by an oddball paradigm have not yet been studied in children and adolescents suffering from different primary headache types. We re...
journal_title:Journal of child neurology
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doi:10.1177/088307389801300703
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abstract::Behavioral and quantitative electroencephalography (EEG) techniques were used to evaluate treatment response to stimulant therapy in children with attention disorders. A sample of 130 children with attention disorders were evaluated with Conners and Diagnostic and Statistical Manual of Mental Disorders--III rating sca...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
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abstract::Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There...
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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,...
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abstract::In lieu of traditional training of examiners to identify cerebral palsy on a neurologic examination at age 1 year, we proposed an alternative approach using a multimedia training video and CD-ROM we developed after a two-step validation process. We hypothesized that use of CD-ROM interactive training will lead to reli...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
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abstract::Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...
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abstract::Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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doi:10.1177/088307380201700901
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abstract::The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...
journal_title:Journal of child neurology
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更新日期:2017-07-01 00:00:00
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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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doi:10.1177/08830738060210021601
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journal_title:Journal of child neurology
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doi:10.1177/088307388800300111
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journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375616
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journal_title:Journal of child neurology
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journal_title:Journal of child neurology
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doi:10.1177/088307389801301203
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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::Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction wi...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073898013001081
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVE:To quantify the number of personnel, time to induce and complete sedation using propofol for outpatient magnetic resonance imaging (MRI) of the brain, and the frequency of serious adverse events (SAEs) in children with autism spectrum disorder (ASD) compared with children without ASD. RESULTS:Baseline charac...
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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