Abstract:
:Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse is not true. In fact, this mutation is also responsible for various other syndromes, such as Leigh syndrome, spinocerebellar degeneration, atypical Charcot-Marie-Tooth disease, and multiple truncal lipomas. We describe a child with the A8344G mutation of mitochondrial DNA and an unusual clinical, neuroradiologic, and biochemical phenotype, characterized by early-onset, nonprogressive cerebellar ataxia, and subclinical myoclonias in association with bilateral putaminal necrosis on magnetic resonance imaging and a reduction in complex V activity. Our case confirms the existence of a relationship between alteration in adenosine triphosphatase activity and basal ganglia involvement. We recommend that the possibility of a mitochondrial pathology should always be taken into consideration in the presence of bilateral symmetric lesions of the basal ganglia, even when the typical clinical picture is lacking. (J Child Neurol 2006;21:79-82).
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi Gdoi
10.1177/08830738060210010901subject
Has Abstractpub_date
2006-01-01 00:00:00pages
79-82issue
1eissn
0883-0738issn
1708-8283journal_volume
21pub_type
杂志文章abstract::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900315
更新日期:1994-07-01 00:00:00
abstract::The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170111101
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abstract::Metabolic disorders constitute an important cause of neurologic disease, including infantile epilepsy. The inability to characterize seizures and epilepsy syndromes precisely in infants impedes the recognition of features suggestive of specific underlying metabolic and neurodegenerative etiologies. Classification syst...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:
更新日期:2002-12-01 00:00:00
abstract::The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:
更新日期:2004-07-01 00:00:00
abstract::Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816630087
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abstract::Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy....
journal_title:Journal of child neurology
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doi:10.1177/088307389601100604
更新日期:1996-11-01 00:00:00
abstract::The attention-deficit disorder, with and without hyperactivity, is associated with defective attention, response inhibition and, in attention-deficit disorder with hyperactivity, with motor restlessness. In adults, inattention, defective response inhibition, and impersistence are more commonly seen in right hemisphere...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200207
更新日期:1997-02-01 00:00:00
abstract::Cochlear implantation has altered the life-course of thousands of children who have significant hearing loss. Since the United States Food and Drug Administration approved multichannel cochlear implants for children in 1989, growing numbers of parents are choosing this option for their offspring and seeking opportunit...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812442590
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abstract::The ethical issues concerning the use of fetal tissue as a source for organ transplantation has focused interest on anencephaly. For reasons that are not entirely clear, the incidence of anencephaly has been declining. As anencephaly is easily recognized and invariably fatal, mortality figures provide an excellent ref...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600403
更新日期:1991-10-01 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
doi:10.1177/088307389701200304
更新日期:1997-04-01 00:00:00
abstract::We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...
journal_title:Journal of child neurology
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doi:10.1177/08830738060210042301
更新日期:2006-04-01 00:00:00
abstract::Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210060901
更新日期:2006-06-01 00:00:00
abstract::Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307104
更新日期:2007-12-01 00:00:00
abstract::Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seiz...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810383982
更新日期:2011-04-01 00:00:00
abstract::Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819887597
更新日期:2020-03-01 00:00:00
abstract::We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180031401
更新日期:2003-03-01 00:00:00
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
pub_type: 杂志文章
doi:10.1177/0883073817701879
更新日期:2017-07-01 00:00:00
abstract::Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812453495
更新日期:2013-10-01 00:00:00
abstract::Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...
journal_title:Journal of child neurology
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doi:10.1177/088307389701200102
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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
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abstract::Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...
journal_title:Journal of child neurology
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journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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abstract::Minimal evidence exists about the risk of recurrent childhood acute ischemic stroke in patients subjected to a subsequent head or neck injury. Recurrent or multiple dissections have been demonstrated in select cases. Minor head trauma has also been associated with acute ischemic stroke. The objective of this study was...
journal_title:Journal of child neurology
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abstract::There are conflicting reports regarding the efficacy of trihexyphenidyl, an anticholinergic drug, for treatment of dystonia in cerebral palsy. The author hypothesized that trihexyphenidyl may be more effective in specific subgroups and performed a retrospective analysis of 31 children (8.2 ± 5.8 years) with dystonia f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810392582
更新日期:2011-07-01 00:00:00
abstract::High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
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更新日期:2019-07-01 00:00:00
abstract::Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200308
更新日期:1987-07-01 00:00:00
abstract::To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...
journal_title:Journal of child neurology
pub_type: 杂志文章
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更新日期:2006-11-01 00:00:00
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
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abstract::Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...
journal_title:Journal of child neurology
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abstract::Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...
journal_title:Journal of child neurology
pub_type: 杂志文章
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