Abstract：
:This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial disorders based on a suggestive clinical presentation and at least one accepted criteria, while in five patients the diagnosis remained probable. All patients had nervous system involvement, but it was the presenting symptom in 28 of 42. Eighteen children had normal intelligence and 24 had mental retardation or developmental delay at the onset of their disease. Twenty-five patients had either an acute regression or a progressive encephalopathy. The most frequent neurologic manifestations were abnormal tone, seizures, extrapyramidal movements, and autonomic dysfunction. The eyes were involved in 11 children. Nerve deafness was found in seven patients. Myopathy was found in only six patients. In conclusion, a complex neurologic picture, especially with other organ involvement, warrants a full mitochondrial evaluation.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Nissenkorn A,Zeharia A,Lev D,Watemberg N,Fattal-Valevski A,Barash V,Gutman A,Harel S,Lerman-Sagie Tdoi
10.1177/088307380001500110subject
Has Abstractpub_date
2000-01-01 00:00:00pages
44-8issue
1eissn
0883-0738issn
1708-8283journal_volume
15pub_type
杂志文章abstract：:Congenital lumbar spinal stenosis is believed to rarely cause neurologic symptoms during childhood. We present a 16-year-old boy with bilateral congenital clubfeet surgically corrected by tendo Achillis releases at 2 years of age who presented with progressive, bilateral footdrop. Magnetic resonance imaging of his lum...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380201700122
更新日期：2002-01-01 00:00:00
abstract：:This article assessed how Indian providers and mothers value quality of life in pediatric disabilities, hypothesizing lower values with increasing disability, lower values among providers than mothers, and lower values among mothers with versus mothers without a disabled child. We asked 175 participants: "If born tomo...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073818773941
更新日期：2018-08-01 00:00:00
abstract：:Extremely low birth weight premature infants are at risk for poor neurodevelopmental outcome. Postnatal dexamethasone has often been used in premature infants to prevent or treat bronchopulmonary dysplasia, and this drug is thought by some to affect neurodevelopmental outcome. We retrospectively examined the effect of...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073807309232
更新日期：2008-04-01 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：:Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in hu...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073894009001031
更新日期：1994-10-01 00:00:00
abstract：:A case of a 5-day-old newborn with rhizomelic chondrodysplasia punctata was investigated with multivoxel magnetic resonance spectroscopy, including chemical shift imaging maps, which disclosed a decrease in the choline peak and the choline signal intensity, respectively, in the right cerebral hemisphere. This is the s...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/08830738050200081401
更新日期：2005-08-01 00:00:00
abstract：:Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380201700111
更新日期：2002-01-01 00:00:00
abstract：AIM:To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. METHOD:We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073820911737
更新日期：2020-07-01 00:00:00
abstract：:We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073814533149
更新日期：2015-03-01 00:00:00
abstract：:To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073815575368
更新日期：2015-10-01 00:00:00
abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073814553272
更新日期：2015-07-01 00:00:00
abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073808314964
更新日期：2008-08-01 00:00:00
abstract：:Sixty-four children, aged 0-17 years, undergoing ambulatory electroencephalography (EEG) were prospectively recruited during a 12-month period. The diagnostic yield of ambulatory electroencephalography was determined for each of the following groups: group 1: differentiation of seizures from nonepileptic events; group...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073808314158
更新日期：2008-06-01 00:00:00
abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073810362762
更新日期：2010-11-01 00:00:00
abstract：:The prognosis in infants with brain tumors has historically been very poor. This study reviews 16 infants under the age of 12 months with brain tumors who presented to our institution between 1988 and 1999. The aim was to describe the clinical presentation, diagnosis, and management of these patients and to establish ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380401900605
更新日期：2004-06-01 00:00:00
abstract：:Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/08830738040190020201
更新日期：2004-02-01 00:00:00
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
pub_type： 杂志文章
doi：10.1177/0883073811435238
更新日期：2012-10-01 00:00:00
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
pub_type： 杂志文章
doi：10.1177/0883073810361382
更新日期：2010-05-01 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
更新日期：2002-11-01 00:00:00
abstract：:Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073817697847
更新日期：2017-06-01 00:00:00
abstract：:High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073808331360
更新日期：2009-12-01 00:00:00
abstract：:The goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380101600609
更新日期：2001-06-01 00:00:00
abstract：:Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073809338519
更新日期：2010-02-01 00:00:00
abstract：:The influence of severity of closed head injury and age on attentional functioning was prospectively investigated in 36 children (age range, 7 to 16 years) 6 months after injury. Children were placed into mild, moderate, and severe injury groups using established neurologic criteria. Each child received the Wechsler I...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307389300800410
更新日期：1993-10-01 00:00:00
abstract：:The ketogenic diet has traditionally been considered an anticonvulsant therapy of last resort, despite excellent efficacy and limited side effects. We hypothesized that the ketogenic diet would have similar results in patients with new-onset epilepsy. A retrospective study was conducted of patients started on the keto...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/08830738050200010501
更新日期：2005-01-01 00:00:00
abstract：:Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380101601213
更新日期：2001-12-01 00:00:00
abstract：:Direct perfusion of specific regions of the central nervous system by convection-enhanced delivery is becoming more widely used for the delivery of compounds in the research and treatment of various neural disorders. In contrast to other currently available central nervous system delivery techniques, convection-enhanc...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073808321064
更新日期：2008-10-01 00:00:00
abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307388900400107
更新日期：1989-01-01 00:00:00
abstract：:The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073813495960
更新日期：2013-09-01 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
