Abstract:
:Mitochondrial oxidation of a variety of substrates produces the bulk of energy requirements for most cell types. Impairment of oxidative metabolism may result in a broad spectrum of clinical signs and symptoms. A disorder of oxidative metabolism should be suspected when an unexplained association of signs and symptoms occurs, particularly when it is progressive, involving organs with no common embryologic origin. Encephalopathy and myopathy are a particularly suspect combination. Numerous specific disorders affect oxidative metabolism. Lactate elevation frequently occurs and additional laboratory abnormalities often assist in focusing investigation. Diagnostic specificity may require, in addition to the blood and urine studies, tissue sampling, cerebral imaging, in vivo studies of tissue energetics, or molecular genetic analysis.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Breningstall GNdoi
10.1016/0887-8994(93)90041-asubject
Has Abstractpub_date
1993-03-01 00:00:00pages
81-90issue
2eissn
0887-8994issn
1873-5150pii
0887-8994(93)90041-Ajournal_volume
9pub_type
杂志文章,评审abstract:BACKGROUND:The aim of this study was to assess the sensibility of the hand in children with a neonatal brachial plexus palsy (NBPP) involving the C5 and C6, and to correlate results with dexterity. METHODS:Fifty children with NBPP (30 after nerve surgery, mean age 9.8 years) and 25 healthy controls (mean age 9.6 years...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.04.006
更新日期:2018-09-01 00:00:00
abstract:BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.01.016
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:The identification of a biomarker for sudden unexpected death in epilepsy (SUDEP) has the potential to save lives. Generalized convulsive seizures and postictal generalized suppression on electroencephalography (EEG) most often precede sudden unexpected death in epilepsy (SUDEP) and are potential biomarkers....
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.06.018
更新日期:2017-11-01 00:00:00
abstract::Searching for a tool to quantify motor impairment in spina bifida, transcranial and lumbar magnetic stimulation were applied in affected newborn infants. Lumbar magnetic stimulation resulted in motor evoked potentials in both the quadriceps muscle and the tibialis anterior muscle in most (11/13) subjects. However, tra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.06.016
更新日期:2006-02-01 00:00:00
abstract::A patient with angiodysgenetic necrotizing encephalopathy or diffuse meningocerebral angiomatosis complicated by intraventricular hemorrhage, posthemorrhagic hydrocephalus, and signs of heart failure is reported. The hydrocephalus and cardiomegaly were diagnosed by fetal ultrasonography. Based on these pathologic find...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00004-5
更新日期:1996-02-01 00:00:00
abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.001
更新日期:2010-08-01 00:00:00
abstract::A prospective study of the efficacy of seizure cessation by phenobarbital versus phenytoin administration utilized both clinical and electroencephalographic expressions of seizure behaviors. The phenomenon of uncoupling was defined as the persistence of electrographic seizures despite the suppression of >or=50% clinic...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0887-8994(02)00621-5
更新日期:2003-04-01 00:00:00
abstract::The clinical course and autopsy findings of 2 patients with measles encephalitis that occurred during the 1988-1989 Houston epidemic are reported. A previously healthy 25-month-old boy had serologically-proved measles, hemophagocytic syndrome, and acute disseminated demyelinating encephalitis. A 19-year-old male with ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90046-4
更新日期:1990-03-01 00:00:00
abstract::Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.12.001
更新日期:2013-04-01 00:00:00
abstract::A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90075-n
更新日期:1993-07-01 00:00:00
abstract::Central nervous system tumors occur considerably less often in the fetus and neonate than in the older child. They are not entirely the same as those present later in life. Their location, biologic behavior, response to therapy, and histologic types are different. Fetal and neonatal brain tumors (n = 250) were collect...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00459-9
更新日期:2002-11-01 00:00:00
abstract::CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindne...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2017.01.034
更新日期:2017-04-01 00:00:00
abstract::Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90072-7
更新日期:1992-05-01 00:00:00
abstract:BACKGROUND:Herpes simplex virus encephalitis can manifest as a range of clinical presentations including classic adult, neonatal, and biphasic chronic-granulomatous herpes encephalitis. METHOD:We report an infant with granulomatous herpes simplex virus type 2 encephalitis with a subacute course and multicystic encepha...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.12.008
更新日期:2014-04-01 00:00:00
abstract::About 5-10% of school-age children manifest migraine headaches. Treatment options for pediatric migraine are limited. Topiramate is approved for migraine prophylaxis in adults, but its use in children is limited. We retrospectively reviewed the records of 37 patients, i.e., 22 (60%) girls and 15 (40%) boys (mean age, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.04.020
更新日期:2009-09-01 00:00:00
abstract::To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.01.008
更新日期:2005-07-01 00:00:00
abstract::This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.12.032
更新日期:2013-05-01 00:00:00
abstract:BACKGROUND:Posterior ischemic optic neuropathy results from ischemia of the retrobulbar aspect of the optic nerve. It presents as acute loss of vision without optic disc swelling. This is rare in children, with only seven cases reported to date. Neuroimaging is frequently used to aid in the diagnosis of acute visual co...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.03.014
更新日期:2018-07-01 00:00:00
abstract::Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90048-2
更新日期:1986-07-01 00:00:00
abstract:PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.08.008
更新日期:2014-01-01 00:00:00
abstract::The mechanisms of death and neurologic sequelae in African children with cerebral malaria are undetermined. Because pathologic features are confined to the cerebral vasculature, perturbations in cerebral hemodynamics may be responsible. We compared the transcranial Doppler findings in 50 children with cerebral malaria...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00115-4
更新日期:1996-07-01 00:00:00
abstract:BACKGROUND:Acute encephalitis and encephalopathy are life-threatening diseases in children. However, no laboratory examinations are performed for their early diagnosis and treatment. Alpha 2-macroglobulin (α2M) is a blood glycoprotein that increases during the early stages of inflammation. In the present study, we inve...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.04.020
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Concern exists regarding a possible harmful impact of vacuum extraction on the preterm newborn. We aimed to evaluate the long-term pediatric neurodevelopmental outcomes of the preterm offspring after vacuum extraction. METHODS:A population-based cohort analysis was performed comparing the risk for long-term...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2018.12.010
更新日期:2019-05-01 00:00:00
abstract::Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(85)90010-4
更新日期:1985-01-01 00:00:00
abstract:BACKGROUND:We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function. METHODS:We performed a cross-sectional survey of children registered as having cer...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.01.002
更新日期:2016-05-01 00:00:00
abstract:BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.01.033
更新日期:2017-05-01 00:00:00
abstract::Eleven children, 4-48 months old, with congenital cyanotic heart defects developed choreoathetoid movements 2-12 days after cardiac surgery with hypothermia and extracorporeal circulation (ECC). The abnormal movements mainly involved the limbs, facial musculature, and tongue, leading to a severe dysphagia. The symptom...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00036-8
更新日期:1998-08-01 00:00:00
abstract::Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90085-y
更新日期:1991-05-01 00:00:00
abstract::Subclinical rhythmic electroencephalogram (EEG) discharge is an uncommon rhythmic EEG pattern that has been reported to occur in adults. It is thought to be a nonspecific finding with little clinical significance. This article reports this EEG pattern in two children and suggests it be called subclinical rhythmic EEG ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00238-7
更新日期:2001-04-01 00:00:00
abstract::Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and require...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.11.009
更新日期:2012-02-01 00:00:00