Abstract:
:We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Sakuta R,Honzawa S,Murakami N,Goto Y,Nagai Tdoi
10.1016/s0887-8994(02)00456-3subject
Has Abstractpub_date
2002-11-01 00:00:00pages
397-400issue
5eissn
0887-8994issn
1873-5150pii
S0887899402004563journal_volume
27pub_type
杂志文章abstract::The outcomes of 60 children unconscious for 90 days or longer following acquired brain injury are reported. Eight children who died had remained in persistent vegetative states. As expected, most neurologic improvement occurred within the first year after injury, although some delayed improvements were observed. Outco...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90104-k
更新日期:1993-09-01 00:00:00
abstract::Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.07.006
更新日期:2007-11-01 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::We report on the successful use of electroconvulsive therapy in a 13-year-old boy with congenital hydrocephalus, a history of multiple shunt revisions, and a stable prepontine arachnoid cyst, who experienced profound catatonic deterioration. After initial shunt placement at age 20 months, the patient had followed norm...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.03.011
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.06.003
更新日期:2013-12-01 00:00:00
abstract::Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosis with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comprehensive standardized computerized database containing more than 2,500 patients examined consecutively by a ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00220-2
更新日期:1996-10-01 00:00:00
abstract::Positron emission tomography (PET) using 18F-labeled 2-deoxy-D-glucose was performed serially in 5 infants with idiopathic West syndrome. While tonic spasms persisted, 2 infants had hypometabolism in the bilateral temporo-parieto-occipital regions, which disappeared after cessation of spasms. In 2 other infants, PET r...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90021-4
更新日期:1993-11-01 00:00:00
abstract::A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90075-5
更新日期:1986-11-01 00:00:00
abstract::Dandy-Walker cyst associated with occipital meningocele is very rare. Only 12 patients have been reported. We report a female infant with Dandy-Walker cyst and occipital meningocele whose diagnosis was suspected antenatally by in utero ultrasonography. At birth, head circumference was normal for 37 weeks gestation. Sh...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90071-4
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND:Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHOD...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.06.006
更新日期:2017-12-01 00:00:00
abstract::Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.09.020
更新日期:2009-02-01 00:00:00
abstract::Melioidosis from Pseudomonas pseudomallei is common in endemic areas (particularly southeast Asia) and is being recognized with increasing frequency in developed countries. Central nervous system involvement is a rare complication with a high mortality. A patient with multiple cerebral abscesses caused by this organis...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(89)90010-6
更新日期:1989-01-01 00:00:00
abstract::A case of alternating hemiplegia of childhood is reported. Tonic fits and generalized tonic-clonic seizures developed during her infancy. Frequent twitching and apneic seizures appeared at 16 years of age. Zonisamide transiently suppressed the tonic, twitching and apneic seizures, as well as the facial and neck dyston...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00016-2
更新日期:1998-07-01 00:00:00
abstract::The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00024-0
更新日期:1996-04-01 00:00:00
abstract::This study assessed the utility of rectal diazepam gel in the home management of prolonged or repetitive seizures in children. Thirty-eight children being prescribed rectal diazepam gel by their clinician were prospectively recruited. Seizures, rectal diazepam use, emergency department visits, and quality of life data...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.03.005
更新日期:2005-09-01 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::Acute encephalopathy with biphasic seizures and late reduced diffusion was recently established clinicoradiologically as an encephalopathy syndrome. The outcome of this encephalopathy is characterized by a low mortality rate and high incidence of neurologic sequelae. Although the exact pathogenesis of this encephalopa...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.11.003
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title:Pediatric neurology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.pediatrneurol.2018.03.007
更新日期:2018-06-01 00:00:00
abstract::Visual evoked potentials (VEPs) were recorded in 32 children (ages 4 months to 5 years) who were clinically diagnosed as being cortically blind. None of the children had visual or neurologic abnormalities prior to the precipitating insult which included surgery (N = 15), trauma (N = 3), infectious disease (N = 5), hyp...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90006-7
更新日期:1991-03-01 00:00:00
abstract::Guillain-Barré syndrome and acute myelitis represent common and very rare etiologies of acute limb weakness in children, respectively. Typically, demyelination is most common, limited to either the central or peripheral nervous system. Concurrent acute myelitis and Guillain-Barré syndrome are seldom reported. We retro...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.08.013
更新日期:2011-02-01 00:00:00
abstract::The frequency and severity of neurologic symptoms in children with systemic cancer is unknown. The authors reviewed the records of children with systemic cancer for whom a neurologic consultation was requested between 1993 and 1996. The 157 patients had 161 malignancies and 205 consultations. Leukemia (59) and lymphom...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00114-3
更新日期:1999-02-01 00:00:00
abstract::The single photon emission computed tomography (SPECT) findings in 2 patients with opsoclonus-myoclonus syndrome (OMS) who had similar symptoms in the acute stage of the disease are described. In 1 patient with encephalitis, SPECT showed increased blood flow in most of the cerebellum; the highest accumulation of the r...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00031-3
更新日期:1997-05-01 00:00:00
abstract::An 11-year-old male was admitted with inability to walk and speech abnormality. He was diagnosed with subacute sclerosing panencephalitis on the basis of clinical and laboratory findings. Therapy with inosiplex (100 mg/kg/day orally) plus intrathecal interferon-alpha (3 million units/dose twice per week) and ribavirin...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00040-7
更新日期:2003-07-01 00:00:00
abstract::Normal development of the central nervous system depends on complex, dynamic mechanisms with multiple spatial and temporal components during gestation. Neurodevelopmental disorders may originate during fetal life from genetic as well as intrauterine and extrauterine factors that affect the fetal-maternal environment. ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2007.10.009
更新日期:2008-03-01 00:00:00
abstract::Pregabalin is a new antiepileptic drug that acts at presynaptic calcium channels, modulating neurotransmitter release. We report on treating consecutive children with severe drug-resistant epilepsy in a prospective, open-label, add-on trial. Nineteen children (63% male) aged 4-15 years (mean, 9.7; S.D., 2.9) were incl...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/j.pediatrneurol.2008.12.016
更新日期:2009-05-01 00:00:00
abstract::A newborn infant with seizures of unknown etiology that were refractory to treatment with phenobarbitone, phenytoin, midazolam, clonazepam, and vigabatrin is reported. The introduction of the new antiepileptic drug lamotrigine was followed by rapid and sustained control of the seizures. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00125-8
更新日期:1999-02-01 00:00:00
abstract::Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00001-v
更新日期:1995-02-01 00:00:00
abstract::Continuous electroencephalographic monitoring often detects nonconvulsive seizures in critically ill children, but it is resource-intense and has not been demonstrated to improve outcomes. As institutions develop clinical pathways for monitoring, they should consider how seemingly minor variations may exert substantia...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.12.009
更新日期:2012-03-01 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::Approximately 25% of sufferers of retinal migraine are thought to have a positive family history. Retinal migraines can cause both transient, and rarely permanent, unilateral monocular visual loss. This report of familial retinal migraines furthers our understanding of this particular migraine subtype. Two families wi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2003.12.013
更新日期:2004-05-01 00:00:00