Abstract:
:A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory chain enzymes except complex II. Muscle histochemistry revealed diffuse cytochrome c oxidase deficiency. Southern blot analysis of mitochondrial DNA from muscle, liver, and blood showed a heteroplasmic single mitochindrial DNA deletion of 2.4 kb, which removed the genes for cytochrome c oxidase I and II and the transfer ribonucleic acid genes for serine and aspartic acid. Single large-scale deletions in mitochondrial DNA have been associated with Pearson's syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. This patient's presentation is unusual and suggests an overlap between Pearson's syndrome and Kearns-Sayre syndrome.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Akman CI,Sue CM,Shanske S,Tanji K,Bonilla E,Ojaimi J,Krishna S,Schubert R,DiMauro Sdoi
10.1177/088307380401900403subject
Has Abstractpub_date
2004-04-01 00:00:00pages
258-61issue
4eissn
0883-0738issn
1708-8283journal_volume
19pub_type
杂志文章abstract::We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive f...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073888003001s05
更新日期:1988-01-01 00:00:00
abstract::We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200507
更新日期:1997-08-01 00:00:00
abstract::Advances in intraoperative neuroelectrodiagnostic testing and microneurosurgical techniques have made it possible to accurately explore the brachial plexus of neonates. Since 1987, we have followed 250 infants with birth-related brachial plexus injuries, and successful operations have been completed on more than 70 in...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900202
更新日期:1994-04-01 00:00:00
abstract::A 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810382142
更新日期:2011-03-01 00:00:00
abstract::In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389601100408
更新日期:1996-07-01 00:00:00
abstract::Patients with neurofibromatosis 1 show neurocognitive deficits including abnormal visuospatial performance, but oculomotor behavior has not been studied. We recorded saccades in neurofibromatosis 1 and normal children, ages 6 to 12 years. Patients showed increased latency and diminished amplitude to more eccentric tar...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180050301
更新日期:2003-05-01 00:00:00
abstract::The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811420294
更新日期:2011-12-01 00:00:00
abstract::A review of the selective posterior rhizotomy procedure for reduction of spasticity in cerebral palsy is presented. The history of the procedure, selection of patients, operative technique, and results are described. The neurophysiologic basis for spasticity is considered, as well as the role of spasticity in the comp...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389000500303
更新日期:1990-07-01 00:00:00
abstract::Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the c...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073816643408
更新日期:2016-08-01 00:00:00
abstract::Acute necrotizing encephalopathy is characterized by fever, seizures, acute encephalopathy, and rapid progression to coma. It is usually associated with viral illness and shows characteristic brain magnetic resonance imaging features, including symmetrical involvement of bilateral thalami, brain stem, white matter, an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811435240
更新日期:2012-10-01 00:00:00
abstract::Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448837
更新日期:2013-05-01 00:00:00
abstract::Six girls between 2 years 9 months and 15 years of age with Rett syndrome were thoroughly investigated. Blood ammonia levels varied between 42 and 123 mumol/L, and serum lactate concentration was slightly elevated in two girls. Electroencephalograms showed a dysrhythmic pattern during wakefulness; during drowsiness an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389000500311
更新日期:1990-07-01 00:00:00
abstract::Apneic neonatal seizures can present as apparent life-threatening events. We report a newborn with unexplained episodes of apnea associated with cyanosis and desaturation, starting on the first day postpartum. Biochemical tests were normal. Central nervous system infections as well as abnormalities of upper airways an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813481403
更新日期:2014-07-01 00:00:00
abstract::Imaging findings of brain damage due to neonatal hypoglycemia are known; however, the effect of childhood hypoglycemia on the brain has not been described well. The authors present the case of a 6-year-old girl who had seizures secondary to hypoglycemia followed up for 1 year as epilepsy. The patient had experienced a...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300299
更新日期:2007-02-01 00:00:00
abstract::To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448531
更新日期:2013-05-01 00:00:00
abstract::Phantosmia is an infrequently reported and poorly understood qualitative olfactory disorder characterized by the perception of a frequently unpleasant odor in the absence of an odorant stimulus. Peripheral phantosmia is hypothesized to involve abnormally active olfactory receptor neurons while central phantosmia is th...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812450616
更新日期:2013-06-01 00:00:00
abstract::Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180011301
更新日期:2003-01-01 00:00:00
abstract::We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600207
更新日期:1991-04-01 00:00:00
abstract::Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073888003001s14
更新日期:1988-01-01 00:00:00
abstract::Seven children between 2 and 15 years of age with cerebral palsy and upper extremity dystonia were enrolled in an open-label, dose-escalation pilot clinical trial of botulinum toxin type B (Myobloc), injected into the biceps and brachioradialis muscles of I or both arms. The primary outcome measure was the change in m...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807299975
更新日期:2007-01-01 00:00:00
abstract::We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380048
更新日期:2011-03-01 00:00:00
abstract::Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180041301
更新日期:2003-04-01 00:00:00
abstract::A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/088307389501000209
更新日期:1995-03-01 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
更新日期:2012-06-01 00:00:00
abstract::Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814556887
更新日期:2015-09-01 00:00:00
abstract::This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738020170111705
更新日期:2002-11-01 00:00:00
abstract::Football injuries account for more concussions than any other sport in North America. A 1977 survey of high school football players in Minnesota found that 19% of players reported at least one concussion (characterized by loss of awareness) during a season. These results have not been confirmed in subsequent studies. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600203
更新日期:2001-02-01 00:00:00
abstract::Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400510
更新日期:1999-05-01 00:00:00
abstract::Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190010710
更新日期:2004-01-01 00:00:00
abstract::To determine if parents can successfully teach their children with autism spectrum disorders to become better sleepers, we piloted small group parent education workshops focused on behavioral sleep strategies. Workshops consisted of three 2-hour sessions conducted over consecutive weeks by 2 physicians. Curricula incl...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331348
更新日期:2009-08-01 00:00:00