Abstract:
:Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child, who presented with regression of milestones, recurrent seizures and spasticity from second year of life. Initially neurodegenerative disorder was considered and the case was investigated with neuroimaging and enzyme levels. Computed tomography (CT) of the brain showed hypodensities in the corpus callosum and bilateral periventricular and deep cerebral white matter suggestive of neurodegenerative disorder. Subsequently, magnetic resonance imaging (MRI) of the brain was done, which showed symmetrical hyperintensities in the periventricular white matter with classical sparing of subcortical "U" fibers. The β-galactosidase enzyme activity was normal; however, the activity of aryl sulfatase A enzyme was undetectable, confirming the diagnosis of late infantile variant of metachromatic leukodystrophy.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Mahmood A,Chacham S,Reddy UN,Rao JN,Rao SPdoi
10.1177/0883073814542948subject
Has Abstractpub_date
2015-03-01 00:00:00pages
483-5issue
4eissn
0883-0738issn
1708-8283pii
0883073814542948journal_volume
30pub_type
杂志文章abstract::Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large in...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900410
更新日期:1994-10-01 00:00:00
abstract::Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073896011001S06
更新日期:1996-11-01 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::Congenital adrenal hyperplasia could provide a promising model for the study of the effects of hormones on cognition. The aim of this study was to assess sexual dimorphic abilities related to oral language, spatial abilities, and verbal fluency and to determine the existence of learning disabilities in 11 congenital g...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808315618
更新日期:2008-08-01 00:00:00
abstract::Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073815578526
更新日期:2015-10-01 00:00:00
abstract::Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812461946
更新日期:2014-01-01 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::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::Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812460581
更新日期:2013-10-01 00:00:00
abstract::The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811414420
更新日期:2012-02-01 00:00:00
abstract::The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800213
更新日期:1993-04-01 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 impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307987
更新日期:2008-01-01 00:00:00
abstract::This study was performed to determine the utility of 99mTc-hexamethylpropylenamine oxime (HMPAO) brain single photon emission computed tomography (SPECT) in evaluating patients with childhood absence epilepsy. Twenty-three patients (13 female, 10 male), aged 7 to 15 years (mean age 10.3 +/- 2.2), were studied. All pat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180080401
更新日期:2003-08-01 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::Clinical and subclinical seizures occur frequently among children with autistic spectrum disorders. Electrographic status epilepticus in sleep, or continuous spike-wave in slow-wave sleep, is a typical feature of acquired epileptic aphasia and Landau-Kleffner syndrome. Seizures and epilepsy are more common among child...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380401900106
更新日期:2004-08-01 00:00:00
abstract::A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810371226
更新日期:2010-11-01 00:00:00
abstract::Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535490
更新日期:2015-05-01 00:00:00
abstract::Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812452916
更新日期:2012-11-01 00:00:00
abstract::Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200705
更新日期:1997-10-01 00:00:00
abstract::We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by fun...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/088307389200700403
更新日期:1992-10-01 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 clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500605
更新日期:2000-06-01 00:00:00
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 cha...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900403
更新日期:2004-04-01 00:00:00
abstract::We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375116
更新日期:2011-02-01 00:00:00
abstract::The aim of this study was to investigate the clinical, demographic, and electromyographic (EMG) characteristics of 12 earthquake victims in the pediatric age group and to compare the findings with those of the adult group. Following the 1999 Marmara earthquake, 75 subjects with suspected peripheral nerve injury were r...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200030701
更新日期:2005-03-01 00:00:00
abstract::The purpose of this study was to determine the etiologic factors, clinical characteristics, seasonal distributions, family history, response to corticosteroid therapy, recurrence and residual paralysis rates, and factors affecting these in pediatric facial palsy. Patients aged <18 years diagnosed with acute peripheral...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819865682
更新日期:2019-12-01 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::Two boys, aged 7 and 12 years, with nondominant (right) hemispheric acquired vascular lesions and left visual-field disturbances had right spatial constructional disabilities, contralateral to that which would be expected. These unusual disturbances may represent the previously unreported phenomena of ipsilateral negl...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900109
更新日期:1994-01-01 00:00:00
abstract::Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807303252
更新日期:2007-05-01 00:00:00