Abstract:
:Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Saini AG,Singhi Pdoi
10.1177/0883073812447286subject
Has Abstractpub_date
2013-04-01 00:00:00pages
535-7issue
4eissn
0883-0738issn
1708-8283pii
0883073812447286journal_volume
28pub_type
杂志文章abstract::Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901401209
更新日期:1999-12-01 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::The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389300800105
更新日期:1993-01-01 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::Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738050200090901
更新日期:2005-09-01 00:00:00
abstract::Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of cur...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817722451
更新日期:2017-10-01 00:00:00
abstract::Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700314
更新日期:2002-03-01 00:00:00
abstract::Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700812
更新日期:2002-08-01 00:00:00
abstract:INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073819831179
更新日期:2019-06-01 00:00:00
abstract::Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing countries; hence, the need to evaluate the...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600405
更新日期:2001-04-01 00:00:00
abstract::An association between overweight and attention-deficit/hyperactivity disorder (ADHD) in children was previously suggested. We examined the prevalence of overweight, anthropometric changes, and the effect of methylphenidate treatment in 275 children with ADHD without neurological comorbidities and in controls. Data we...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810380051
更新日期:2011-03-01 00:00:00
abstract::The efficacy of modafinil in comparison with methylphenidate in treatment of pediatric attention-deficit hyperactivity disorder (ADHD) has not been thoroughly investigated. This study compared the effect of modafinil versus methylphenidate on continuous attention task in children with ADHD, using the Test of Variables...
journal_title:Journal of child neurology
pub_type: 杂志文章,随机对照试验
doi:10.1177/0883073812439101
更新日期:2012-12-01 00:00:00
abstract::Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200308
更新日期:1987-07-01 00:00:00
abstract:OBJECTIVE:Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS:Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073817712589
更新日期:2017-09-01 00:00:00
abstract::The aim of this study was to investigate the alteration of the gait pattern in 25 children with Duchenne muscular dystrophy, using body-worn inertial sensors during a long walking distance. Normalized spatiotemporal gait parameters and their variability were extracted from the angular velocity of the shanks; the smoot...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811413581
更新日期:2012-01-01 00:00:00
abstract::Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331364
更新日期:2009-08-01 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::Mercury poisoning is a rare but fatal toxicologic emergency. Neurologic manifestations involving the central nervous system are seen usually with chronic mercury intoxication. The most commonly seen complaints are headache, tremor, impaired cognitive skills, weakness, muscle atrophy, and paresthesia. Here, we present ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814538503
更新日期:2015-05-01 00:00:00
abstract::The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073891006001s12
更新日期:1991-01-01 00:00:00
abstract::In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812448229
更新日期:2012-09-01 00:00:00
abstract::We report the case of a 15-month-old critically ill child with stimulus-induced diffuse voltage attenuation, a previously unreported electroencephalogram pattern. No clinical evidence of seizure activity was associated with these EEG changes. The patient went on to have a full recovery. This case suggests that critica...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808324532
更新日期:2009-04-01 00:00:00
abstract::Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811402205
更新日期:2011-10-01 00:00:00
abstract::Acute vascular events are rare in the pediatric population, but there is an association with the presence of antiphospholipid antibodies. When there is no other underlying medical disorder, this is referred to as primary antiphospholipid syndrome. We present a case of a 15-year-old boy who developed an acute superior ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700517
更新日期:2002-05-01 00:00:00
abstract::Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extra...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073803018001S0601
更新日期:2003-09-01 00:00:00
abstract::Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magne...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738030180061201
更新日期:2003-06-01 00:00:00
abstract::Baclofen is widely used to control spasticity in children with cerebral palsy. Several publications described clinical adverse effects of baclofen oral treatment, but the effect of baclofen on seizure potentiation is still controversial. We describe a 10-year-old female patient with cerebral palsy, epilepsy, and menta...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809357243
更新日期:2010-10-01 00:00:00
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::A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375616
更新日期:2011-01-01 00:00:00
abstract::Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307380401900510
更新日期:2004-05-01 00:00:00
abstract::We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816664670
更新日期:2016-12-01 00:00:00