Abstract:
:Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipase levels were significantly low in both the patients, compared with controls, suggesting a diagnosis of cholesterol ester storage disease. Ptosis and external ophthalmoplegia have hitherto not been reported in cholesterol ester storage disease.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri Ndoi
10.1177/0883073807307104subject
Has Abstractpub_date
2007-12-01 00:00:00pages
1401-4issue
12eissn
0883-0738issn
1708-8283pii
22/12/1401journal_volume
22pub_type
杂志文章abstract::Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807309775
更新日期:2008-05-01 00:00:00
abstract::Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807300532
更新日期:2007-03-01 00:00:00
abstract::To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389200700307
更新日期:1992-07-01 00:00:00
abstract::We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814533149
更新日期:2015-03-01 00:00:00
abstract::We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly desc...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073812474099
更新日期:2013-12-01 00:00:00
abstract::Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addr...
journal_title:Journal of child neurology
pub_type: 社论
doi:10.1177/0883073818790169
更新日期:2018-10-01 00:00:00
abstract::After an initial patient with cerebral palsy had an apparent dramatic reduction in spasticity when placed on modafinil, a pilot study was undertaken in 10 pediatric patients to confirm or refute the benefit of modafinil in cerebral palsy. Nine of 10 patients completed the 1-month treatment period. The study patients w...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700303
更新日期:2002-03-01 00:00:00
abstract::The purpose of this study was to assess the cognitive development of 27 children with nonhemorrhagic neonatal stroke (occurring within the first 28 days of life). The cognitive evaluation consisted of the Bayley Scales of Infant Development, administered at 12 and/or 24 months poststroke. Compared with the normative s...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807305784
更新日期:2007-09-01 00:00:00
abstract::To study the cognitive profile and scholastic performance of children with parenchymal neurocysticercosis. A total of 500 children with a diagnosis of neurocysticercosis and epilepsy registered in our pediatric neurocysticercosis clinic between January 1996 and December 2002 were enrolled. Patients were evaluated for ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818766985
更新日期:2018-06-01 00:00:00
abstract::The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813511855
更新日期:2014-12-01 00:00:00
abstract::A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/088307389901400310
更新日期:1999-03-01 00:00:00
abstract:AIM:To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. METHOD:We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820911737
更新日期:2020-07-01 00:00:00
abstract::More than half of neonatal stroke survivors have long-term sequelae, including seizures and neurological deficits. Although the immature brain has tremendous potential for recovery, mechanisms governing repair are essentially unexplored. We investigated whether magnetic resonance imaging (MRI) early or late after tran...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811408308
更新日期:2011-09-01 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
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::High-dose phenobarbital therapy is an effective treatment for refractory status epilepticus in children. The advantages of this therapy include milder adverse effects without limits for maximal phenobarbital levels or doses during the initial phase of treatment. However, little is known about the safety of continuing ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808331360
更新日期:2009-12-01 00:00:00
abstract::Acute infantile bilateral striatal necrosis is a rarely described acute neurological syndrome associated with radiological findings. Its etiology and pathogenic mechanisms are unknown. Clinically, the syndrome usually follows respiratory illnesses and presents with an array of neurological findings, including axial at...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304194
更新日期:2007-10-01 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::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::Behçet disease is a systemic vasculitis of unknown etiology that can affect the neurologic system. Neuro-Behçet disease is not well defined in children and adolescents, and the diagnosis is difficult to make in this population as they often present with insufficient symptoms to meet diagnostic criteria. Psychiatric sy...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813504137
更新日期:2014-09-01 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::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389400900315
更新日期:1994-07-01 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::Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterati...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809336877
更新日期:2010-03-01 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::Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600108
更新日期:1991-01-01 00:00:00
abstract::Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808323026
更新日期:2009-05-01 00:00:00
abstract::Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816630087
更新日期:2016-06-01 00:00:00
abstract::Sydenham's chorea results from group A streptococcus infection and subsequent generation of antineuronal antibodies directed at the caudate nucleus and putamen. Predominantly bilateral, in up to 30% of cases the chorea can be unilaterally restricted. Imaging studies, both structural (magnetic resonance imaging) and fu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400805
更新日期:1999-08-01 00:00:00
abstract::Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated n...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200031401
更新日期:2005-03-01 00:00:00