Abstract:
BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with clinical phenotypes, ages of onset, and pathologic findings. METHODS:A structured MEDLINE search was performed using search strings incorporating relevant Medical Subject Headings (MeSH) terms. Studies of NCL patients with genetic, clinical, and histologic data were included. Individual patient data were extracted. Chi-square statistic was used to test the genotype differences in clinical phenotypes and histology. The distribution of age(s) of onset as a function of genotype was explored. Pairwise comparisons were performed with robust analysis of variance. RESULTS:Sixty-eight studies including a total of 440 individuals with NCL were analyzed. Genetic testing was performed on 395 patients, and a pathologic mutation was identified in 372 of 395 of them. A significant clustering of genotypes into juvenile-onset (only CLN3) and infantile-onset (all others) phenotypes was observed (P < 0.0001). However, the CLN6 genotype showed a bimodal onset and included 14 of 17 subjects with the adult-onset phenotype. The estimated age of onset was respectively lower for subjects with CLN1 mutation (3.01 years, 95% confidence interval [CI] = 2.54 to 3.49) and higher for those with CLN6 mutation (16.33 years, 95% CI = 15.68 to 16.98), compared with other genotypes (P < 0.05 for pairwise comparisons). There was a significant (P < 0.0001) clustering of genotype observed according to the sampled tissue types and electron microscopic findings. CONCLUSIONS:NCL genotypes significantly differ in terms of ages of onset and clinical phenotypes. There is a distinct segregation of genotypes and electron microscopic findings and high-yield tissue types for pathologic study. This information can possibly facilitate testing and diagnosis in resource-limited settings.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Aungaroon G,Hallinan B,Jain P,Horn PS,Spaeth C,Arya Rdoi
10.1016/j.pediatrneurol.2016.03.018subject
Has Abstractpub_date
2016-07-01 00:00:00pages
42-48.e4eissn
0887-8994issn
1873-5150pii
S0887-8994(15)30358-1journal_volume
60pub_type
杂志文章,meta分析,评审abstract::The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00187-5
更新日期:1995-11-01 00:00:00
abstract::An adolescent girl with systemic lupus erythematosus presented with selective brainstem dysfunction as the initial sign of central nervous system involvement. Although computed tomography was initially normal, magnetic resonance imaging demonstrated multiple, large brainstem lesions. Serial magnetic resonance imaging,...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90061-5
更新日期:1990-05-01 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::The causes of sixth nerve palsies in 75 children, all of whom had undergone modern neuroimaging, were reviewed. Neoplasms or their neurosurgical removal was the most common cause (n = 34 [45%]); elevated intracranial pressure (nontumor) (15%), traumatic (12%), congenital (11%), inflammatory (7%), miscellaneous (5%), a...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(98)00090-3
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abstract:BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.10.007
更新日期:2020-03-01 00:00:00
abstract::We report a 13-year-old female with refractory frontal lobe epilepsy in whom diffusion tensor imaging was useful for exploring subtle cortical malformation. She had frequent simple partial seizures characterized by clonic movement of the right upper extremity. Conventional magnetic resonance imaging was not conclusive...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.03.010
更新日期:2004-09-01 00:00:00
abstract::The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.09.003
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abstract::Central neurogenic hyperventilation refers to progressive tachypnea leading to hypocarbia and respiratory alkalosis caused by cortical disorders, initially reported in comatose patients with mainly pontine infarction. Central neurogenic hyperventilation in conscious patients is even rarer, numbering around 30 reported...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2003.10.003
更新日期:2004-04-01 00:00:00
abstract::In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.07.013
更新日期:2005-02-01 00:00:00
abstract::The aim of this study is to further clarify ictal electroencephalographic findings of patients with benign partial epilepsy in infancy in order to better understand its neurophysiologic features. The study group consisted of 13 infants with definite benign partial epilepsy in infancy, in whom ictal electroencephalogra...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.08.004
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Sleep problems affect 30% to 80% of patients with mild traumatic brain injury. We assessed the prevalence of sleep disorders after mild traumatic brain injury and its correlation with other symptoms. METHODS AND MATERIALS:Individuals with mild traumatic brain injury were assessed at the New York University ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2015.12.019
更新日期:2016-04-01 00:00:00
abstract::The clinical course of anti-muscle specific kinase-positive myasthenia in children has been little reported. Described here is the case of an 8 year-old boy who presented with ptosis and generalized weakness, which resolved within 1 month without any immunomodulatory treatment. This spontaneous remission lasted 6 year...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.11.014
更新日期:2009-06-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.12.011
更新日期:2005-05-01 00:00:00
abstract:OBJECTIVE:A single-center, single-blind, parallel-group, randomized clinical trial was performed to test the null hypothesis that adrenocorticotropic hormone is not superior to high-dose prednisolone for treatment of newly diagnosed West syndrome. METHODS:Newly diagnosed infants with West syndrome were randomized to r...
journal_title:Pediatric neurology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.pediatrneurol.2015.05.004
更新日期:2015-09-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90039-2
更新日期:1992-03-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90120-p
更新日期:1990-07-01 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::Subclinical rhythmic electroencephalogram (EEG) discharge is an uncommon rhythmic EEG pattern that has been reported to occur in adults. It is thought to be a nonspecific finding with little clinical significance. This article reports this EEG pattern in two children and suggests it be called subclinical rhythmic EEG ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00238-7
更新日期:2001-04-01 00:00:00
abstract::We report a female who was diagnosed with Wegener's granulomatosis at 4 years of age with life-threatening intracranial bleeding. The patient's serum was positive for c-antineutrophilic cytoplasmic antibodies, and histologic analysis of the lung biopsy revealed evidence of granulomatous vasculitis. Initial treatment w...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00392-2
更新日期:2002-07-01 00:00:00
abstract::This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.12.032
更新日期:2013-05-01 00:00:00
abstract::We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutatio...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.11.012
更新日期:2012-02-01 00:00:00
abstract:BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child w...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.05.013
更新日期:2016-10-01 00:00:00
abstract:PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...
journal_title:Pediatric neurology
pub_type: 共识发展会议,杂志文章,评审
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更新日期:2017-04-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
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更新日期:1995-05-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.05.016
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineu...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2014.09.015
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT:We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformati...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.02.019
更新日期:2014-07-01 00:00:00
abstract::The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.06.001
更新日期:2009-12-01 00:00:00
abstract::The use of lipid-lowering statins has been associated with raised serum muscle enzymes and, occasionally, with rhabdomyolysis, especially in patients with pre-existing metabolic myopathies. The A3243G mutation is one of the most common mutations associated with mitochondrial disorders. A teenager harboring the A3243G ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.09.002
更新日期:2008-12-01 00:00:00
abstract::We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.03.015
更新日期:2010-08-01 00:00:00