Abstract：
:A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly, an inguinal hernia repaired, early clawhand deformities, and severe generalized hypotonia. X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. This case is also a reminder to clinicians that for optimum patient care, further diagnostic testing is warranted if there is concern that a patient's phenotype is more severe or complex than would be expected for the initial neurogenetic diagnosis.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Burruss DM,Wood TC,Espinoza L,Dwivedi A,Holden KRdoi
10.1177/0883073811425860subject
Has Abstractpub_date
2012-06-01 00:00:00pages
786-90issue
6eissn
0883-0738issn
1708-8283pii
0883073811425860journal_volume
27pub_type
杂志文章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：:This study explored verbal, visual, motor, and tactile humor appreciation and comprehension among preschool children with epilepsy as compared with healthy children. Participants included 32 children with focal epilepsy, as well as 70 healthy controls. The results suggest that children with epilepsy assess humor dicho...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073811419259
更新日期：2012-03-01 00:00:00
abstract：:Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosi...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073812439346
更新日期：2013-01-01 00:00:00
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...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073812447286
更新日期：2013-04-01 00:00:00
abstract：:Using diffusion tensor imaging tractography and color-coded anisotropy map quantification, we investigated asymmetry of the arcuate fasciculus to determine language laterality in children and compared it with the Wada test. Arcuate fasciculus volume and fractional anisotropy were measured after tractography. We also q...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073811409225
更新日期：2011-12-01 00:00:00
abstract：:Despite the recent development of new antiepilepsy drugs, a significant number of children are still unable to achieve seizure freedom without side effects. Understanding the factors behind individual variability in antiepilepsy drug tolerability and dose response and incorporating these factors into a treatment plan ...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/08830738020170011301
更新日期：2002-01-01 00:00:00
abstract：:Behavioral and quantitative electroencephalography (EEG) techniques were used to evaluate treatment response to stimulant therapy in children with attention disorders. A sample of 130 children with attention disorders were evaluated with Conners and Diagnostic and Statistical Manual of Mental Disorders--III rating sca...
journal_title：Journal of child neurology
pub_type： 临床试验,杂志文章
doi：10.1177/088307389901400601
更新日期：1999-06-01 00:00:00
abstract：:We retrospectively analyzed the medical documentation of 194 children infected with Epstein-Barr virus. The diagnosis was based on clinical symptoms and the presence of the viral capsid antigen IgM antibody. Patients with severe neurologic complications also underwent neurologic examination, magnetic resonance imaging...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073815613563
更新日期：2016-05-01 00:00:00
abstract：:Intracranial tumors are the most common solid tumors in children. The infratentorial compartment will be the primary site for 60% to 70% of these tumors, including astrocytomas, medulloblastomas, and ependymomas. Several technological advancements have increased our knowledge of the cell biology of pediatric brain tum...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073808321768
更新日期：2008-10-01 00:00:00
abstract：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380001501212
更新日期：2000-12-01 00:00:00
abstract：:We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/08830738030180031401
更新日期：2003-03-01 00:00:00
abstract：:The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabo...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073811416363
更新日期：2012-01-01 00:00:00
abstract：:Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073813483173
更新日期：2013-06-01 00:00:00
abstract：:Duchenne muscular dystrophy results in a broad spectrum of physical and psychosocial consequences, both to patient and caregivers. This study was aimed to explore health-related quality of life and its possible determinants in Duchenne muscular dystrophy children and in their parents. Caregivers (21 mothers and 6 fath...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073810389043
更新日期：2011-06-01 00:00:00
abstract：:Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073809356108
更新日期：2010-08-01 00:00:00
abstract：:The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/088307389801300801
更新日期：1998-08-01 00:00:00
abstract：:Subacute sclerosing panencephalitis (SSPE) typically presents with progressive mental deterioration, behavioral changes, and myoclonic jerks. Atypical presentations are not unknown and may result in diagnostic delays. A 9-year-old girl presented with poor balance and ataxia following an episode of upper respiratory tr...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073808330184
更新日期：2009-07-01 00:00:00
abstract：:We report 10 years' follow-up of the previously described family with a novel mutation of the KCNA1 gene. The family consisted of 3 affected boys (first seen at ages 3, 11, and 12) and their affected mother and asymptomatic father and sister. They clinically presented with diffuse myokymia, muscle cramps, and lower li...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073812457461
更新日期：2013-11-01 00:00:00
abstract：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073809332766
更新日期：2009-12-01 00:00:00
abstract：:A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073809344119
更新日期：2010-06-01 00:00:00
abstract：:We describe the clinical utility of echo-planar diffusion-weighted imaging in neonatal cerebral infarction. Eight full-term neonates aged 1 to 8 days referred for neonatal seizures were studied. Patients were followed for a mean of 17 months with detailed neurologic examinations at regular intervals. Head computed tom...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380001500905
更新日期：2000-09-01 00:00:00
abstract：:The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/08830738020170111101
更新日期：2002-11-01 00:00:00
abstract：:Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380001500805
更新日期：2000-08-01 00:00:00
abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073810362762
更新日期：2010-11-01 00:00:00
abstract：:Although much attention has been focused on the neurological sequelae of the hereditary ataxias, patients with these conditions also may develop cardiac complications that represent a significant cause of disability and even death. In this article, the authors describe the hereditary ataxias with known cardiac involve...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073812449382
更新日期：2012-09-01 00:00:00
abstract：:Vigabatrin is an antiepileptic drug that results in higher gamma-aminobutyrate levels in the brain and retina. Vigabatrin-induced visual field defects are usually asymptomatic and only detectable by perimetry. Further, perimetry requires good cooperation, and children aged under 10 years cannot do it. Electroretinogra...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073813490073
更新日期：2014-06-01 00:00:00
abstract：:Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/088307380001501005
更新日期：2000-10-01 00:00:00
abstract：:Torticollis refers to a twisting of the head and neck caused by a shortened sternocleidomastoid muscle, tipping the head toward the shortened muscle, while rotating the chin in the opposite direction. Torticollis is seen at all ages, from newborns to adults. It can be congenital or postnatally acquired. In this review...
journal_title：Journal of child neurology
pub_type： 杂志文章,评审
doi：10.1177/0883073812469294
更新日期：2013-03-01 00:00:00
abstract：:Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...
journal_title：Journal of child neurology
pub_type： 杂志文章
doi：10.1177/0883073809338213
更新日期：2009-09-01 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
