Abstract:
:G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heterozygote (M1V/Y37N). The M1V mutation was previously described in an African-American child with acute infantile G(M2)-gangliosidosis. The Y37N mutation is novel. This combination of mutations is consistent with juvenile-onset disease, and provides further evidence for the association of the M1V mutation with individuals of black ancestry. The presence of oculomotor abnormalities is an unusual finding in this form of G(M2)-gangliosidosis, and adds to the phenotypic spectrum.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Paciorkowski AR,Sathe S,Zeng BJ,Torres P,Rosengren SS,Kolodny Edoi
10.1016/j.pediatrneurol.2007.12.004subject
Has Abstractpub_date
2008-04-01 00:00:00pages
284-6issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(07)00590-5journal_volume
38pub_type
杂志文章abstract:BACKGROUND:Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP). METHODS:Hearing impairment was assessed in a registry-derived population-based sample of children with CP. RESULTS:Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.07.005
更新日期:2014-11-01 00:00:00
abstract::We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.07.005
更新日期:2008-10-01 00:00:00
abstract::Cefepime toxicity is characterized by altered mental status, confusion, and decreased responsiveness. We describe a 14-year-old girl who developed acute encephalopathy associated with supratherapeutic cefepime concentrations in the setting of acute renal failure. The authors were unable to identify any previous report...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.08.017
更新日期:2012-12-01 00:00:00
abstract::Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.06.007
更新日期:2010-11-01 00:00:00
abstract::Many investigators have identified localized cortical involvement in subacute sclerosing panencephalitis (SSPE) by clinical and electrophysiologic criteria. Some investigators have reported such abnormalities in the posterior cerebrum early in the course of the disease, but without radiologic correlation. Recently, ma...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(87)90074-9
更新日期:1987-09-01 00:00:00
abstract::Acute encephalopathy with biphasic seizures and late reduced diffusion was recently established clinicoradiologically as an encephalopathy syndrome. The outcome of this encephalopathy is characterized by a low mortality rate and high incidence of neurologic sequelae. Although the exact pathogenesis of this encephalopa...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.11.003
更新日期:2013-03-01 00:00:00
abstract::Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies repor...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00227-0
更新日期:1998-05-01 00:00:00
abstract::The updated American Heart Association/American Stroke Association guidelines include recommendation for thrombectomy in certain adult stroke cases. The safety and efficacy of thrombectomy in children are unknown. An 8-year-old girl experienced acute stroke symptoms on two occasions while therapeutically anticoagulate...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2016.09.007
更新日期:2017-01-01 00:00:00
abstract::Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment. ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00056-2
更新日期:1996-05-01 00:00:00
abstract::A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(99)00075-2
更新日期:1999-10-01 00:00:00
abstract:BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.03.013
更新日期:2020-09-01 00:00:00
abstract::Child neurology has evolved from a primarily diagnostic to a therapeutic subspecialty. Despite well-documented manpower shortages, child neurology programs at major children's hospitals have expanded, and the optimal administrative structure for child neurology programs has not been clearly defined. The Division of Ch...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.07.007
更新日期:2011-01-01 00:00:00
abstract::We report a 4-year-old, left-handed male with focal coxsackievirus A3 encephalitis who presented with seizures and acquired aphasia. Electroencephalography exhibited focal spike discharges over the right frontal regions, but cranial magnetic resonance imaging did not reveal any structural abnormalities. However, brain...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00206-x
更新日期:2000-11-01 00:00:00
abstract::This paper reports 26 consecutive cases of cerebral cysticercosis in children, 21 presenting with intraparenchymal mass lesions, two with encephalitic disease, and three with intraventricular (racemous) cysticercosis. The intraparenchymal and encephalitic forms of the disease were benign. Regression of the lesions occ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(85)90054-2
更新日期:1985-05-01 00:00:00
abstract::Fifteen children, 8 months of age or older, from a neonatal follow-up program underwent magnetic resonance imaging and neurologic, cognitive, and language evaluations. Magnetic resonance imaging findings in all children included increased white matter signal on T2-weighted images and ventricular enlargement adjacent t...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90020-2
更新日期:1990-09-01 00:00:00
abstract::Reversible posterior leukoencephalopathy syndrome is a recently recognized disorder with characteristic radiologic findings that mainly involve the white/gray matter of the parieto-occipital lobes. This complex syndrome is associated with cyclosporine A therapy or a variety of other conditions in which blood pressure ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00265-x
更新日期:2001-05-01 00:00:00
abstract::Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemic...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.07.011
更新日期:2006-03-01 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::A five-year-old white male presented with a history of progressive loss of vision that was subsequently followed by progressive corticospinal dysfunction. Evaluation revealed the presence of leukodystrophy which was confirmed by a deficiency of the enzyme, galactosylceramide beta-galactosidase. We present the clinical...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(85)80009-6
更新日期:1985-07-01 00:00:00
abstract::A 4 1/2-year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90013-1
更新日期:1989-01-01 00:00:00
abstract::Although acute disseminated encephalomyelitis has been observed after a variety of viral infections and an occasional bacterial infection, it has not been reported in association with rickettsial infections. Reported is a 7-year-old male with magnetic resonance images and clinical manifestations suggestive of acute di...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(99)00028-4
更新日期:1999-07-01 00:00:00
abstract:BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.04.006
更新日期:2016-08-01 00:00:00
abstract::Ischemic and hemorrhagic stroke can occur in the setting of pediatric trauma, particularly those with head or neck injuries. The risk of stroke appears highest within the first two weeks after trauma. Stroke diagnosis may be challenging due to lack of awareness or concurrent injuries limiting detailed neurological ass...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2019.12.009
更新日期:2020-07-01 00:00:00
abstract::Zonisamide is an antiepileptic drug developed and first marketed in Japan in 1989. Cases of oligohydrosis, characterized by deficient production and secretion of sweat, were reported in children treated with zonisamide in Japan during development and in the postmarketing period. Zonisamide was approved in the United S...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(02)00511-8
更新日期:2003-03-01 00:00:00
abstract::Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl as...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.04.015
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND:Proton magnetic resonance spectroscopy can be used to assess brain integrity and maturation with age. OBJECTIVE:To compare regional cerebral magnetic resonance spectroscopy metabolite ratios in extremely low birth weight and healthy term control infants measured at term-equivalent age and to evaluate associ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.03.011
更新日期:2014-07-01 00:00:00
abstract::Neonatal lupus erythematosus, characterized mainly by congenital heart block and transient skin lesions, is usually self-limited. A patient with history of neonatal lupus erythematosus and congenital heart block developed central nervous system vasculopathy resembling moyamoya disease and hypertension at 17 years of a...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00344-7
更新日期:2002-01-01 00:00:00
abstract::The frequency and severity of neurologic symptoms in children with systemic cancer is unknown. The authors reviewed the records of children with systemic cancer for whom a neurologic consultation was requested between 1993 and 1996. The 157 patients had 161 malignancies and 205 consultations. Leukemia (59) and lymphom...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00114-3
更新日期:1999-02-01 00:00:00
abstract:BACKGROUND:Acute flaccid myelitis (AFM) is a rare disease of young children. The typical presentation involves acute-onset flaccid paralysis in one or more extremities with a nonspecific viral prodrome. Long-term outcomes demonstrate that functional recovery plateaus around six to nine months. The purpose of this study...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.06.016
更新日期:2020-10-01 00:00:00
abstract::Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00260-3
更新日期:1997-01-01 00:00:00