Abstract:
:The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by antenatal ultrasound, appears to have been of antenatal onset. The infant suffered an early demise and at autopsy showed features of a severe brain dysgenesis with polymicrogyria and superadded encephaloclastic features. Despite an extensive evaluation, the etiology of this condition remains elusive in our case. This case demonstrates that closer analysis of the qualitative features of fetal movements by, for instance, real-time ultrasound could aid in the antenatal diagnosis of neurologic, particularly convulsive, syndromes.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
du Plessis AJ,Kaufmann WE,Kupsky WJdoi
10.1177/088307389300800210subject
Has Abstractpub_date
1993-04-01 00:00:00pages
164-70issue
2eissn
0883-0738issn
1708-8283journal_volume
8pub_type
杂志文章abstract:AIM:To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity. METHODS:Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 201...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820964040
更新日期:2021-03-01 00:00:00
abstract::Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their first year of life. The median age of infantile spasms onset was 4.3 ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073818780105
更新日期:2018-09-01 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::Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388800300208
更新日期:1988-04-01 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::The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:
更新日期:2004-07-01 00:00:00
abstract::Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standa...
journal_title:Journal of child neurology
pub_type: 杂志文章,多中心研究
doi:10.1177/0883073807307975
更新日期:2008-02-01 00:00:00
abstract::A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500710
更新日期:2000-07-01 00:00:00
abstract::A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA anal...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001501108
更新日期:2000-11-01 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::Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389100600311
更新日期:1991-07-01 00:00:00
abstract::Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073809336130
更新日期:2010-01-01 00:00:00
abstract::Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400407
更新日期:1999-04-01 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::In general, people with learning disabilities are a heterogeneous population that require a multidisciplinary evaluation and careful, well-planned intervention. Despite this heterogeneity, patterns of problems often co-occur. Therefore, diagnosticians and educators should look beyond single areas of achievement such a...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738950100S102
更新日期:1995-01-01 00:00:00
abstract::The purpose of this study was to assess sleep, daytime sleepiness, and behavior problems in children suffering from headaches and in controls, with a special focus on the role of gender. A clinical group of 28 children with persistent headache complaints and a control group of 108 healthy children were included. Sleep...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/7010.2006.00239
更新日期:2006-12-01 00:00:00
abstract::Elevation and blur of the optic disc margin with hyperemia and flame hemorrhages are classic features of papilledema that may not be present with mild elevations of the cerebral spinal fluid pressure. In children, the disc can be dramatically elevated with indistinct margins in pseudopapilledema. Children with equivoc...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304192
更新日期:2007-07-01 00:00:00
abstract::We describe a case of pediatric Sjögren's syndrome with progressive neurologic involvement. At age 4 years, she had been diagnosed with Melkersson-Rosenthal syndrome. After being stable with facial diplegia and swelling for 5 years, she acutely presented with diplopia, vertigo, and ataxia. Cranial magnetic resonance i...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380101600911
更新日期:2001-09-01 00:00:00
abstract::Neurological disorders, including neurodevelopmental disorders, have been identified by the World Health Organization (WHO) as one of the greatest threats to global public health. It is generally believed that these conditions are more prevalent in the developing than the developed world because of multiple known risk...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073809357792
更新日期:2010-04-01 00:00:00
abstract::Sonography of the posterior fontanelle is easily performed and yields exquisite details of the outline of the major structures of the posterior fossa and the tentorium. These structures are more clearly outlined through the posterior fontanelle than via the traditional anterior fontanelle approach, probably because th...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073889004001s10
更新日期:1989-01-01 00:00:00
abstract::Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. Central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380201700215
更新日期:2002-02-01 00:00:00
abstract::We report the clinical course of a 4-year-old girl with chronic cerebellitis (onset 2 days after diphtheria-pertussis-tetanus vaccination at 1 year and 7 months old) associated with anti-glutamate receptor delta 2 antibody, who improved dramatically with steroid therapy (methylprednisolone pulse therapy plus oral pred...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807307973
更新日期:2008-02-01 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::The authors conducted a systematic literature review of preventive pharmacological treatments for episodic childhood migraines searching several databases through May 20, 2012. Episodic migraine prevention was examined in 24 publications of randomized controlled trials that enrolled 1578 children in 16 nonrandomized s...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073813488659
更新日期:2013-10-01 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::A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380401900403
更新日期:2004-04-01 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
abstract::Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073896011001S06
更新日期:1996-11-01 00:00:00
abstract:BACKGROUND:Metagenomic next-generation sequencing offers an unbiased approach to identifying viral pathogens in cerebrospinal fluid of patients with meningoencephalitis of unknown etiology. METHODS:In an 11-month case series, we investigated the use of cerebrospinal fluid metagenomic next-generation sequencing to diag...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820972232
更新日期:2020-11-18 00:00:00
abstract::Sydenham's chorea, the neurological manifestation of rheumatic fever, is the most common acquired chorea of childhood. In this retrospective study, the authors aim to present the clinical and laboratory findings of 65 Sydenham's chorea patients, followed up in a clinic over less than 7 years. The mean age at the onset...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/0883073807302614
更新日期:2007-05-01 00:00:00