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 described in children. Autonomic nervous system dysfunction usually has a self-limiting course with gradual near-complete or complete recovery. Most patients with pure pandysautonomia produce an antibody targeted against the ganglionic nicotinic acetylcholine receptor and titers have been shown to correlate with symptom severity. The clinical presentation described in this report is consistent with a progressive form of acute autoimmune autonomic neuropathy, but she was initially seronegative for known autoantibodies. She responded promptly to plasmapheresis. This case report emphasizes the importance of recognizing features of autonomic nervous system dysfunction and discusses the medical evaluation and treatment options for pediatric patients based on symptom severity.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Clark MB,Davis Tdoi
10.1177/0883073812474099subject
Has Abstractpub_date
2013-12-01 00:00:00pages
1716-9issue
12eissn
0883-0738issn
1708-8283pii
0883073812474099journal_volume
28pub_type
杂志文章,评审abstract::Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-y...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813494474
更新日期:2014-11-01 00:00:00
abstract::Tuberous sclerosis complex is a disease that affects many organs, including the central nervous system. Nervous system involvement in the form of hamartomas often results in seizures. In this study we wanted to determine the outcome of epilepsy in tuberous sclerosis complex and determine whether interictal electroence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307380001500203
更新日期:2000-02-01 00:00:00
abstract::To describe the spectrum and associated clinical features of peripheral and cerebral vasculopathy in pediatric patients with neurofibromatosis type 1, children seen at a single center from 2000 to 2010 with appropriate imaging studies were identified. Scans were assessed for vascular disease by 2 pediatric neuroradiol...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073812448531
更新日期:2013-05-01 00:00:00
abstract::The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073817701879
更新日期:2017-07-01 00:00:00
abstract::Acquired toxoplasmosis, although relatively common in children, is usually asymptomatic but can also be clinically manifested by a benign and self-limited infectious mononucleosis-like syndrome. Neurological complications are very rare in immunocompetent children. The authors report a 5-year-old boy who presented with...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810370480
更新日期:2010-12-01 00:00:00
abstract::We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810375116
更新日期:2011-02-01 00:00:00
abstract::Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章
doi:10.1177/088307389701200304
更新日期:1997-04-01 00:00:00
abstract::The association of hypoparathyroidism and ischemic stroke is rare in childhood. We report an interesting case of an 11-year-old girl diagnosed to have hypoparathyroidism and presented with an acute-onset right hemiparesis. Investigations revealed large artery ischemic stroke and uncontrolled hypoparathyroidism. Pediat...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814544366
更新日期:2015-07-01 00:00:00
abstract::The acquisition of reading is a complex neurobiologic process. Identifying the most effective instruction and remedial intervention methods for children at risk of developing reading problems and for those who are already struggling is equally complex. This article aims to provide the clinician with a review of more c...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738040190100401
更新日期:2004-10-01 00:00:00
abstract::Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article re...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073810378535
更新日期:2011-02-01 00:00:00
abstract::Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073814535490
更新日期:2015-05-01 00:00:00
abstract::Thromboembolic events during the perinatal period are responsible for irreversible brain damage owing to cerebral hypoxia and neuronal necrosis. We investigated the presence of thrombophilia risk factors in children with congenital neurologic disorders. Nineteen children (9 males and 10 females), aged 1 to 14 years (m...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738050200060701
更新日期:2005-06-01 00:00:00
abstract::Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/08830738020170010401
更新日期:2002-01-01 00:00:00
abstract::Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389701200102
更新日期:1997-01-01 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::This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...
journal_title:Journal of child neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1177/0883073808318053
更新日期:2008-11-01 00:00:00
abstract::Narcolepsy with cataplexy is a severely disabling disorder very often arising in childhood. Data on neuropsychological impairment in children are scant. We administered standardized neuropsychological tests to 13 children with narcolepsy with cataplexy. Overall, our patients displayed multiple patterns of cognitive an...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073813508315
更新日期:2014-10-01 00:00:00
abstract::The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073807304014
更新日期:2007-06-01 00:00:00
abstract::Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abno...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738060210021201
更新日期:2006-02-01 00:00:00
abstract:AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073820916260
更新日期:2020-07-01 00:00:00
abstract::Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dyspl...
journal_title:Journal of child neurology
pub_type: 杂志文章,评审
doi:10.1177/0883073816680748
更新日期:2017-03-01 00:00:00
abstract::The geographic distribution of multiple sclerosis (MS) may relate to the age of initial exposure and degree of sensitization to common viruses or bacteria which have proteins with epitopes (antigenic determinants) which are homologous with potentially encephalitogenic peptides in central myelin proteins, such as basic...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307388700200418
更新日期:1987-10-01 00:00:00
abstract::Opsoclonus-myoclonus syndrome is characterized by abnormal lymphocyte trafficking into brain. The authors hypothesized that mycophenolate mofetil, a lymphocyte proliferation inhibitor, might be therapeutic. The cerebrospinal fluid and blood immunophenotypes of 15 children with predominantly chronic-relapsing opsoclonu...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808324217
更新日期:2009-03-01 00:00:00
abstract::A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073808314964
更新日期:2008-08-01 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::If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/088307389901400206
更新日期:1999-02-01 00:00:00
abstract::The aim of the present study was to assess the emotional and cognitive aspects of social cognition among patients with rolandic epilepsy. A computerized neuropsychological battery was used for cognitive evaluation. Affective and cognitive social cognition were evaluated using two computerized Theory of Mind tasks. Cog...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073811414420
更新日期:2012-02-01 00:00:00
abstract::Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/08830738040190010710
更新日期:2004-01-01 00:00:00
abstract::Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and ...
journal_title:Journal of child neurology
pub_type: 杂志文章
doi:10.1177/0883073816673263
更新日期:2017-02-01 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