Abstract:
:Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and glaucoma are among the most common symptoms and signs. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent strokelike episodes. In this review, we describe the syndrome's characteristic features, clinical course, and optimal management.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Thomas-Sohl KA,Vaslow DF,Maria BLdoi
10.1016/j.pediatrneurol.2003.12.015subject
Has Abstractpub_date
2004-05-01 00:00:00pages
303-10issue
5eissn
0887-8994issn
1873-5150pii
S0887899404000499journal_volume
30pub_type
杂志文章,评审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:BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...
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:The identification of a biomarker for sudden unexpected death in epilepsy (SUDEP) has the potential to save lives. Generalized convulsive seizures and postictal generalized suppression on electroencephalography (EEG) most often precede sudden unexpected death in epilepsy (SUDEP) and are potential biomarkers....
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.06.018
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.10.012
更新日期:2015-02-01 00:00:00
abstract::We describe the association of brain death in an infant with a large cutaneous hemangioma of the forearm. The irreversible cerebral injury is presumed to be secondary to cerebral hypoperfusion as a result of a combination of systemic hypotension and a systemic vascular "steal" phenomenon caused by the cutaneous hemang...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(90)90083-d
更新日期:1990-01-01 00:00:00
abstract::Traumatic spinal epidural hematoma (TSEH) is rare in children. Only three cases of TSEH were documented in the pediatric literature. This clinical note presents an infant with TSEH but no risk factors. Without magnetic resonance imaging examination, children with TSEH and minor symptoms may be missed and under reporte...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(00)00151-x
更新日期:2000-07-01 00:00:00
abstract::Spasticity is one of the most common symptoms presented by neurologic patients. Apart from surgical management, drug therapy is an important treatment of children suffering from spasticity. In this review, recent advances in the pharmacologic armamentarium are reported in detail. In particular, there are oral medicati...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2005.05.001
更新日期:2006-01-01 00:00:00
abstract::Despite the many dire pronouncements of the moribund status of the academic triple threat, this species is far from extinct. Maintenance and, indeed, expansion of this pool of individuals requires their identification and support early in their careers, and nurturing and mentoring throughout their careers. Increasing ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00308-4
更新日期:2003-11-01 00:00:00
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::To clarify reflex profiles in the first year of life in connection with categories of neurologic abnormality, eight primitive reflexes (i.e., the palmar grasp reflex, the plantar grasp reflex, the Galant response, the asymmetric tonic neck reflex, the suprapubic extensor reflex, the crossed extensor reflex, the Rossol...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00143-4
更新日期:1995-09-01 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::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::Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2008.11.007
更新日期:2009-04-01 00:00:00
abstract::This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). The authors reviewed 10 Leigh syndrome patients, including ours, with T8993C. Compared with 18 reported patients with Leigh syndrome caused by a T-to-G mutation at nucleotide 8...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00187-2
更新日期:1998-03-01 00:00:00
abstract::Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90079-2
更新日期:1986-11-01 00:00:00
abstract::Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.05.002
更新日期:2007-09-01 00:00:00
abstract::Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.10.020
更新日期:2006-06-01 00:00:00
abstract::The Fontan operation is one of the most common cardiac operations for children with congenital heart disease beyond the first year of age. Although the surgical mortality of this procedure has improved over the past 2 decades, the neurologic outcome in this population is not well described. We performed a retrospectiv...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(95)00027-d
更新日期:1995-04-01 00:00:00
abstract:BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.08.015
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Acute cerebellitis is a rare inflammatory syndrome in children, with either infectious or autoimmune etiologies. PATIENT:We describe a 7-year-old girl with a presentation of cerebellitis following group A streptococcal infection. RESULTS:Magnetic resonance imaging showed diffuse symmetrical swelling and ed...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.06.003
更新日期:2013-12-01 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::"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy. Molecular analy...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2011.07.003
更新日期:2011-11-01 00:00:00
abstract:BACKGROUND:Central nervous system complications of bone marrow transplant are a common occurrence and the differential diagnosis is quite broad, including opportunistic infections, medications toxicities, graft versus host disease, and other autoimmune processes. PATIENT DESCRIPTION:We summarize previously reported ca...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2014.07.007
更新日期:2015-01-01 00:00:00
abstract::The third case of cyclic vomiting syndrome with a large mitochondrial deoxyribonucleic acid rearrangement is described. Multiple neuromuscular anomalies are present that meet the diagnostic criteria for Kearns-Sayre syndrome, as well as severe symmetrical growth retardation. A 3-kilobase mitochondrial deoxyribonucleic...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2006.09.008
更新日期:2007-02-01 00:00:00
abstract::Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appeara...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2018.10.006
更新日期:2019-02-01 00:00:00
abstract::A male adolescent developed a sinovenous thrombosis 4 weeks following a Henoch-Schonlein purpura episode. A hypercoagulation evaluation revealed a positive lupus anticoagulant. This suggests an association between Henoch-Schonlein purpura and antiphospholipid antibody syndrome and is the first report of sinovenous thr...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.01.005
更新日期:2007-05-01 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:BACKGROUND:A cause cannot be determined in 30% to 50% of patients with intellectual disability. Determining the etiology of intellectual disability is important and useful for pediatric neurologists, geneticists, pediatricians, and patients' families because it allows assessment of recurrence risk, appropriate genetic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2013.10.017
更新日期:2014-03-01 00:00:00
abstract::The pathophysiologic mechanism for stereotypic, bilateral repetitive movements involving the arms and hands (complex motor stereotypies) is unknown. This study used volumetric magnetic resonance imaging to compare cerebral lobes and caudate nucleus in six males with complex stereotypies and average intelligence to age...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.09.005
更新日期:2005-02-01 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