Abstract:
BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child with Duchenne muscular dystrophy who developed fat embolism syndrome with neurological dysfunction following multiple long bone fractures. He experienced recurrent cerebral infarctions that probably resulted from embolization through a patent foramen ovale. The patent foramen ovale was closed by an occluder device in the cardiac catheterization laboratory, and he did not experience further infarctions. CONCLUSIONS:Fat embolism with ischemic cerebral infarction can occur in individuals with Duchenne muscular dystrophy following long bone fractures. In this setting it is important to identify and close atrial level shunts in order to prevent additional infarctions.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Bugnitz CJ,Cripe LH,Lo WD,Flanigan KMdoi
10.1016/j.pediatrneurol.2016.05.013subject
Has Abstractpub_date
2016-10-01 00:00:00pages
76-79eissn
0887-8994issn
1873-5150pii
S0887-8994(16)30352-6journal_volume
63pub_type
杂志文章abstract::The acute effects of low-dose clonazepam on seizure frequency in children with epilepsy was evaluated. In an open study, 19 children with epilepsy (15 generalized and four partial) were examined during hospitalization with recordings of seizures by trained personnel. Seizures were counted during two 24-hour periods: b...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/s0887-8994(02)00468-x
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is div...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.01.028
更新日期:2014-06-01 00:00:00
abstract::Syncope is a common problem in children and adolescents. It is typically caused by benign neurally mediated hypotension, but other, more concerning, etiologies of syncope must be considered. In most instances, the underlying cause of syncope in the pediatric patient can be determined by obtaining a thorough history an...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2015.10.018
更新日期:2016-02-01 00:00:00
abstract::Four children with self-inflicted strangulation injuries had cerebral blood flow determined by stable xenon computed tomography (XeCTCBF) within 24 hours of admission. All had suffered a severe hypoxic-ischemic cerebral injury; 3 initially had fixed pupils, all were apneic with varying bradyarrhythmias, and the initia...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90068-v
更新日期:1991-09-01 00:00:00
abstract::Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)00155-u
更新日期:1995-02-01 00:00:00
abstract::Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.02.004
更新日期:2004-08-01 00:00:00
abstract::Twelve patients with hereditary motor and sensory neuropathy with the absence of large myelinated fibers have been reported. All of these patients had central nervous system involvement. In this report, we describe the first patient with pure motor and sensory neuropathy with the absence of large myelinated fibers wit...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00192-2
更新日期:2000-10-01 00:00:00
abstract::Recent sonographic studies have demonstrated enlarged choroid plexuses to be an abnormality associated with myelomeningocele. We report a patient with hydrocephalus and myelomeningocele who had huge bilateral enlargement of the choroid plexuses which were large enough to occlude the foramen of Monro of the shunted and...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90072-6
更新日期:1989-05-01 00:00:00
abstract::Proteolipid protein (PLP) is the major myelin protein of the central nervous system and is widely believed to play an important structural role in maintaining the myelin compaction. We have studied the early developmental changes of PLP with immunohistochemical methods. Our data demonstrate for the first time a compar...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00099-4
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.01.016
更新日期:2019-09-01 00:00:00
abstract::An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.02.004
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS:In our retrospective study, 38 cases were dichotomized into ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.07.016
更新日期:2020-11-01 00:00:00
abstract::An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.07.019
更新日期:2009-12-01 00:00:00
abstract::Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neu...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.11.001
更新日期:2013-05-01 00:00:00
abstract::Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00265-4
更新日期:2001-03-01 00:00:00
abstract::This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.12.032
更新日期:2013-05-01 00:00:00
abstract::This study assessed the utility of rectal diazepam gel in the home management of prolonged or repetitive seizures in children. Thirty-eight children being prescribed rectal diazepam gel by their clinician were prospectively recruited. Seizures, rectal diazepam use, emergency department visits, and quality of life data...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2005.03.005
更新日期:2005-09-01 00:00:00
abstract::Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2012.12.001
更新日期:2013-04-01 00:00:00
abstract::We report a female who was diagnosed with Wegener's granulomatosis at 4 years of age with life-threatening intracranial bleeding. The patient's serum was positive for c-antineutrophilic cytoplasmic antibodies, and histologic analysis of the lung biopsy revealed evidence of granulomatous vasculitis. Initial treatment w...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00392-2
更新日期:2002-07-01 00:00:00
abstract::We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqued...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00048-9
更新日期:1997-09-01 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:BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title:Pediatric neurology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.pediatrneurol.2018.03.007
更新日期:2018-06-01 00:00:00
abstract::Central nervous system manifestations are a common extrapulmonary complication of Mycoplasma pneumoniae infection, of which encephalitis is a well-recognized abnormality in children. In this report the first description of M. pneumoniae infection simultaneously complicated by meningoencephalitis and hemophagocytosis i...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(01)00274-0
更新日期:2001-07-01 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::Opsoclonus is a rare childhood ocular motility disorder characterized by irregular, chaotic, involuntary bursts of high amplitude, back-and-forth oscillations of the eyes,without pause intervals. Although this disorder is associated with neuroblastoma and other neural crest tumors, as well as with other neurologic abn...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.03.018
更新日期:2004-10-01 00:00:00
abstract::Magnetic resonance imaging (MRI) changes reported after corpus callosotomy include hyperintensity in the corpus callosum, perifalcine hyperintensity caused by surgical retraction, and acute changes associated with surgical complications. The authors have observed MRI signal changes in the cerebral white matter of corp...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(99)00082-x
更新日期:1999-10-01 00:00:00
abstract::Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)00212-9
更新日期:1998-04-01 00:00:00
abstract::A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90075-5
更新日期:1986-11-01 00:00:00
abstract::The costs of epilepsy encompass all aspects of life, including medical, educational, and psychosocial. Adults with intractable epilepsy who undergo epilepsy surgery and have seizure-free outcomes still have significant barriers in the attainment of improved quality of life. For this reason, there is increasing interes...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(97)00170-7
更新日期:1997-09-01 00:00:00
abstract::Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2003.10.012
更新日期:2004-04-01 00:00:00