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 cause for evolution of this syndrome. Various central nervous system symptoms have been reported in correlation with the syndrome, including epilepsy and hemiparesis. These symptoms were related to ipsilateral (or, less frequently, contralateral) facial lesions, and in a few case reports were consistent with Rasmussen's encephalitis-like lesions. Many clinical features overlap between facial linear scleroderma and en coup de sabre syndrome, which is characterized by localized inflammation leading to atrophy of the skin and subcutaneous tissues mainly on one side of the face; such overlap can lead to confusion in diagnosis. Furthermore, central nervous system involvement has been reported in en coup de sabre syndrome, leading to further misdiagnosis. The distinction between these two disorders is much disputed. Detailed here is the case of a child who had been diagnosed with en coup de sabre syndrome presenting with severe status migrainosus. Subsequent pathologic clinical, and neuroimaging findings led to a diagnosis of Parry-Romberg syndrome. This diagnosis is set in the context of the similarities, contradictions, and growing confusion between the two syndromes.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Menascu S,Padeh S,Hoffman C,Ben-Zeev Bdoi
10.1016/j.pediatrneurol.2008.11.007subject
Has Abstractpub_date
2009-04-01 00:00:00pages
321-3issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(08)00598-5journal_volume
40pub_type
杂志文章abstract::A 12-year-old girl with clinically established tuberous sclerosis complex, and without signs of neurofibromatosis type 1, developed a right retro-ocular optic nerve tumor. After rapid growth for 1 year after its discovery, the optic nerve tumor demonstrated modest progression. The patient received the mammalian target...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.01.016
更新日期:2010-06-01 00:00:00
abstract::An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short ...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(97)00231-2
更新日期:1998-05-01 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::The involvement of the cerebellum in unfavorable outcomes of extreme prematurity is increasingly recognized. Evidence implicates both cerebellar injury and cerebellar growth failure, which, along with supratentorial lesions, aggravate motor and developmental outcomes. We describe clinical and neuroradiologic findings ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.09.003
更新日期:2013-01-01 00:00:00
abstract::The mechanisms of death and neurologic sequelae in African children with cerebral malaria are undetermined. Because pathologic features are confined to the cerebral vasculature, perturbations in cerebral hemodynamics may be responsible. We compared the transcranial Doppler findings in 50 children with cerebral malaria...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(96)00115-4
更新日期:1996-07-01 00:00:00
abstract::Although brainstem immaturity has been postulated as one of the pathogenesis underlying cyanosis during feeding (CDF), there has been no widely accepted physiologic parameter that reflects brainstem function. We recently proposed that the dissociation index (DI), one of the phasic sleep parameters, is a reliable and q...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(91)90085-y
更新日期:1991-05-01 00:00:00
abstract:BACKGROUND:Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.07.006
更新日期:2014-10-01 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 used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(96)00251-2
更新日期:1996-11-01 00:00:00
abstract::Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0887-8994(85)90006-2
更新日期:1985-01-01 00:00:00
abstract::We report on a previously healthy 11-year-old boy with unilateral periorbital mild headache and facial nerve palsy, followed during the next 5 months by recurrent unilateral headaches and subsequent extrinsic paresis of the third cranial nerve and paresis of the sixth cranial nerve, each of which improved with steroid...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.08.018
更新日期:2011-01-01 00:00:00
abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.001
更新日期:2010-08-01 00:00:00
abstract::The antiepileptic drug felbamate has demonstrated efficacy against a variety of seizure types in the pediatric population, particularly seizures associated with Lennox-Gastaut syndrome. Postmarketing experience, however, revealed serious idiosyncratic adverse effects not observed during clinical trials, including apla...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.02.013
更新日期:2010-06-01 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::A patient with X-linked adrenoleukodystrophy exhibited a phenotype of neurofibromatosis 1. He had large and multiple café-au-lait spots, and had elevated serum levels of very long chain fatty acids. The patient's mother and elder sister also had X-linked adrenoleukodystrophy. This case represents novel manifestations ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.03.015
更新日期:2009-09-01 00:00:00
abstract:AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.04.004
更新日期:2019-12-01 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::The authors investigated by immunohistochemistry the distribution of protective protein in human tissues. Immunoreactivity was observed in the cytoplasm, revealing a granular pattern and cell type specificity. The most intense staining was observed in the large neurons of brain, distal and collecting tubular cells of ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00151-9
更新日期:1999-03-01 00:00:00
abstract::A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90036-x
更新日期:1992-03-01 00:00:00
abstract::Ketoacidosis is one of the common complications of Type I insulin-dependent diabetes mellitus. Several neurologic (cerebral) deficiencies have been associated with diabetic ketoacidosis, including cerebral edema with increased intracranial pressure resulting in coma; partial and generalized seizures; and cerebrovascul...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90011-1
更新日期:1986-05-01 00:00:00
abstract::A 16-year-old boy had a gradual onset of post-exercise myalgia with progressive fatigue and dizziness. He had bradycardia (37 beats/minute) with low supine and normal standing norepinephrine levels (56 and 311 pg/mL, respectively). He had absent sympathetically mediated vasoconstrictor responses during Valsalva maneuv...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.05.003
更新日期:2010-10-01 00:00:00
abstract:BACKGROUND:Although cerebral palsy is reported to have a higher prevalence in low-resource settings, there are few studies describing risk factors for cerebral palsy in these settings. A better understanding of the unique risk factors affecting children with cerebral palsy in low-resource settings could optimize both r...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2017.07.014
更新日期:2017-12-01 00:00:00
abstract::A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(89)90083-0
更新日期:1989-07-01 00:00:00
abstract::Epilepsy is a serious chronic brain disorder of childhood. We performed a cross-sectional prevalence study, determined the prevalence of childhood epilepsy, and identified the significance of certain risk factors for epilepsy among 1625 primary-school students aged 6-14 years, living in the center of Kars province. A ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2012.04.007
更新日期:2012-07-01 00:00:00
abstract::Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials....
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)00124-k
更新日期:1995-01-01 00:00:00
abstract::We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.09.012
更新日期:2010-02-01 00:00:00
abstract::Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2010.11.008
更新日期:2011-03-01 00:00:00
abstract::Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity oc...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(86)90037-8
更新日期:1986-01-01 00:00:00
abstract::Occipital lobe epilepsy in children can present as an idiopathic form (i.e., childhood epilepsy with occipital paroxysms) or as a symptomatic form. Forty-three children (18 boys, 25 girls) were divided into the idiopathic group or symptomatic group, according to the classification for epileptic seizures of the Interna...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.02.004
更新日期:2007-06-01 00:00:00
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