Abstract：
BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. Microcephaly is not associated with FOXL2 mutations but has been reported in individuals with chromosome 3q deletions, which include the FOXL2 gene and other contiguous genes. The ATR gene has been reported as a candidate gene for microcephaly in individuals with contiguous deletion of chromosome 3q involving the FOXL2 gene. PATIENT:We describe a girl with blepharophimosis-ptosis-epicanthus inversus syndrome along with acquired microcephaly and intellectual disability. RESULTS:Our patient had a deletion of chromosome 3q22.2q23, which does not include the ATR gene but does include the PIK3CB gene as a candidate gene for microcephaly. CONCLUSION:We propose that the PIK3CB gene included in our patient's chromosome 3q deletion may be the gene responsible for microcephaly and other patients with blepharophimosis-ptosis-epicanthus inversus syndrome because of a chromosome 3q deletion.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Dean SJ,Holden KR,Dwivedi A,Dupont BR,Lyons MJdoi
10.1016/j.pediatrneurol.2014.01.055subject
Has Abstractpub_date
2014-06-01 00:00:00pages
636-9issue
6eissn
0887-8994issn
1873-5150pii
S0887-8994(14)00090-3journal_volume
50pub_type
杂志文章abstract：:An infant, 26 weeks gestation, had a stormy neonatal course; at 10 hours of age, initial cranial ultrasound apparently demonstrated a left subependymal hemorrhage placed somewhat medially with possible extension into the lateral ventricle. These ultrasound findings were present up to and including a study on the seven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90073-2
更新日期：1988-09-01 00:00:00
abstract：:We sought a simple and accurate method to monitor neonatal hydrocephalic infants using standard computed tomographic scans. Volume measurements were made by means of pixel counting using a personal computer and a drawing device, as a graphic tablet system, over computed tomographic scans of six infants with neonatal h...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00401-6
更新日期：2003-11-01 00:00:00
abstract：:In children, multiple sclerosis is rare and has some clinical and paraclinical differences compared with adults. The assessment of corticospinal motor tracts is expected to be relevant because of their frequent early involvement in this disease. Reported are the results of transcranial magnetic stimulation in two chil...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2000-02-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2007.10.009
更新日期：2008-03-01 00:00:00
abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.06.015
更新日期：2014-11-01 00:00:00
abstract：:Hematogenous brain metastases are uncommon in childhood. Three patients and a literature review that includes centers reporting up to 36 years of experience are presented in this study. The total of 2,040 patients includes our three examples of one neuroblastoma, one hepatoblastoma, and one adrenal carcinoma. Cerebral...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00363-0
更新日期：2002-03-01 00:00:00
abstract：:Vertigo, instability, dizziness, or equilibrium disorders are not usually considered as consequences of ophthalmologic problems. We present data indicating that ocular disorders can be responsible for these symptoms in children. In a population of 523 pediatric patients with vertigo or disequilibrium and referred for ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00140-5
更新日期：2000-07-01 00:00:00
abstract：:A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90075-n
更新日期：1993-07-01 00:00:00
abstract：:The diagnosis of postinfectious encephalomyelitis with symmetric lesions in the basal ganglia was confirmed by magnetic resonance imaging in 2 patients. A 7-year-old patient experienced severe dystonia and hyperreflexia; magnetic resonance imaging demonstrated bilateral lesions in the putamina and basis pontes. The ot...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(89)90024-6
更新日期：1989-09-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2015.09.010
更新日期：2016-01-01 00:00:00
abstract：:The patient is a 10-year-old male who experienced somnolence and incomplete quadriplegia after headache and vomiting, without exanthema, for 3 days. The clinical course and magnetic resonance imaging findings of the brain and spinal cord were compatible with acute disseminated encephalomyelitis. The serologic examinat...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00005-3
更新日期：1999-05-01 00:00:00
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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：:This study assessed potential etiologies of arterial ischemic stroke and hemorrhagic stroke among children of Mainland China. From January 1996-June 2006, 251 patients with consecutive childhood stroke (aged 1 month through 16 years) were admitted to Beijing Children's Hospital. Arterial ischemic stroke accounted for ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.11.002
更新日期：2009-04-01 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：: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：:In a prospective study, we analyzed the intraoperative electroencephalographic (EEG) changes during open heart surgery with deep hypothermia in 66 infants aged 6 months or younger, 70% of whom were neonates. Suppression of amplitude and continuity at the nadir of temperature reduction and following rewarming, and the ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90044-2
更新日期：1994-03-01 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：:A 4-year-old male developed encephalitis 2 weeks after the onset of varicella. During his evaluation neuroradiologic procedures documented cerebellar edema and demyelination. Cerebrospinal fluid titers confirmed varicella encephalitis. To our knowledge, this patient is the first reported with focal cerebellar edema, a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90054-9
更新日期：1988-03-01 00:00:00
abstract：OBJECTIVE:We evaluated the levels of cerebrospinal fluid concentrations of tumor necrosis factor-α, interleukin-6, and interleukin-8 in bacterial meningitis in children. METHODS:The study included children up to 14 years of age admitted to a pediatric ward with fever, headache, vomiting, and seizures. The diagnosis of...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.08.016
更新日期：2014-01-01 00:00:00
abstract：:The aim of this study was to evaluate the added utility of gadolinium administration in the magnetic resonance imaging evaluation of developmental delay in children less than 2 years of age. A computerized retrospective study identified all brain magnetic resonance imaging examinations using gadolinium performed at ou...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.02.014
更新日期：2006-08-01 00:00:00
abstract：:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(01)00253-3
更新日期：2001-08-01 00:00:00
abstract：:The distribution of leukomalacia and glial fibrillary acidic protein (GFAP)-positive glial cells in prenatal- and postnatal-onset leukomalacia were compared and diagnosed histologically in 128 autopsied infants and the different pathogeneses were examined. Prenatal-onset leukomalacia was diagnosed in 12 of 71 still-bi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(93)90009-2
更新日期：1993-01-01 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：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.09.009
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.07.011
更新日期：2017-01-01 00:00:00
abstract：:Although it is widely believed that herbal products are beneficial to the health, some herbal products can result in serious adverse effects, such as epileptic seizures, especially in children who are particularly susceptible. Sage oil contains well-known convulsant substances such as thujone, camphor, and cineole in ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.05.012
更新日期：2011-10-01 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：:Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.05.016
更新日期：2008-09-01 00:00:00
abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00104-6
更新日期：2000-01-01 00:00:00
abstract：:This report describes a female with eyelid fluttering with absence seizures, infrequent generalized tonic-clonic seizures, and mild mental retardation. Interictal and video-electroencephalography evaluations revealed normal activity while eyes were open but continuous generalized discharges with eyes closed (eyes clos...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.05.010
更新日期：2006-11-01 00:00:00
