Abstract:
:Ongoing research in the etiology of neural tube defects is increasingly being directed towards the molecular mechanisms at work in the formation of these complex lesions. We undertook to review the family history of patients in a large myelomeningocele/spina bifida clinic in an effort to identify genetic trends in these families, particularly as they relate to current research efforts and laboratory models. Surveys were received from 363 patients (35.5% of the clinic population) and analyzed. The myelomeningocele recurrence rate was 4.3%. Seven sets of twins were identified and all were discordant for their spinal lesions. A family history of spina was found to be evenly distributed between maternal and paternal relatives, rather than tending to follow through the maternal side. Epilepsy was more commonly found on the maternal side of the family, most likely reflecting the postulated causal relationship between maternal anticonvulsant use and the occurrence of spina bifida, although also possibly supporting the concept that a genetic predisposition for maternal epilepsy may also be associated with a higher frequency of birth defects among children of epileptics, independent of anticonvulsant use. Patients with spina bifida in the setting of Waardenburg syndrome and fragile X syndrome were also identified and will be discussed.
journal_name
Pediatr Neurosurgjournal_title
Pediatric neurosurgeryauthors
Partington MD,McLone DGdoi
10.1159/000120977subject
Has Abstractpub_date
1995-01-01 00:00:00pages
311-6issue
6eissn
1016-2291issn
1423-0305journal_volume
23pub_type
杂志文章abstract:BACKGROUND:Arachnoid cysts are intra-arachnoidal cerebrospinal fluid collections most frequently seen in the middle cranial fossa. The optimal method of treatment for symptomatic arachnoid cysts remains controversial and includes cyst shunting, open craniotomy and endoscopic fenestration. All these techniques, however,...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000098833
更新日期:2007-01-01 00:00:00
abstract::Central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) are dire neurological disorders, characterized by severe damage to the myelin sheath of neurons, which typically result from rapid correction or overcorrection of systemic hyponatremia. For many years, both conditions have been considered universal...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000320146
更新日期:2010-01-01 00:00:00
abstract::Primary spinal primitive neuroectodermal tumor (PSPNET) is extremely rare and only 25 cases have been reported in the world literature so far. Three patients of 8, 9 and 18 years of age, who presented with variable grades of neurological deficit were diagnosed as having a dorsal intramedullary lesion, a holocord lesio...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000097517
更新日期:2007-01-01 00:00:00
abstract:AIMS:We report a special type of skull fracture in children - internal open brain injury (IOBI). We summarize its clinical characteristics and propose a treatment strategy based on our experience. METHODS:Eight patients between 2 and 5 years old were identified to have IOBI. Preoperative computed tomography (CT) scann...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000260912
更新日期:2009-01-01 00:00:00
abstract::With an incidence of less than 1-3 per million, pediatric aneurysms are rare clinical entities. A traumatic etiology is implicated in a large proportion of these cases, leading to the formation of both 'false' and 'true' aneurysms. These occur most often in the distal circulation, but have also been described in the s...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000339355
更新日期:2011-01-01 00:00:00
abstract::Cavernous malformations (CMs) of the central nervous system are benign, angiographically occult vascular lesions and are diagnosed by magnetic resonance imaging techniques. Giant CMs do not differ from smaller-sized CMs in their clinical, surgical or histopathological presentation but may be radiologically different. ...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000447407
更新日期:2017-01-01 00:00:00
abstract::Intracranial capillary hemangiomas are very rare, though several spinal capillary hemangiomas have recently been reported. We report here a case of intracranial capillary hemangioma with multiple cysts and review the current literature of similar cases. A 4-month-old girl was referred to our hospital for treatment of ...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000138375
更新日期:2008-01-01 00:00:00
abstract::This is a report of a prenatal sonographic diagnosis of a lateral ventricle choroid plexus papilloma in an in vitro fertilization (IVF)-induced pregnancy of a 40-year-old woman. The baby was delivered at 35 weeks of gestation and surgery was performed 5 days later with a good outcome. Several cases of malignancies ass...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000066210
更新日期:2002-11-01 00:00:00
abstract::Posterior fossa syndrome (PFS), also known as cerebellar affective syndrome, is characterized by emotional lability and decreased speech production following injury or surgery to the cerebellum. Rarely, oculomotor dysfunction has been described in association with PFS. Here, we report a case of complete ocular paresis...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000339382
更新日期:2012-01-01 00:00:00
abstract::Between June 1989 and January 1994, 14 patients with recurrent (n = 11) or posttreatment residual (n = 3) medulloblastoma were enrolled in a program to evaluate the efficacy and toxicity of stereotactic radiosurgery (SR). Initial treatment consisted of subtotal surgical resection in 12 patients and complete surgical r...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120901
更新日期:1995-01-01 00:00:00
abstract:BACKGROUND/AIMS:We sought to describe pediatric "big data" publications since 2000, their statistical output, and clinical implications. METHODS:We searched 4 major North American neurosurgical journals for articles utilizing non-neurosurgery-specific databases for clinical pediatric neurosurgery research. Articles we...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000495790
更新日期:2019-01-01 00:00:00
abstract::The Chiari I malformation is associated with a hydromyelic cavity in 55-75% of patients. In the author's series (1977-1991), hydromelia occurred in 111 of 131 patients (85%). There were 35 children. Posterior fossa decompression with duraplasty and fourth ventricle to subarachnoid shunt was made in all patients with C...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000120586
更新日期:1991-01-01 00:00:00
abstract::A retrospective study of fractures of peritoneal catheters of ventriculoperitoneal shunts is described. Fracture of the peritoneal catheter accounts for 21.2% of shunt revisions. During the time period of January 1985 through July 1993, 401 PS Medical peritoneal catheters were installed and 23 fractures occurred. The ...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120884
更新日期:1995-01-01 00:00:00
abstract:PURPOSE:Craniosynostosis patients treated with one-stage cranioplasty often have bleeding from the dura mater, fluid collection in the extradural space, and poor wound healing due to skin overstretching. To avoid these complications, we began using distraction osteogenesis. To determine the advantages and disadvantages...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000094064
更新日期:2006-01-01 00:00:00
abstract::A 3-year-old boy with chronic papilledema, bilateral coronal synostosis and Pfeiffer syndrome underwent an orbitofrontal advancement. One month postoperatively, his papilledema had resolved, however, his vision progressively deteriorated over the ensuing 3 months to legal blindness. He had no symptoms or signs of incr...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120913
更新日期:1995-01-01 00:00:00
abstract::The authors studied 58 patients, under 12 years of age, admitted to the Emergency Room of the Sao Paulo University Hospital between September 1987 and November 1991 with the diagnosis of traumatic extradural hematoma. Emphasis was given to the etiology of injury, the time interval from head injury to emergency room ev...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120814
更新日期:1994-01-01 00:00:00
abstract::Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a ma...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000322017
更新日期:2010-01-01 00:00:00
abstract::Early diagnosis of skull fibrous dysplasia in children is relatively easy, based on a history of painless progressive bony bulging. The therapeutic approach is still controversial, due to the benignity of the lesion. However, the clinical course may be unpredictable, with sudden appearance of symptoms, some of which c...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120649
更新日期:1992-01-01 00:00:00
abstract::Surgical pathology of the pediatric cranial base is uncommon, but in affected children, traditional operative techniques and management philosophies predominate. While the creation of multidisciplinary skull base teams synergistically pools the talents of individual specialties, a better understanding of the developme...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章,评审
doi:10.1159/000067558
更新日期:2003-01-01 00:00:00
abstract:AIM:Meningiomas are very rare in children comprising only 0.44.1% of pediatric age tumors and only 1.5-1.8% of all intracranial neoplasms. We analyzed the clinical, pathological and management profile of these rare tumors and elucidated their differences from meningiomas in adults. METHODS:From 1990 to 2005, 33 patien...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000110661
更新日期:2008-01-01 00:00:00
abstract::An 18th century report of a device for repeated extracranial drainage of cerebrospinal fluid in the treatment of congenital hydrocephalus is reviewed. On 15th October 1744, the French surgeon Claude-Nicolas Le Cat (1700-1768) introduced a specially invented canula into the lateral ventricle of a newborn boy with hydro...
journal_title:Pediatric neurosurgery
pub_type: 传,历史文章,杂志文章
doi:10.1159/000070872
更新日期:2003-07-01 00:00:00
abstract::Craniopharyngioma is one of the leading causes of hypothalamic-pituitary dysfunction in childhood, caused either by the tumor itself or the consequences of treatment. Tumor management in terms of recurrence rate, quality of life and complications is still controversial. Sixty-six patients with craniopharyngioma at ped...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000079852
更新日期:2004-05-01 00:00:00
abstract::Attempts at radical excision of craniopharyngioma has been made increasingly possible by the advent of neuroradiological imaging and the use of microscopic technique. Between 1977 and 1993, 62 patients of The National Hospital for Neurology and Neurosurgery, London, have undergone surgical excision of craniopharyngiom...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120864
更新日期:1994-01-01 00:00:00
abstract:BACKGROUND:Animal experiments have suggested that the intrauterine environment causes secondary injury to the congenitally dysplastic spinal cord. This in turn suggests that early closure of the myelomeningocele sac might prevent secondary injury and therefore improve neurologic outcome. This study was designed to exam...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000048358
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:The Delta valve is a pressure differential valve with a siphon control device. The valve mechanism is normally closed, but is designed to open in response to positive ventricular pressure, thereby avoiding overdrainage of cerebrospinal fluid (CSF). As a result, the incidence of subdural fluid collections as w...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000028988
更新日期:2000-08-01 00:00:00
abstract:INTRODUCTION:An international multicenter randomized trial comparing standard pressure differential valves, Orbis Sigma valves and PS Medical Delta valves, for children with newly diagnosed hydrocephalus failed to show a difference in the time to first shunt failure (power 80%). In order to avoid observer bias, the pri...
journal_title:Pediatric neurosurgery
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1159/000028764
更新日期:1999-02-01 00:00:00
abstract::The purpose of this study was to examine the current patterns of head trauma associated with child abuse. We reviewed the records of all patients admitted to our medical center between 1995 and 1997 with a primary diagnosis of head trauma, and analyzed the clinical presentation, mechanism of injury, socioeconomic stat...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000028880
更新日期:1999-12-01 00:00:00
abstract::Posterior plagiocephaly secondary to lambdoid suture stenosis requires surgical release and repair to prevent progressive deformational changes associated with a suture stenosis. A surgical technique is described for release of the stenosed lambdoid suture and asterion region, followed by occipital reconstruction. Thi...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000120895
更新日期:1995-01-01 00:00:00
abstract::Several groups have begun to explore the feasibility and utility of intrauterine closure of myelomeningocele. A subset of these fetuses have defects which fall into the category of myeloschisis, and therefore have inadequate skin to enable primary closure. After considerable discussion, it was decided to utilize biped...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000028898
更新日期:2000-01-01 00:00:00
abstract::Premature separation of the neuroectoderm from the ipsilateral surface ectoderm allowing mesenchymal tissue to invade into the central canal, or "premature dysjunction" theory, was proposed for the pathogenesis of dorsal type lumbosacral lipoma. To test this theory, the unilateral neural fold was incised using Hamburg...
journal_title:Pediatric neurosurgery
pub_type: 杂志文章
doi:10.1159/000056007
更新日期:2001-03-01 00:00:00