Hereditary factors in the etiology of neural tube defects. Results of a survey.

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 Neurosurg

journal_title

Pediatric neurosurgery

authors

Partington MD,McLone DG

doi

10.1159/000120977

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

311-6

issue

6

eissn

1016-2291

issn

1423-0305

journal_volume

23

pub_type

杂志文章
  • Endoscopic fenestration of middle fossa arachnoid cysts: a technical description and case series.

    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

    authors: Elhammady MS,Bhatia S,Ragheb J

    更新日期:2007-01-01 00:00:00

  • Osmotic myelinolysis with malignant cerebellar edema occurring after DDAVP-induced hyponatremia in a child.

    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

    authors: Ranger A,Szymczak A,Levin S,Salvadori M,Fraser DD

    更新日期:2010-01-01 00:00:00

  • Primary spinal primitive neuroectodermal tumor: case series and review of the literature.

    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

    authors: Kumar R,Reddy SJ,Wani AA,Pal L

    更新日期:2007-01-01 00:00:00

  • Internal open brain injury or cranial burst fracture: report of 8 cases.

    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

    authors: Yang CH,Li Q,Li GP,You C

    更新日期:2009-01-01 00:00:00

  • Blister-like supraclinoid internal carotid artery pseudoaneurysm in a 15-year-old male: case report and review of the literature.

    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

    authors: Haji FA,Boulton MR,de Ribaupierre S

    更新日期:2011-01-01 00:00:00

  • Giant Cavernous Malformations in Childhood: A Case Report and Review of the Literature.

    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

    authors: Ozsoy KM,Oktay K,Gezercan Y,Cetinalp NE,Olguner SK,Erman T

    更新日期:2017-01-01 00:00:00

  • A case of cerebellar capillary hemangioma with multiple cysts.

    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

    authors: Uyama A,Kawamura A,Akiyama H,Nakamizo S,Yamamoto K,Nagashima T,Uetani T,Takeda H,Yoshida M

    更新日期:2008-01-01 00:00:00

  • Prenatal sonographic diagnosis of lateral ventricle choroid plexus papilloma in an in vitro fertilization-induced pregnancy.

    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

    authors: Cohen ZR,Achiron R,Feldman Z

    更新日期:2002-11-01 00:00:00

  • Complete ocular paresis in a child with posterior fossa syndrome.

    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

    authors: Afshar M,Link M,Edwards MS,Fisher PG,Fredrick D,Monje M

    更新日期:2012-01-01 00:00:00

  • Results of radiosurgery in the management of recurrent and residual medulloblastoma.

    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

    authors: Patrice SJ,Tarbell NJ,Goumnerova LC,Shrieve DC,Black PM,Loeffler JS

    更新日期:1995-01-01 00:00:00

  • Big Data Research in Pediatric Neurosurgery: Content, Statistical Output, and Bibliometric Analysis.

    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

    authors: Oravec CS,Motiwala M,Reed K,Jones TL,Klimo P Jr

    更新日期:2019-01-01 00:00:00

  • Chiari I malformations and hydromyelia--complications.

    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

    authors: Menezes AH

    更新日期:1991-01-01 00:00:00

  • Fractures of the peritoneal catheter of cerebrospinal fluid shunts.

    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

    authors: Cuka GM,Hellbusch LC

    更新日期:1995-01-01 00:00:00

  • Treatment of craniosynostosis by distraction osteogenesis.

    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

    authors: Akai T,Iizuka H,Kawakami S

    更新日期:2006-01-01 00:00:00

  • Intracranial hypertension after cranial vault decompression for craniosynostosis.

    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

    authors: Campbell JW,Albright AL,Losken HW,Biglan AW

    更新日期:1995-01-01 00:00:00

  • Extradural hematomas in children.

    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

    authors: dos Santos AL,Plese JP,Ciquini Júnior O,Shu EB,Manreza LA,Marino Júnior R

    更新日期:1994-01-01 00:00:00

  • Moyamoya disease in children with congenital dwarfing conditions.

    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

    authors: Moftakhar P,Smith ER,Choulakian A,Scott RM,Danielpour M

    更新日期:2010-01-01 00:00:00

  • Fibrous dysplasia of the skull in children.

    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

    authors: Di Rocco C,Marchese E,Velardi F

    更新日期:1992-01-01 00:00:00

  • Pediatric skull base surgery. 1. Embryology and developmental anatomy.

    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

    authors: Gruber DP,Brockmeyer D

    更新日期:2003-01-01 00:00:00

  • Pediatric intracranial meningiomas--do they differ from their counterparts in adults?

    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

    authors: Arivazhagan A,Devi BI,Kolluri SV,Abraham RG,Sampath S,Chandramouli BA

    更新日期:2008-01-01 00:00:00

  • The first description of a device for repeated external ventricular drainage in the treatment of congenital hydrocephalus, invented in 1744 by Claude-Nicolas Le Cat.

    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

    authors: Kompanje EJ,Delwel EJ

    更新日期:2003-07-01 00:00:00

  • Endocrinological outcome of different treatment options in children with craniopharyngioma: a retrospective analysis of 66 cases.

    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

    authors: Gonc EN,Yordam N,Ozon A,Alikasifoglu A,Kandemir N

    更新日期:2004-05-01 00:00:00

  • An approach to radical excision of craniopharyngioma by the temporal route.

    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

    authors: Symon L

    更新日期:1994-01-01 00:00:00

  • Robot-assisted endoscopic intrauterine myelomeningocele repair: a feasibility study.

    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

    authors: Aaronson OS,Tulipan NB,Cywes R,Sundell HW,Davis GH,Bruner JP,Richards WO

    更新日期:2002-02-01 00:00:00

  • The delta valve: how does its clinical performance compare with two other pressure differential valves without antisiphon control?

    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

    authors: Davis SE,Levy ML,McComb JG,Sposto R

    更新日期:2000-08-01 00:00:00

  • An assessment of observer bias in the shunt design trial.

    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

    authors: Kestle J,Milner R,Drake D

    更新日期:1999-02-01 00:00:00

  • Current patterns of inflicted head injury in children.

    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

    authors: Dashti SR,Decker DD,Razzaq A,Cohen AR

    更新日期:1999-12-01 00:00:00

  • The Sunrise Technique: the correction of occipital plagiocephaly using bandeau occipital plate and radial osteotomies.

    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

    authors: Jimenez DF,Barone CM

    更新日期:1995-01-01 00:00:00

  • Use of bipedicular advancement flaps for intrauterine closure of myeloschisis.

    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

    authors: Mangels KJ,Tulipan N,Bruner JP,Nickolaus D

    更新日期:2000-01-01 00:00:00

  • Pathogenesis of lumbosacral lipoma: a test of the "premature dysjunction" theory.

    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

    authors: Li YC,Shin SH,Cho BK,Lee MS,Lee YJ,Hong SK,Wang KC

    更新日期:2001-03-01 00:00:00