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PubMed1992

Split cord malformation: Part I: A unified theory of embryogenesis for double spinal cord malformations.

Much confusion still exists concerning the pathological definitions and clinical significance of double spinal cord malformations. Traditional terms used to describe the two main forms of these rare malformations, diastematomyelia and diplomyelia, add to the confusion by their inconsistent usage, ambiguities, and implications of their dissimilar embryogenesis. Based on the detailed radiographic and surgical findings of 39 cases of double cord malformations and the autopsy data on two other cases, this study endorses a new classification for double cord malformations and proposes a unified theory of embryogenesis for all their variant forms and features. The new classification recommends the term split cord malformation (SCM) for all double spinal cords. A Type I SCM consists of two hemicords, each contained within its own dural tube and separated by a dura-sheathed rigid osseocartilaginous median septum. A Type II SCM consists of two hemicords housed in a single dural tube separated by a nonrigid, fibrous median septum. These two essential features necessary for typing, the state of the dural tube and the nature of the median septum, do not ever overlap between the two main forms and can always be demonstrated by imaging studies so that accurate preoperative typing is always possible. All other associated structures in SCM such as paramedian nerve roots, myelomeningoceles manqué, and centromedian vascular structures frequently do overlap between types and are not reliable typing criteria. The unified theory of embryogenesis proposes that all variant types of SCMs have a common embryogenetic mechanism. Basic to this mechanism is the formation of adhesions between ecto- and endoderm, leading to an accessory neurenteric canal around which condenses an endomesenchymal tract that bisects the developing notochord and causes formation of two hemineural plates. The altered state of the emerging split neural tube and the subsequent ontogenetic fates of the constituent components of the endomesenchymal tract ultimately determine the configuration and orientation of the hemicords, the nature of the median septum, the coexistence of various vascular, lipomatous, neural, and fibrous oddities within the median cleft, the high association with open myelodysplastic and cutaneous lesions, and the seemingly unlikely relationship with fore and midgut anomalies. The multiple facets of this theory are presented in increasing complexity against the background of known embryological facts and theories; the validity of each facet is tested by comparing structures and phenomena predicted by the facet with actual radiographic, surgical, and histopathological findings of these 41 cases of SCM.

Adolescent↗

PubMed1975

Median facial malformations and their implications for brain malformations.

For purposes of identifying craniofacial syndromes which predict brain malformations the face can be regarded as developing from 2 sources. The median and paramedian structures derive from the embryonic segment of the face, termed the frontonasal prominence. The lateral structures of the face derive from the branchial arches. Certain patterns of median plane facial anomalies predict a severe brain malformation, while other patterns, although producing equally grotesque facial malformations, bear little association with a malformed brain. Orbital hypotelorism may occur in a variety of syndromes with microcephaly. When combined in typical patterns with other median plane facial defects, the patient almost certainly has holoprosencephaly, and has a poor prognosis for useful psychomotor development and survival. To the current knowledge of the author, every patient with orbital hypotelorism and total aplasia of the intermaxillary segment has a severely malformed brain. These patients, with only a rare exception, make no useful psychomotor progress and die in infancy. Orbital hypertelorism implies an increased risk of a neurologically abnormal patient, but neither the mental deficiency nor the prognosis for survival are as poor as in hypotelorism. When hypertelorism is combined with certain median plane facial anomalies the patient has the median cleft face syndrome and most likely has normal mentality, or only mild retardation, and has a normal prognosis for survival.

Abnormalities, Multiple↗

PubMed1990

Spinal cord cavernous malformation in a patient with familial intracranial cavernous malformations.

The case of a 30-year-old woman with a hemorrhage caused by a rare intramedullary cavernous malformation is presented. The patient underwent laminectomy with total removal of the lesion. A cranial magnetic resonance imaging scan demonstrated multiple cavernous malformations. The patient's asymptomatic sister also had multiple intracranial cavernous malformations, one of which was associated with a venous malformation.

Adult↗

PubMed2003

[Congenital malformations of the cerebral brain. 1: Malformations of the cerebral cortex].

Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development.

Brain↗

PubMed2003

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Capillary malformation (CM), or "port-wine stain," is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations "CM-AVM," for capillary malformation-arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells.

Amino Acid Sequence↗

PubMed1993

Intraventricular cavernous malformation associated with medullary venous malformation.

We reported a case of cavernous malformation (CM) associated with medullary venous malformation in the same area. The CM was located in the trigone of the lateral ventricle in the dominant hemisphere and drained into the longitudinal caudate vein of Schlesinger via deep medullary veins. By a transsylvian transventricular approach, the CM was totally removed with successful preservation of the medullary venous malformation. This approach is available for trigonal lesions, especially in cases with enlarged inferior horn. We stress that CM removal can be conducted with preservation of the adjacent medullary venous malformation.

Cerebral Veins↗

PubMed1997

Mixed arteriovenous malformation and capillary telangiectasia: a rare subset of mixed vascular malformations. Case report.

In this report, the authors discuss the case of a patient with a mixed cerebrovascular malformation in which an arteriovenous malformation (AVM) was associated with a capillary telangiectasia. Recent reports have contained reviews of various subsets of mixed malformations. To the authors' knowledge, however, this is the first report of a mixed vascular malformation with both arterial and capillary components. The patient underwent complete resection of the AVM after presenting with a clinical hemorrhage. She required a second operation to resect the capillary telangiectasia after new symptoms developed several months following the first procedure. The authors conclude that a mixed AVM-capillary telangiectasia is a rare but distinct entity.

Adult↗

PubMed1999

Successful radiosurgical treatment of arteriovenous malformation accompanied by venous malformation.

We present a patient with a rare cerebrovascular malformation consisting of a typical arteriovenous malformation (AVM) with a nidus and a venous malformation (VM) in a single lesion. The AVM component was successfully obliterated by radiosurgery, whereas the VM was completely preserved. Radiosurgery can be an effective treatment technique for treating this type of malformation because it allows targeted obliteration of the AVM yet carries a low risk of damaging the venous drainage toward and away from the VM.

Adult↗

PubMed2001

[A case of arteriovenous malformation associated with venous malformation].

A case of arteriovenous malformation associated with venous malformation is reported. A 35-year-old male patient suffered intracerebral hemorrhage in the left occipital with acute subdural hematoma. Angiography showed an arteriovenous malformation fed by the left middle cerebral artery. The hematoma and nidus was operatively removed. He also had a venous malformation in the left temporal lobe. This rare case is reported with some discussion.

Adult↗

PubMed1993

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.

The Dandy-Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy-Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant.

Abnormalities, Multiple↗

PubMed1997

Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure.

Abnormalities, Drug-Induced↗

PubMed2006

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.

Child, Preschool↗

PubMed1979

Dealing with suspicions of malformation frequency increase. Experience with the Swedish register of congenital malformations.

Strategies in dealing with data obtained from malformation monitoring based on experiences with the Swedish monitoring systems, operating since 1965 (Register of Congenital Malformations) and 1973 (Medical Birth Register) are discussed. The importance of checking data that have sounded an alarm is stressed. Experience has shown that false alarms due to artefacts, such as changed diagnostic routines, changed reporting or registration of malformations, or random fluctuations, comprise most suspected changes in incidence. If a true increase in malformation frequency or a local cluster is observed, a hint of possible aetiological factors can be obtained from studies of maternal age distribution, seasonal viriation, geographical distribution, etc. The last step of the analysis consists of a case-control or a cohort study, aimed at revealing a specific teratogen. The importance of locating limited research resources to well-defined problems using high quality data is stressed.

Abnormalities, Drug-Induced↗

PubMed1988

The value of England and Wales congenital malformation notification scheme data for epidemiology: male genital tract malformations.

Data from the England and Wales national congenital malformation notification scheme were examined for associations of male genital tract malformations. For some of the malformations comparison of notification rates with the literature suggested gross undernotification. There was also evidence suggesting bias: examination of the relationships of the malformations to birth weight, maternal parity, and maternal age at delivery showed some highly significant trends in risk, most of which were at variance with findings in the literature, and several potential mechanisms for bias could be adduced. Direct investigation is needed, for this and other similar data sets, of the extent and mechanisms of biased undernotification.

Birth Weight↗

PubMed2003

[The newborn with cardiological problems. The dilemma between malformative and non-malformative pathology].

Cardiovascular impairment is frequent during the neonatal period and can be expression of malformative or not-malformative pathology. In both conditions the clinical presentation is often dramatic with cyanosis and/or heart failure. The neonatologist has to make differential diagnosis as soon as possible, because cardiac malformations in the neonatal period are usually ductus arteriosus-dependent and can worsen suddenly after its closure. Since colour Doppler-echocardiography is not available in all the neonatal units in order to be helped in the diagnosis, it is very important that neonatologists learn to use the indications obtained with a careful physical examination and with some simple instrumental tests, as chest X-ray, electrocardiogram and blood gas analysis. In this article a review is made of the most frequent heart malformations associated with cyanosis and/or heart failure during the neonatal period (complete transposition of the great arteries, Fallot's tetralogy, tricuspid and pulmonary atresia, aortic coarctation, interventricular septal defect, persistence of ductus arteriosus) and the most common neonatal pathologic conditions simulating congenital heart diseases (persistence of fetal circulation, neonatal transitory myocardial ischemia, hypervolemia, hypoglycemia, hypocalcemia). Some clinical, instrumental and laboratory findings that could be useful for the diagnosis in absence of echocardiography are also reported.

Cyanosis↗

PubMedDate not supplied

[Incidence of 50 congenital malformations in 8 Chilean maternities participating in the Latin American Study of Congenital Malformations (ECLAMC). 1982-1988].

The incidence of 50 congenital malformations detected among 106,457 consecutive deliveries, in 8 chilean maternities participating in ECLAMC (Latin American Study for Congenital Malformations) is presented. The global incidence of congenital malformations was 2.97 for every 100 newborn infants. 2.92% in live borns and 8.54% in stillborns respectively. The mortality among the whole live borns of this series was of 0.93%. The incidence of congenital malformations in chilean maternities was compared with the rest of ECLAMC and significant differences were found in many of them, being higher in some problems where more complex diagnostic methods are required and were available, as is the case with congenital heart disease (23.85% vs. 9.72%) and renal agenesia (2.07% vs. 0.6%). In other types of more obvious abnormalities there were differences which could be eventually attributable to genetic or environmental factors.

Chile↗

PubMed2006

Pulmonary arteriovenous malformation mimicking congenital cystic adenomatoid malformation in a newborn.

Congenital pulmonary arteriovenous malformations (AVMs) are rare lesions, usually asymptomatic. We report on the case of a baby who was thought to have a congenital cystic adenomatoid malformation of the left upper lobe based on prenatal and postnatal imaging. Final pathology revealed a congenital pulmonary AVM. Neither the child nor her family have any evidence of hereditary hemorrhagic telangiectasia. To our knowledge, this is the first reported case of a pulmonary AVM mimicking a congenital cystic adenomatoid malformation.

Arteriovenous Malformations↗

PubMed1991

Do intracranial arteriovenous malformations cause subarachnoid haemorrhage? Review of computed tomography features of ruptured arteriovenous malformations in the acute stage.

Computed tomography features of ruptured arteriovenous malformations in the acute stage were reviewed. Intracerebral or intraventricular haemorrhage was the major finding, and primary subarachnoid haemorrhage was disclosed to be rare. This observation supports the concept that arteriovenous malformations should not be included in the main pathological conditions causing subarachnoid haemorrhage. This information is of value in identifying the source of intracranial haemorrhage in patients with the coexistence of an arteriovenous malformation and an aneurysm, and provides a significant guideline for treatment.

Acute Disease↗