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PubMed1985

[Asymmetric uterine malformations with menstrual retention. Apropos of a malformation associating atresia of the cervical isthmus and a pseudo-unicornous uterus].

There is now more or less general agreement how to classify and how to work out the development of symmetrical malformations of the female genital tract. On the other hand, asymmetrical malformations, as well as abnormalities of the development of the cervix and the isthmus are only rarely written about in the literature. It has not yet been possible to draw up a system to display the physiopathology and the embryology of these malformations. We here report a rare case of atresia of the cervix and isthmus as well as a pseudo unicornous uterus. This case should take its place as a piece in the embryological puzzle helping to fill in the details which might one day solve this puzzle.

Abnormalities, Multiple↗
PubMed1980

[Congenital malformations. 1,238 cases of malformed infants in a 25-year (1950 to 1974) continuous series of 49,665 deliveries. Epidemiological and statistical study].

In a study carried on 25 years and about 50 000 births, the authors analyse 1 238 malformed children, with two purposes: 1. to determine a maternal population with high risk of malformations, in order to have a better survey and to look for many anomalies before the birth: 2. to make a "portrait" of the malformed child in order to suspect the existence of congenital anomalies during the obligatory examination in neo-natal time.

ABO Blood-Group System↗
PubMed1996

Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum.

We report three babies with malformations of left-right asymmetry who were born to mothers with insulin-dependent diabetes mellitus. One infant had left isomerism and asplenia, one had polysplenia, and the third baby had situs inversus with a neural tube defect. Defects of left-right asymmetry have not previously been well recognized as part of the spectrum of anomalies associated with maternal diabetes. We believe that the association of maternal diabetes with these malformations in the infants is not coincidental, and that diabetes mellitus has an aetiological role in this spectrum of abnormalities. Two of the mothers had elevated HbA1C levels in pregnancy, and thus the malformations may be due to poor glycaemic control, although other teratogenic mechanisms associated with diabetes cannot be excluded. Finally, to our knowledge, the finding of left isomerism with asplenia (part of the spectrum of right isomerism) is rare. The occurrence of both forms of isomerism in different parts of the same body supports the model of random development of laterality following the interruption of normal developmental processes.

Abnormalities, Multiple↗
PubMed1998

[Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].

OBJECTIVE: The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation. PATIENTS AND METHODS: We have used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period from 1976 to 1996, which corresponded to more than 1,300,000 births. Among these, we identified 851 liver-born and 40 stillborn infants with limb reduction defects. RESULTS: We could identify the cause in 177 (19.87%) of the 891 cases with limb reduction defects. In the analysis by clinical presentation, in 52.19% of the cases the limb deficiencies were the only defect present in the children (isolated), 30.75% presented multiple congenital anomaly patterns, and 17.06% were syndromes. The most frequent etiology was the genetic one. CONCLUSIONS: First, most of infants with limb deficiencies have unknown cause and these defects are most frequently isolated malformations. On the other hand, the results of this analysis permitted the following considerations in relation to the guidance for the diagnosis of infants with limb reduction defects. If the child presents with multiple congenital anomalies (multiply malformed infant) a chromosomal analysis should be performed and it should be determined if the infant was prenatally exposed to a teratogenic agent. If these two aspects are normal, we should clinically analyze if the infant could have a known syndrome. In addition, since in our data 10.32% of isolated cases were due to autosomal dominant genes, a detailed clinical analysis of close relatives should be done to determine if some of them present mild limb deficiencies in order to provide an adequate information to the family.

Arm↗
PubMed2000

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation.

AIMS: Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed. METHODS: Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM. RESULTS: In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention. CONCLUSION: A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.

Aged↗
PubMed2006

Acquired Chiari malformation Type I associated with a supratentorial arteriovenous malformation. Case report and review of the literature.

Chiari malformation Type I (CM-I), a condition defined by caudal descent of the cerebellar tonsils through the foramen magnum, is generally considered a congenital lesion. Several authors, however, have described an acquired form that appears identical to the congenital lesion on neuroimages. The most commonly reported cause of an acquired CM-I is cerebrospinal fluid diversion through a lumboperitoneal shunt. In this paper, the authors report the case of a patient in whom an acquired CM-I developed in association with a supratentorial arteriovenous malformation (AVM) of the brain. Development of the acquired CM was documented on serial magnetic resonance images. Moreover, the CM was seen to originate and worsen in concert with the clinicoradiological progression of the AVM. The underlying mechanism responsible for the acquired CM in this case is thought to be a high-flow venopathy of the transverse and sigmoid sinuses causing occlusion on the right and redirection of venous outflow into posterior fossa veins, with consequent venous congestion and swelling of the posterior fossa structures.

Adult↗
PubMed1986

Management of associated primary cerebral neoplasms and vascular malformations: 2. Intracranial arterio-venous malformations.

3 cases of primary cerebral tumours associated to intracranial arterio-venous malformations are reported. The presenting symptoms were caused by the AVM in 2 patients, by the tumour in 1 patient. In 2 cases the lesions were coexistent, while in one case the tumour was diagnosed 30 months after resection of the AVM. The tumour was a glioma in 2 cases, a pituitary adenoma in 1 case. The AVM was located in the right hemisphere in 2 patients, and was always ipsilateral to the tumour. Surgical treatment was undertaken in all patients, and consisted of resection of the tumour and AVM in 2 cases, and only resection of the tumour in 1 case. As regards outcome, one patient survived with a mild deficit, and 2 patients died from the natural evolution of the malignant tumour. It is concluded that the management of associated AVMs and brain tumours should be decided in the individual patient according to various considerations, owing to the variability of each lesion and to the relatively benign prognosis of an arterio-venous malformation.

Adenoma↗
PubMed1992

Arteriovenous malformation of the vein of Galen: a rare cerebral arteriovenous malformation.

A 32-year-old male presented to the emergency department for evaluation of a 12-day history of altered mental status. Workup revealed the presence of an arteriovenous malformation (AVM) of the great vein of Galen, an exceedingly rare and often fatal type of cerebral vascular malformation. Concurrent aneurysmic dilatation of the vein, a frequent finding associated with this type of AVM, resulted in compression of the aqueduct of Sylvius and acute hydrocephalus. A brief review of cerebral AVMs is presented, with specific attention to the pathophysiology, clinical presentation, and emergent treatment of those that involve the vein of Galen.

Adult↗
PubMed1998

The pathogenesis of arteriovenous malformations: insights provided by a case of multiple arteriovenous malformations developing in relation to a developmental venous anomaly.

OBJECTIVE AND IMPORTANCE: Developmental venous anomalies (DVAs) are common anomalies of intracranial venous drainage that may occur in conjunction with other cerebral vascular malformations. The present case raises important questions regarding the association between anomalous venous drainage patterns and the development of arteriovenous malformations (AVMs). CLINICAL PRESENTATION: We present the case of a 24-year-old man with small AVMs fed by the superior cerebellar artery that drained directly into a large DVA of the cerebellum. INTERVENTION: The patient was managed conservatively and returned 10 years later with recurrent symptoms. A repeat angiogram demonstrated spontaneous thrombosis of the previously documented AVMs; however, new AVMs at a different site that was also fed by the superior cerebellar artery and drained into the same DVA had appeared. The AVMs were completely embolized, and the DVA was left intact. CONCLUSION: Recently, increasing attention has focused on the possible importance of venous outflow disturbance and venous hypertension in the pathogenesis and pathophysiology of AVMs. The potential mechanisms for this association and the implications of the present case are discussed, and the pertinent literature is reviewed.

Adult↗
PubMed1999

A comparison of the clinical profile of cavernous malformations with and without associated venous malformations.

OBJECTIVE: Little is known about the clinical behavior of cavernous malformations (CMs) associated with venous malformations (VMs) of the brain. The aim of this study is to compare the clinical profile of patients harboring CMs with and without associated VMs. METHODS: A retrospective analysis of 55 consecutive patients harboring CMs of the brain who presented to a single neurovascular team during a 4-year period was performed. Forty-two patients (76%) had CMs alone (CM group), and 13 patients (24%) had CMs associated with VMs (CM + VM group). Detailed clinical information regarding each patient was gathered. Statistical analysis was performed using Fisher's exact test for binary variables and Mann-Whitney U test for continuous variables. RESULTS: The lesion location was infratentorial for 19 of the 70 CMs (27%) in the CM group and for 14 of the 21 CMs (67%) in the CM + VM group (P = 0.001). Familial histories of CMs were documented for 7 of the 42 patients (17%) in the CM group and none of the 13 patients in the CM + VM group. There was a female-to-male gender bias of 1.6:1 in the CM group and 3.3:1 in the CM + VM group. Sixteen of the 42 patients (38%) in the CM group and 8 of the 13 patients (62%) in the CM + VM group presented with symptomatic hemorrhage. Seizure presentation was documented in 11 of the 42 patients (26%) in the CM group and in 1 of the 13 patients (8%) in the CM + VM group. Repeated symptomatic hemorrhage was diagnosed in 4 of the 42 patients (9.5%) in the CM group and in 3 of the 13 patients (23%) in the CM + VM group. There were no apparent differences in the mean age at presentation, lesion size, or multiplicity between the two groups. CONCLUSION: Patients with CMs associated with VMs are more likely to be female patients, have associated symptomatic hemorrhage, have lesions in the posterior fossa (statistically significant), suffer from repeated symptomatic hemorrhage, and are less likely to present with seizures or to have familial histories when compared with patients with CMs alone. The possible mechanisms for these apparent differences in clinical profile are discussed.

Adult↗
PubMed2005

Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations.

BACKGROUND AND PURPOSE: Pathogenesis of cerebral venous malformation (CVM) is unknown. Because of coexistence of CVM and cerebral cavernous malformations (CCM), some studies have suggested that these 2 entities share a common origin and pathogenetic mechanism. METHODS: We have identified and ascertained over 200 families with CCM. Among these, 1 unique family was found to have members affected by both disorders. We have performed mutational analysis in all 3 CCM genes, KRIT1, Malcavernin, and PDCD10, to identify the causative gene in the family. RESULTS: Mutational analysis revealed a frameshift mutation affecting exon 19 of the CCM1 gene (KRIT1) in members with CCM, whereas no such mutation was observed in the member with CVM. CONCLUSIONS: These findings support the hypothesis that CVM and CCM are 2 distinct entities with different pathogenetic mechanisms. This data further supports the hypothesis that CVM has a distinct biology and clinical behavior when compared to CCM. CVM is a benign developmental anomaly and should be managed separately from CCM.

Apoptosis Regulatory Proteins↗
PubMed1996

Cerebral venous malformation-arteriovenous malformation transition forms.

Three cases of cerebral venous malformation (CVM) are presented to demonstrate the triad that characterizes CVM: abnormal surface venous drainage, a "star-cluster" system of deep collecting veins, and a deep draining vein. Four other cases are introduced that illustrate this triad and show an additional feature, namely arterial fistulization; these cases represent arteriovenous malformations (AVMs). A final case demonstrates a CVM within an AVM. Both of these structures have a common draining vein and an identical venous core. On the basis of the cases described and of others less suitable for illustration, it is postulated that an AVM is a fistulized CVM and that both relate to a failure in the development of the cortical venous mantle. This proposition is based on the authors' observations and their assessment of the "best possible fit."

Cerebral Angiography↗
PubMed2001

Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature.

The authors present the first known reported case of hemifacial microsomia associated with a Chiari I malformation and syrinx. A 14-year-old girl presented with progressive torticollis of 3 years' duration and headaches exacerbated by exercise. Computerized tomography scanning and magnetic resonance imaging revealed extensive craniofacial and vertebral abnormalities, including aplasia of the floor of the left middle fossa and posterior fossa cranium, articulation of the left mandibular condyle with the left temporal lobe, and progressive development of a Chiari I malformation with associated syringomyelia. The patient first underwent posterior fossa decompression, duraplasty, and occipitocervical fusion. This procedure was later followed by reconstruction of the floor of the left middle fossa and temporomandibular joint. The patient's outcome was excellent. In this case report the authors review the complex embryological development of craniofacial and craniovertebral structures, and emphasize the use of a staged approach to treat pathophysiological consequences of this congenital anomaly.

Adolescent↗
PubMed1986

[Arteriovenous malformation. 3. Dynamic CT of arteriovenous malformation].

Various methods have been reported for the purpose of measurement of hemodynamics of the cerebral arteriovenous malformations. In this paper, using a TCT-60A-30 scanner, dynamic computed tomography was performed on 18 cases with arteriovenous malformations. The initial scan of the dynamic CT was started simultaneously with the start of an intravenous injection of uniodinated contrast medium (8 ml/sec.), serial 4.5 sec. scan repeated 8 times. The data for each scan were segmented into three, and a series of 24 rapid-sequence scan images (CT-angiography) was generated. The time-density curve by use of Thompson's methods was analyzed with multiple ROIs which were bilaterally set up for the nidus and its surrounding areas considering each arterial supply. And the flow parameters, such as the peak concentration (PC), the mean transit time (MTT) and the PC/MTT were calculated. We thought that under the condition of normal state of blood-brain-barrier and fixed standards of multiple factors such as the cardio-pulmonary function, systemic blood volume, viscosity of the blood and many others, PC manifested vascular beds of ROIs, MTT brain circulating time, PC/MTT blood flow respectively. In the ROIs of the nidus, high values of PC (115.7 +/- 51.9 CT number) and PC/MTT (14.8 +/- 6.28 CT number/sec.), and reduction of MTT (8.47 +/- 2.28 sec.) were revealed in comparison with surrounding areas. The ROIs of the nidus showed enlargement of vascular beds and blood flow and reduction of brain circulating time. On the other hand, in the ROIs surrounding the nidus, MTT of affected areas (10.33 +/- 2.78 sec.) was slow compared with it nonaffected areas (9.33 +/- 2.09 sec.), however PC and PC/MTT were equal in both areas.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

Acute respiratory arrest. A complication of malformation of the shunt in children with myelomeningocele and Arnold-Chiari malformation.

Three children had hydrocephalus associated with myelomeningocele and the Arnold-Chiari malformation. They all experienced neck pain and opisthotonos, followed by the sudden onset of respiratory arrest as a result of the malfunction of a CSF shunt. There were no changes in pupillary response, and each patient remained alert until shortly before the respiratory arrest. Prompt surgical revision of the CSF shunt was carried out, and all three patients recovered. The mechanism of acute respiratory arrest seems to be acute compression of the brainstem as a result of hydrocephalus. The supratentorial pressure is direct on the posterior fossa structures through the enlarged tentorial opening, which is one of the characteristics of the brain in the Arnold-Chiari malformation. Sudden respiratory arrest, a life-threatening complication, is a result of a malfunction of the CSF shunt in children with myelomeningocele and requires prompt surgical decompression.

Acute Disease↗