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At least 127 records · Page 7Linked to original sources
PubMed2003

Symptomatic de novo arteriovenous malformation appearing 17 years after the resection of two other arteriovenous malformations in childhood: case report.

OBJECTIVE AND IMPORTANCE: This report describes the first case of symptomatic de novo arteriovenous malformation (AVM) appearing ectopically after total resection of other AVMs. We discuss the growth phenomenon and the nature of AVMs. CLINICAL PRESENTATION: A 27-year-old woman with sudden headache and right-sided numbness was admitted to our hospital. Computed tomographic scans revealed a hemorrhage of the corpus callosum and the bilateral lateral ventricles. A cerebral angiogram demonstrated an AVM that was fed by the bilateral pericallosal arteries and drained into the inferior sagittal sinus. Seventeen years earlier, at the age of 10 years, the patient had undergone resection of two other AVMs. At that time, the newly presented AVM was not detected. This AVM had grown markedly and caused hemorrhage after 17 years. INTERVENTION: The AVM, which was located in the bilateral cingulate gyrus and the corpus callosum, was totally removed through a right frontal craniotomy. The patient was discharged without neurological deficits. CONCLUSION: Our findings suggest that patients who undergo complete resection of AVMs may sustain other de novo AVMs some years later. The growth of an AVM seems to be related to the patient's age at onset and the duration of the posttreatment period. We emphasize the importance of long-term follow-up in patients with cerebral AVMs treated during childhood.

Adult↗
PubMed2006

Postembolization neurological deficits in cerebral arteriovenous malformations: stratification by arteriovenous malformation grade.

OBJECTIVE: To stratify the risk of embolization during the treatment of cerebral arteriovenous malformations (AVMs) by grade and to assess its impact on the overall treatment risk. METHODS: Patients with cerebral AVMs treated with embolization between 1995 and 2004 were retrospectively reviewed. Age, sex, AVM grade, location of lesion, number and location of embolized arteries, and number of embolization sessions were analyzed with respect to neurological or vascular complications after embolization. RESULTS: Embolization was performed in 153 patients: 508 vessels were embolized during 203 sessions (mean, 3.3 vessels per patient). The mean angiographic and clinical follow-up periods were 1.7 and 2.1 years, respectively (range, 3-60 mo). The periprocedural morbidity and mortality rate was 11.8%, but at the last follow-up examination, only 2% of survivors were significantly disabled (modified Rankin score > 2). One (0.7%) patient died, and 17 patients experienced unexpected neurological deficits immediately after embolization. Five of these patients demonstrated near or total recovery during follow-up. The number of branches embolized was the only variable significantly related to neurological deficit (P < 0.017). The long-term rates of neurological deficits after embolization were 0, 5, 7, 10, and 18%, respectively, for AVM Grades I through V. Among 114 patients who underwent preoperative embolization, follow-up deficit rates of Grades I through V were 0, 5, 6, 6, and 25%, respectively. Long-term permanent deficits from embolization occurred in 8.6% of patients. CONCLUSION: Endovascular treatment carries a procedural risk related to AVM grade and number of branches treated. This risk should be weighed carefully in the context of overall treatment morbidity and mortality.

Adolescent↗
PubMed1996

Spontaneous disappearance of arteriovenous malformation during staged treatment of multiple cerebral arteriovenous malformations--case report.

A 36-year-old male presented with aphasia and right hemiparesis due to the rupture of the larger of two arteriovenous malformations (AVMs) coexisting in the left hemisphere. The two AVMs had completely separate locations and different feeding arteries and draining systems. Two months after resection of the larger AVM and evacuation of the hematoma, carotid angiography showed the residual AVM had spontaneously disappeared. He was discharged without deficits. Change of cerebral hemodynamics after removal of the larger AVM presumably caused the spontaneous regression of the smaller one. Cerebral angiograms should be carefully examined because cerebral hemodynamics may be altered after removal of an AVM.

Adult↗
PubMed1998

Surgery for deeply seated arteriovenous malformation: with special reference to thalamic and striatal arteriovenous malformation.

Surgery for deeply seated arteriovenous malformation (AVM) is controversial because stereotactic irradiation is applicable to the lesion. We have, however, experienced 30 deeply seated AVMs treated by direct surgery and/or endovascular treatment. The present study shows profiles of those patients and results of surgery. They include AVM in the thalamus in 12 cases, striatum in four cases, paraventricular area in five cases, medial temporal lobe in three cases, intraventricular area in three cases, and other regions in three cases. They were treated by surgery alone in 23 cases, embolization followed by surgery in four cases, and embolization alone in three cases. AVM in the mediodorsal thalamus and fornix (5 cases) was best treated by transcallosal approach. Venous aneurysm was commonly found in the AVM of this region and was a good navigator to the AVM. Pulvinar AVM was accessible through posterior interhemispheric approach (2 cases). None of these cases had additional neurological deficits. Cadaver dissection was useful for acquisition of surgical approach. Striatal AVM was approached through hematoma cavity with minimal manipulation to the surrounding structures, yet two of four cases showed progression of their weakness. The present study indicates that thalamic AVM can be approached surgically with careful selection of the approach. On the other hand, striatal AVM is not a good candidate for direct surgery and better treated by stereotactic irradiation.

Arteriovenous Malformations↗
PubMed1980

[A case of arteriovenous malformation, grade IV, with two giant aneurysms in dominant side speech and motor-senosry area--evaluation of grades, operability with microsurgical technique and pre- and post-operative performance status in 37 cases of cerebral vascular malformation (author's transl)].

A case of grade IV arteriovenous malformation(AVM) with 2 giant aneurysms, deeply seated in the dominant hemisphere speech and motor-sensory area, improved remarkably by a total excision, after an incapacitating rebleeding which occurred 4 months after a subtotal excision of the AVM. The author has learned importance of audacity on the part of the neurosurgeon. Personal experience of 37 CVM's (including 30 AV angiomas, 4 cryptic AVM's, and 3 other types of CVM's was analyzed. Of 37, 34 were operated on. Three were considered inoperable and were treated with radiotherapy (including proton beam). Of the 34 operated (30 AVM), 31 (24 AVM) were totally removed. None of them died or exhibitied deterioration. Of the 3 partially operated cases, one improved, two remained unchanged, but one of the two died of rebleeding 3 months later. Two of the radiated cases were later severely incapacitated due to rebleeding. One that underwent proton therapy is still under observation without deterioration after 18 months.

Adult↗
PubMed1981

Cephalothoracopagus janiceps malformation. A contribution to the pathogenesis of cerebral malformation.

We report the first histologic findings of the CNS in cephalothoracopagus janiceps monosymmetros. The findings are compared with the other ten reported cases of this type of conjoined twin. The faces and CNSs showed asymmetry of development manifested chiefly in the prosencephalon, specifically the cortical gyri, corpus callosum, and subependymal mantle layer. It is difficult to explain discordance for congenital malformations in monovular or conjoined twins by either genetic or environmental mechanisms. It appears related to the vascular supply of the brain and a state of chronic ischemia rather than to a discrete insult and developmental arrest at a specific time during embryogenesis.

Abnormalities, Multiple↗
PubMed1994

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

Abnormalities, Multiple↗
PubMed1976

Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.

Abnormalities, Multiple↗
PubMed1988

Abnormal course of spinal posterior roots and tracts associated with brain malformations. Sensory pathway malformation.

An unusual mode of the spinal posterior nerve root entrance and of the course of ascending tracts in the hyperplastic gray matter of the posterior horn was observed in three newborn babies. This "sensory pathway malformation" was combined with severe but unspecific brain anomalies. The common associated brain anomaly was agenesis of the corpus callosum.

Abnormalities, Multiple↗
PubMed2001

Split cord malformation: three unusual cases of composite split cord malformation.

BACKGROUND: All split cord malformations (SCMs) arise from one basic fault, i.e. the formation of an accessory neurenteric canal between yolk sac and amnion through the midline embryonic disc that splits the notochord and neural plate. Multiple accessory neurenteric canals may lead to two or more noncontiguous SCMs, also known as composite SCM. CASE HISTORIES: We present here three cases of composite SCM. First, a 2 1/2-year-old boy had type II SCMs at two different levels with normal cord between them. In case 2, a 16-month-old girl revealed a type I SCM at levels L2-3 and a type II SCM at level L5. The third case had a combination of both these types of SCMs at levels L1-3. Only very few cases of composite SCM have been reported in the literature. CONCLUSIONS: These three cases also support the unified theory proposed by Pang et al.

Child, Preschool↗
PubMed2001

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed2005

Changes in angiogenic gene expression in a case of expanded capillary malformation: does an expanded capillary malformation grow?

We examined a 59-year-old woman with a capillary malformation (CM) in her thigh, which was serially excised. Interestingly, the remnant CM after the first excision was enlarged at the time of the second excision. To investigate whether this phenomenon was caused by mere passive expansion or regrowth, the CM specimens of the first operation (nonexpanded) and the second operation (expanded) were examined. Expressions of angiogenic genes Tie2 and Angiopoietin-1 were up-regulated within the expanded CM compared with the nonexpanded lesion, suggesting angiogenesis in the expanded CM. Expression pattern of the endothelial marker von Willebrand factor and the capillary densities were unchanged after the excision, suggesting that angiogenesis seen in the expanded CM resulted in reorganization of vascular networks. We consider that our data support a hypothesis that the expanded lesion in this case was caused by regrowth, not a passive expansion, of the CM.

Angiopoietin-1↗
PubMed2002

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all licence-phalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS (or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed2005

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations.

PHACES is an acronym for a rare neurocutaneous disorder including the following features: posterior fossa brain malformations; facial hemangiomas; arterial, cardiac, and eye anomalies; and sternal clefts and/or supraumbilical abdominal raphe. Facial hemangiomas are the hallmark of this syndrome. We report a patient with facial hemangiomas, sternal clefting and carotid abnormalities. She is another example of the combined existence of sternal clefting and carotid abnormalities in PHACES syndrome and even more unique since she does not have an aortic abnormality. This report emphasizes that many different combinations of features may be seen in PHACES syndrome.

Abnormalities, Multiple↗
PubMed1979

[Double malformation discovered during investigations for hypertension; single pelvic kidney and occipitovertebral joint malformation (author's transl)].

A young Portuges eman with a spastic gait was found to have a kidney lying below the bladder. This was the only kidney present and its blood supply was derived from a renal artery which was also the only one present. This renal abnormality was associated with a major malformation of the occipitovertebral joint (occipitalization of the atlas, total occipito-atlanto-odontoid dissociation above the line of the digastric). The possible relationship between these two affections is discussed.

Abnormalities, Multiple↗