59例儿童脑动静脉畸形诊治体会

目的报道59例儿童脑动静脉畸形诊治体会。方法回顾分析长征医院1990～2000年收治59例18岁以下脑AVM患儿诊治结果，其中单纯手术治疗10例；栓塞后再手术7例；栓塞后伽玛刀治疗18例；手术后伽马刀治疗3例；单纯栓塞治疗5例；直接伽玛刀治疗13例；未治3例。结果48例（48／59）患儿临床表现为出血，47例（47／56）治疗后没有产生任何新的神经功能缺损，6例（6／56）治疗后出现轻度神经功能缺损或神经功能缺损加重，2例（2／56）患儿遗留严重的神经后遗症，死亡1例。未治3例，死亡1例。结论儿童脑AVM具有出血率高及出血凶猛的特点，应争取积极治疗，合理正确使用显微手术、放疗、血管内栓塞等治疗手段．临床效果满意。     

Pulmonary arteriovenous malformations

Pulmonary arteriovenous malformations rarely present in childhood. Two cases are presented in this report. Both the cases presented clinically with cyanosis and clubbing without a cardiac murmur. The second case had cerebral abscess in addition. Both the cases underwent a contrast-enhanced echocardiography which suggested the presence of pulmonary arteriovenous malformations. The first case also underwent^99mTc radionuclide scan and pulmonary angiography. The cases are being reported for their characteristic clinical features and for emphasizing the role of non-invasive modalities like contrast-enhanced echocardiography and radionuclide scan in reaching the diagnosis.     

Cerebral arteriovenous malformations in a probable familial form of Rendu-Osler disease]

Cerebral arteriovenous malformations with neonatal manifestations are infrequent and virtually always fatal. Heart failure with an intracranial bruit is the most common presentation. Exceptionally, the aneurysm is a manifestation of Rendu-Osler-Weber syndrome which is inherited on an autosomal dominant basis. Development of cerebral arteriovenous malformations occurs very early as demonstrated by the discovery of two aneurysms with major repercussions on the cerebral parenchyma in a female with severe prematurity. Pregnant women with suspected Rendu-Osler-Weber syndrome should undergo ultrasound studies targeted at identifying untreatable cerebral lesions antenatally.     

Congenital pulmonary arteriovenous malformations

 We report the rare case of an 11-year-old boy who presented with intractable hypoxaemia and a pulmonary mass. Investigations revealed this to be a pulmonary arteriovenous malformation. It was entirely confined to the right middle lobe and was successfully treated via a right middle lobectomy. The relevant literature with respect to both diagnosis and treatment is reviewed. Accepted: 20 March 2000     

Polysplenia with pulmonary arteriovenous malformations

Summary A patient with polysplenia syndrome, dextrocardia, left atrial isomerism, normal great vessel relationships, and no intracardiac shunts developed progressive cyanosis and clubbing. Pulmonary arteriovenous malformations (PAVMs) were diagnosed by angiography and confirmed by lung biopsy. Superior mesenteric arteriogram revealed hypoplasia of the intrahepatic portal vein branches and a portosystemic shunt. The possible etiologies of PAVMs are discussed.     

Cerebral arteriovenous malformations in childhood: state of the art with special reference to treatment

In this state of the art paper, the clinical and diagnostic features of cerebral arteriovenous malformation (AVM) in childhood are outlined and special attention is paid to the treatment. Several options exists for the treatment of an AVM, consisting of surgery, endovascular embolization, stereotactic radiosurgery, or a combination of these treatments. Received: 19 March 1997 / Accepted: 24 March 1997     

Congenital renal arteriovenous malformations in infancy

Two infants with systemic hypertension were found to have congenital renal arteriovenous fistulas. The ultrasound, computed tomography, and angiographic features are presented. The hypertension subsided following nephrectomy in both patients.     

Medullary arteriovenous malformations in children]

Spinal arteriovenous malformations are rare lesions in children but may produce serious functional disorders and residual handicaps. CASE REPORT: We report the case of a 10-year-old patient who had weakness in his left leg with intermittent urinary incontinence. Neurological examination showed a spastic paraparesis of both legs, more obvious in the left leg. MRI led to the diagnosis of a spinal vascular malformation, which was confirmed by angiography. The patient underwent a session of embolization, which resulted in a significant clinical improvement. CONCLUSION: The importance of MRI in such a case is emphasized as is therapeutic management with embolization.     

Cerebral gigantism (Sotos-syndrome) (author's transl)]

Case report of a nine month old girl with Cerebral Gigantism. It is a gigantism syndrome characterized by advanced bone age, a typical craniofacial dysmorphia and a not progredient mental retardation. Etiology and pathogenesis of this syndrome are unknown.     

儿童颅内动静脉畸形的显微外科治疗

目的 总结显微手术治疗31例儿童颅内动静脉畸形的经验体会,探讨其治疗方案和手术注意事项.方法 我院自2003年6月～2007年6月对31例儿童颅内动静脉畸形的临床资料、治疗过程以及诊治结果进行回顾性分析.31例中有25例以脑内出血起病,5例以癫痫为主要表现,1例表现为轻度头痛.按照Spetzler-Martin分级,Ⅰ级2例,Ⅱ级12例,Ⅲ级10例,Ⅳ级5例,Ⅴ级2例.单纯手术治疗24例,栓塞后手术7例.结果 31例动静脉畸形团均全切除.6例治疗后出现一过性神经功能缺损或轻度新增神经功能缺损,1例患儿遗留偏瘫.无死亡病例.结论 显微手术切除术可以相对安全有效地治疗儿童颅内动静脉畸形,对于大型或位于功能区的颅内动静脉畸形(AVM),术前栓塞有助于提高疗效.     

Cerebral malformations without antenatal diagnosis

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations.     

Cerebral arteriovenous malformation in neonates

Summary Ischemic myocardial damage was identified as a complicating feature in the clinical course of 12 newborn infants who died in congestive failure with cerebral arteriovenous malformation. Electrocardiograms of 11 patients showed signs of chamber hypertrophy and T wave and ST segment features of varying degree compatible with ischemia or infarction. Histological evidence of myocardial necrosis or infarction was detected in seven of the ten infants from whom autopsy material was still available.Presented in part at the 33rd Annual Meeting of the Canadian Cardiovascular Society, Winnipeg, October 1980Supported in part by the Ontario Heart Foundation     

Aortic diastolic pressure decay in congenital arteriovenous malformations

Summary We describe three infants with large congenital arteriovenous malformations, two intracranial and one intrathoracic, who have high output congestive heart failure but normal pulse pressures. The theoretical basis of these pulse pressure findings in contrast to those in infants with shunting secondary to the patent ductus arteriosus is presented.     

Regression of pulmonary arteriovenous malformations following heart transplantation

Pulmonary arteriovenous malformations (PAVMs) can occur following caval to pulmonary artery connection, Glenn and/or Fontan procedure, leading to severe cyanosis and exercise intolerance. It is unknown whether these abnormalities regress or persist following heart transplantation (HTx). Twenty patients with failed Fontan or Glenn procedures were screened for PAVMs prior to HTx by contrast echocardiography, selective pulmonary angiography, and pulmonary venous desaturation. Age at transplant, diagnosis, previous operations, time from Glenn to transplant, systemic oxygenation, hemoglobin level, and ventricular function were determined. The clinical course after HTx was characterized in three patients with significant PAVMs. Indications for HTx were exercise intolerance and severe cyanosis in one patient, and cyanosis and ventricular dysfunction in two. Pre-HTx, mean systemic saturation was 67%; mean pulmonary venous wedge saturation was 81%. Post-HTx, oxygen saturations were normal (> 96%) at 14, 40, and 180 days. Contrast echocardiography, performed 1 month to 3.3 yrs after HTx, showed no intrapulmonary shunting in two patients and minimal shunting in one. One patient suffered an embolic stroke from right-to-left shunting post-HTx. All patients are alive and well 35, 71, and 73 months post-HTx. In patients with single ventricle physiology, PAVMs are not an absolute contraindication to HTx. Heart-lung transplant may not be required for these patients.     

Cerebral palsy and congenital malformations.

AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children with cerebral malformations. The most frequent groups of non-cerebral malformations were cardiac, facial clefts and limb and skeleton malformations. Children born at term had a significantly higher prevalence of cerebral malformations compared to children born before 32 weeks (12.1% versus 2.1%, p<0.001). CONCLUSION: Cerebral malformations were much more frequent among children with CP than among all livebirths in the population. Malformations in organ systems close to the brain (eye, facial clefts) were more frequent in the CP population while malformations in organ systems further from the brain (renal, genital) were more frequent in the general population.     

Validity of simple X-ray-techniques in misdiagnosed anorectal malformations (author's transl)]

One particular form of an anorectal malformation--the anterior perineal anus--is frequently overlooked in the neonate period because defecation is easy at this age. However, with the change of diet, this malformation as a rule leads to chronic constipation. The lateral view at the beginning of an irrigoscopy usually shows a characteristic picture of a horizontal caudal limitation of the rectum, a dorsal pouch, a beakshaped fistula and an elevation of the anorectal transition. These findings contribute essentially to the clinical diagnosis and permit early operation.