眶内眼动脉瘤合并脑海绵状血管畸形一例并文献复习

目的探讨眶内眼动脉瘤合并连续出血的脑海绵状血管畸形的临床表现特点和诊治要领。方法报告1例眶内眼动脉瘤并发反复出血的脑海绵状血管畸形患者临床资料,并复习相关文献。结果该患者先行脑海绵状血管畸形切除,分期手术作眶内眼动脉瘤夹闭,治疗结果良好。结论眶内眼动脉瘤极其罕见,应个体化制定治疗方案;手术夹闭动脉瘤颈是眶内眼动脉瘤的首选治疗方法。     

Bilateral Ulnar Agenesis: Case Report and Review of the Literature

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.     

Posterior cranial fossa dimensions in the Chiari I malformation: Relation to pathogenesis and clinical presentation

Summary Skull dimensions were measured on lateral skull radiographs in 33 adult patients with MRI-verified Chiari I malformations and in 40 controls. The posterior cranial fossa was significantly smaller and shallower in patients than in controls. In the patients, there was a positive correlation between posterior fossa size and the degree of the cerebellar ectopia, which might indicate that a posterior cranial fossa which was originally too small had been expanded by the herniation of hindbrain structures at an early stage. Pyramidal signs and cerebellar symptoms and signs, which may be due to compression of neural structures, were associated with a large degree of ectopia and a relatively large posterior cranial fossa. Syringomyelia and headache, which may be due to the valve action of the herniated cerebellar tissue, were not associated with a particularly large posterior fossa or herniation. No special clinical presentation was associated with a very small posterior cranial fossa, which may indicate that a small posterior cranial fossa per se has little or no clinical significance, although it may be the primary developmental anomaly.     

Basilar arterio-venous pseudoparallelism due to persistence of embryonal venous pattern

Summary A vascular malformation, consisting of a venous vessel bridgeing the right inferior petrosal sinus and the anterior spinal veins, was found in the posterior fossa. The vessel presented a ring-like course around the right trigeminal root, and it was parallel and dorsal to the basilar artery. The malformation was associated with cutaneous and hepatic angiomas and peri-osteal lipomas. It had been clinically silent for 52 years, when it thrombosed causing death. The authors think that, within a general mesenchymopatic state, this is a result of the persistence of an embryonal cerebral venous pattern.     

新生儿先天性畸形与孕妇乙型肝炎病毒感染关系的研究

为探讨孕妇乙型肝炎病毒(HBV)感染和某些因素对先天性畸形的致病作用,本文进行了96对新生儿先天畸形的配对(1:1)病例对照研究,报道先天畸形的频率和构成,单因素和多因素的条件Logistic回归分析,表明孕妇HBsAg阳性等6个因素对先天畸形呈阴性结果,而与接触农药和孕周的因素有明显联系,值得进一步探讨。     

低位无肛术术中完整保留瘘口组织的必要性和可行性

目的探讨低位肛门直肠畸形术术中保留瘘口组织的必要性和可行性。方法对67例无肛前庭及会阴瘘患儿的临床资料进行回顾性分析。其中女童无肛前庭瘘59例,男童无肛会阴瘘8例。年龄3个月~16岁,平均10个月。患儿多以排便困难或肛门位置异常就诊。4例无肛前庭瘘患儿曾在婴儿期行瘘口后切术。患儿均采用完整保留瘘口的前矢状入路肛门成形术治疗。结果患儿术后3及6个月常规来院复诊,最长随访8年。65例(97.0%)患儿会阴部矢状切口一期愈合,会阴及肛门外观良好;另2例(男、女各1例)术中直肠破损患儿,自修补处穿孔导致会阴部矢状切口感染(占直肠破损修补术的40%),最终形成直肠会阴瘘,但肛门外观良好。67例均采用肛门功能临床评分标准评估患儿排便功能,64例(95.5%)患儿排便功能良好,总评分为5~6分;另3例(男1例,女2例)顽固便秘,需开塞露协助排便。结论低位无肛术中完整保留瘘口组织非常必要。     

脑动静脉畸形实验动物模型的建立

脑动静脉畸形(AVM)实验性动物模型建立是研究AVM必不可少的。建立脑AVM实验性动物模型最常用的动物是猪，目前主要有如下几种猪的脑AVM模型建立的方式：利用猪的自然奇网模式，颈动脉一颈内静脉瘘模式，奇网一海绵窦交通模式，利用导管形成AVM模型以及颈总动脉与颈外静脉端一端吻合模式。随着此项工作的不断完善，对脑AVM的病理生理、血流动力学的认识定会进一步提高，这将会更有力地有助于AVM的治疗。     

头面颈部毛细血管畸形的手术治疗

目的 探讨手术治疗头面部不同类型毛细血管畸形的适应证,手术方法及疗效.方法 对适合手术的23例头面颈部患者,根据病灶的面积和手术前的条件分别采用了植皮,扩张器局部皮瓣转移修复和游离皮瓣修复等方法,并进行术后评价和随访.结果 除一例特别原因造成皮片下积血,皮片部分成活不良二期再植,一例同位素治疗后扩张器病例远端发生血运障碍后改植皮以外,其余皮片,皮瓣均成活良好,但随访皮片有较明显的色差,而皮瓣色泽,质地良好.结论 皮瓣修复效果较好,其中扩张的局部皮瓣转移修复效果最佳.游离皮瓣较适合有皮下组织萎缩的大面积的病例,而其他大面积病灶可采用分期分区植皮.     

术中超声导航辅助切除脑动静脉畸形

目的探讨术中实时超声导航在脑动静脉畸形(AVM)外科治疗中的应用价值。方法26例脑AVM显微手术切除术中,使用Aloka SSD 4000型超声检查仪扫描,进行AVM定位、辨别供血动脉和引流静脉;确定血肿与AVM的关系以及血流动力学监测。病变切除后重复超声检查AVM残留与否,并与术后脑血管造影结果对比。结果26例畸形血管团均住实时超声下清晰显示并获得全切除。血肿区为高同声无血流信号;供血动脉与正常血管在血流动力学上有差别;术中超声影像所示的病变全切除为术后血管造影所证实。结论术中实时超声能够对脑AVM进行准确定位,指导皮质切口的设计,并可判定病灶是否全切除.对于术前的MRI、DSA检查起到很有价值的补充作用。     

Cerebral venous malformation complicated by spontaneous thrombosis

A case of spontaneous thrombosis and infarction leading to death as complications of a cerebral venous malformation in a 13-yearold boy is reported. This is the first published report of this type of complication occurring in a case of venous angioma. While the biologic behavior of cerebral venous malformations has suggested that they are benign in nature, and the results of surgical management have encouraged a conservative approach, the present case illustrates a potential complication and argues against the assumption that these malformations are completely benign in nature.