Dural arteriovenous malformations at the base of the anterior cranial fossa: report of nine cases

Nine men with dural arteriovenous malformations (DAVM) at the base of the anterior cranial fossa are described. Four patients had intracerebral haemorrhage and four had seizures, associated with haemorrhage in two. In three cases the fistula was an incidental finding. In five cases the diagnosis could be made before angiography, on the basis of CT findings. Angiographically, venous drainage was always seen into ascending cortical veins. Five cases demonstrated drainage via the olfactory vein into the basal vein of Rosenthal; in four this way was the principal route of drainage. Five patients underwent surgery, the therapy of choice. One fistula closed spontaneously after angiography. Two patients refused treatment and one was not treated because of his poor general condition. Because arterial supply was usually bilateral, from small branches of the ophthalmic artery, embolisation seemed to be more dangerous. Compared to dural fistulae in other locations the DAVM of the anterior cranial fossa have a higher risk of complications and should be treated even if asymptomatic at the time of diagnosis.     

Cor triatriatum associated with partial anomalous pulmonary venous connection to the coronary sinus: Echocardiographic and angiocardiographic features

Summary An infant girl is described who had cor triatriatum and partial anomalous pulmonary venous connection of the left pulmonary veins to the coronary sinus, the first report of this combination of lesions. The infant also had a Dandy-Walker malformation and multiple facial and intrathoracic hemangiomas. The cardiac diagnosis was made by two-dimensional echocardiography. Cardiac catheterization and angiography confirmed the findings and also demonstrated a persistent left superior vena cava draining to the coronary sinus. The infant underwent successful surgical repair. Partial anomalous pulmonary venous connection and left superior vena cava not infrequently are associated with cor triatriatum. Although two-dimensional echocardiography is sensitive for the detection of cor triatriatum, preoperative cardiac catheterization is necessary to identify unequivocally systemic and pulmonary venous connections.     

Cervical intramedullary cavernous angioma with MRI-proven haemorrhages

Summary Two contrasting cases of cervical intramedullary cavernous angioma in young female patients are reported. One patient had a 3-year course of step-wise progressive tetraparesis; at each of the five events intramedullary bleeding from a cryptic vascular malformation at C6–7 level was diagnosed by MRI. The other patient presented with one episode which led to MRI diagnosis of a vascular malformation at the C2 level. Both patients eventually underwent complete surgical excision of the angioma with subsequent steady improvement of the neurological deficit.     

Mutational analysis of HOXD13 and HOXA13 genes in the triphalangeal thumb-brachyectrodactyly syndrome.

The triphalangeal thumb-brachyectrodactyly syndrome is a very rare autosomal dominant disorder of unknown etiology characterized by an unusual pattern of limb malformations: triphalangeal thumbs and brachyectrodactyly in the hands, and ectrodactyly in the feet. In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene. After sequencing the entire coding region of HOXD13 and the highly conserved homeodomain encoding region of HOXA13, we do not detect any deleterious mutation in any of the patients excluding that alterations at these sequences are responsible for the disease. Mutations in regulatory regions of these genes or in other genes involved in limb development might be responsible for the disease.     

Revisit on congenital bronchopulmonary vascular malformations: a haphazard branching theory of malinosculations and its clinical classification and implication.

We propose a haphazard branching theory to support the concept of bronchopulmonary malinosculations, and we apply this theory to classify congenital bronchopulmonary vascular malformation (BPVM) based on the anatomical results we have found. Between January 1990 and December 1997, a total of 22 pediatric patients (10 male and 12 female), aged 2 days to 14 years (median, 19.6 months), with congenital BPVM were enrolled in this retrospective study. Study modalities include the clinical features and plain chest films (n = 22) plus at least two of the following: echocardiography (n = 13), barium esophagraphy (n = 2), bronchoscopy (n = 4), contrast bronchography (n = 8), high-resolution direct coronal CT (n = 1) and electron beam or ultrafast CT (n = 1) of the chest, MRI (n = 10), MRA (n = 1), contrast cineangiocardiography (n = 9), surgery (n = 11), or autopsy (n = 2). The salient clinical features were recurrent lung infections in 14 patients, acute respiratory distress in 13, associated cardiovascular malformations in 8, dextroversion in 7, congestive heart failure in 7, dextrocardia in 4, and complex congenital heart diseases in 4. There were abnormal openings (malinosculations) of the pulmonary airway in 20 patients: to an artery in 12, to a vein in 8, and to the lung parenchyma in 9. These 22 patients with congenital BPVM can be classified into bronchial malinosculation (10 cases), arterial malinosculation (2 cases), and bronchoarterial malinosculation (10 cases). Congenital BPVM can be classified in terms of bronchopulmonary malinosculation based upon a haphazard branching theory, in which abnormal communications between two independent systems (primitive foregut system and aortic-pulmonary arch system) occurred coincidentally rather than causally.     

Haemoglobin A1 and congenital malformation

Two hundred and thirty pregnancies were studied in 196 diabetic women. Seven women with babies found to have major malformations had a higher median first trimester haemoglobin A1 (12.9%) than the median HbA1 (10.8%) in those with normal babies (p = 0.06). No relationship was found between the occurrence of minor malformations and first trimester maternal haemoglobin A1. Two of the seven congenital malformations were diagnosed antenatally at a time when therapeutic abortion could be offered. Expert antenatal ultrasound scanning should be offered to all pregnant diabetic women as poor glycaemic control at the time of conception and organogenesis, as evidenced by raised first trimester HbA1, predisposes to congenital malformation.     

Arnold-Chiari畸形合并脊髓空洞症的外科治疗(附32例报告)

目的：探讨Chiari畸形合并脊髓空洞症的手术治疗方法。方法：分析我科收治的32例Chiari畸形合并脊髓空洞症患者进行手术治疗，以后颅窝减压、小脑扁桃体切除、脊髓空洞穿刺、松解四脑室正中孔蛛网膜粘连为主，达到解除后脑受压，解除粘连，恢复枕大孔区CSF循环通畅的目的。结果：随访24例患者中，临床症状完全消失18例，好转2例，术前有头痛、颈痈或肩臂病症状者均有显著减轻，3例自觉症状无变化，复查MRI显示21例空洞明显缩小。结论：后颅窝减压、松解四脑室正中孔蛛网膜粘连，恢复枕大孔区CSF循环通畅是手术治疗Chiari畸形合并脊髓空洞症的关键。     

350例脊髓血管畸形介入治疗的护理分析

目的探讨护理工作在脊髓血管畸形介入治疗中的价值。方法通过对我院介入中心350例脊髓血管畸形患者介入治疗,针对脊髓血管畸形患者的临床特点和介入治疗方法的适应证、操作过程和预后等特点,从护理学的角度对术前、术中、术后等阶段进行讨论分析。结果术前进行有效的心理护理和健康教育;术中与介入医生及技术操作人员进行有机的配合、熟练使用输液微量泵、准确使用相关药物及认真观察病情变化;术后对患者进行严密的护理观察,可减少并发症的发生,将有助于该手术的成功。结论介入护理工作对脊髓血管畸形介入治疗手术的成败起着至关重要的作用。     

Intra-articular arteriovenous malformation of the knee

Two young men with longstanding suprapatellar masses are presented. The initial clinical diagnosis was of a synovial or soft tissue tumour. Magnetic resonance imaging showed the features of an arteriovenous malformation (AVM). Surgical exploration and biopsy confirmed the diagnosis. AVMs, although rare, should be considered as a possible diagnosis of a peri-articular swelling of the knee.     

Hematospermia associated with congenital arteriovenous malformation of internal iliac vessels

The presence of blood in the ejaculate is called hematospermia or hemospermia. While often perceived as a symptom of little significance, hematospermia can cause great concern to men who experience it. We report an unusual case of hematospermia associated with pelvic arteriovenous malformation (AVM). A 60-year-old man who visited our hospital complaining of hematospermia and pollakisuria was found to have AVM and aneurysmal changes in the left side of the pelvis using computed tomography (CT). The patient was treated with steel coil embolization of the left inferior gluteal artery, and after the procedure the hematospermia and pollakisuria remained absent without flare-ups.