Split rib cranioplasty for aplasia cutis congenita and traumatic skull defects: more than 30 years of follow-up.

Aplasia cutis is a rare skin defect usually presenting over the vertex of the skull. An underlying bone defect is found in approximately 20% of patients. Most skull defects close spontaneously. However, when there are no signs of ossification, closure is mandatory. We present our experience in three patients. Our first patient had an aplasia cutis with a skull defect. The split rib graft procedure was used without complications, and a good cosmetic and functional result was achieved. The second patient was operated on for cerebral bleeding after an arteriovenous aneurysm, and a bony defect could not be closed after that procedure. At a later stage, the defect was filled with split rib grafts, and sufficient protection was achieved and documented after more than 30 years. The third patient was born with an aplasia cutis congenita with a skull defect. The bony defect was filled with split rib grafts without complications at an age of 5 years. Follow-up shows a functional result with a firm skull. Patients with aplasia cutis may have skull defects that will not close by themselves. We present three patients with a bony defect who were reconstructed with split rib grafts. After a long period of follow-up, there remains good cosmetic and functional results. Defects of the skull in children can be reconstructed with split rib grafts that will accommodate the growing skeleton and give good protection of the brain from an early age on.

Brain AVM embolization with Onyx.

BACKGROUND AND PURPOSE: To report the initial experience by using a new liquid embolic agent (Onyx) for embolization of brain arteriovenous malformations (AVMs). METHODS: Between May 2000 and December 2005, 44 patients with brain AVMs were embolized with Onyx. There were 18 women and 26 men with a mean age of 42.4 years (median 44, range 14-71 years). Clinical presentation included seizures in 26 patients (59%), hemorrhage from the AVM in 13 patients (30%), subarachnoid hemorrhage from a concomitant aneurysm in 3 patients (7%), visual disturbances in 1 patient (2.3%), and in 1 patient (2.3%) the AVM was an incidental finding. Mean estimated size of the AVM was 3.9 cm (median 4, range 2-7 cm). RESULTS: In 44 patients, 52 embolization procedures were performed with 138 feeding pedicles embolized, ranging from 1 to 7 per patient. Average estimated size reduction was 75% (median 80%, range 40%-100%). Total obliteration was achieved in 7 AVMs (16%), and partial embolization was followed by surgery in 10 patients and by radiosurgery in 20 patients. Complications occurred in 6 patients, leading to death in 1 patient (mortality 2.3%) and to permanent disability in 2 patients (morbidity 4.6%). CONCLUSION: Onyx is feasible and safe in the embolization of brain AVMs. Complete obliteration can be achieved in small AVMs. Large AVMs can be adequately reduced in size for additional surgical or radiosurgical treatment.

[High-output congestive heart failure due to congenital iliac arteriovenous fistula]. / Chronische hyperzirkulatorische Herzinsuffizienz infolge einer angeborenen iliakalen arteriovenösen Fistel.

A 54-year-old man was admitted to hospital because of chronic right-sided heart failure. Echocardiography revealed dilatation of all chambers of the heart. Cardiac catheterization showed high-output heart failure due to left-to-right shunt caused by a congenital fistula between the right iliac artery and vein. The fistula was closed by percutaneous implantation of a covered stent. 15 months later, the patient denied any cardiac complaint. On echocardiography, the size of all chambers had almost normalized, cardiac catheterization proved a normal cardiac output. By angiography and oximetry, neither a residual nor a relapsing shunt were seen.

Neonatal transcatheter closure of a large pulmonary arteriovenous fistula.

A congenital fistulous connection between the right pulmonary artery and the left atrium is a rare condition, resulting in early cyanosis and cardiac failure. These patients usually required urgent surgery. We present a neonate in whom we successfully closed such a large fistula via catheterization with an Amplatzer Duct Occluder, resulting in rapid clinical improvement, and obviating the need for surgical repair.

The congenital intrahepatic arterioportal fistula syndrome: elucidation and proposed classification.

Congenital intrahepatic arterioportal fistula is a rare but treatable cause of portal hypertension for which early recognition may lead to successful radiological management. We report an infant presenting with severe failure to thrive, melena and splenomegaly due to a congenital intrahepatic arterioportal fistula, successfully ablated after multiple trials of superselective transarterial embolization. Comprehensive review of congenital cases provides an understanding of the key clinical features defining this syndrome. A classification system is proposed, upon which treatment decisions may be based.

Congenital vascular malformations: the persistence of marginal and embryonal veins.

BACKGROUND: In about 18% of cases with conginental vascular malformations we find a perspective of an atypical truncular vein, located along the outside of the leg, frequently extended from the dorsal foot up to the bottom. In presence of a normally developed system of the deep collecting veins of the lower limb and within the pelvic outflow we are talking about a persisting marginal vein (MV). Hypoplasia or even aplasia of the main deep veins in contrary defines the persisting embryonal vein (EV). Already in childhood these truncular dysplastic veins tend to develop varicose enlargement, causing severe reflux of a huge volume of blood--even more when being associated with av-fistulas (46%). In consequence a rapidly growing chronic venous insufficiency will guide to additional injuries. PATIENTS AND RESULTS: We have analysed 97 patients showing a persisting MV (n: 92 ) within a total of 102 legs. A persistent embryonal vein (EV) was seen 10 times within this clientel. The persisting truncular veins, associated with phlebectasias and typical clinical symptoms have been examined in a diagnostic "step-by-step" procedure, mainly phlebographically (ascending leg phlebography and varicography), including direct venous blood pressure measurements (phlebodynamometry) and--if needed--by arteriography, showing av-shunting fistulae in 46% of cases. CT and MRI were consulted for the exact therapy planing (frequently initially offered as a non-invasive, however, inadequate key of diagnostic). Actually now these techniques cannot replace pre-operatively the angiographic imaging techniques. CONCLUSIONS: The analysis of clinical, morphologic and functional signs, guiding to a specific therapy-relevant classification of MV's and EV's will be presented. And a specific strategy of surgical repair, interventional treatment of av-fistulas and conservative compressive follow-up treatment attempting palliative recompensation of the diseased venous outflow will be discussed also.

Prenatal diagnosis of intracranial pial arteriovenous fistula and endovascular treatment during the neonatal period.

We present a case with prenatal diagnosis of an intracranial high-flow pial arteriovenous fistula that was draining into the vein of Galen in the third trimester of pregnancy. The child was treated by transcatheter embolization with N-butyl 2-cyanoacrylate (NBCA) via the umbilical artery in the early neonatal period due to intractable cardiac failure. Hydrocephalus developed and a ventriculoperitoneal shunt was placed. At the time this report was prepared, the patient was 20 months old and without cardiac failure, but with a delay in neurological development. Prenatal diagnosis and endovascular treatment in the early neonatal period is important in preventing heart failure and resultant mortality due to such high-flow vascular malformations. To the best of our knowledge, the combination of prenatal diagnosis of an intracranial high-flow pial arteriovenous fistula draining into the vein of Galen and endovascular treatment in the early neonatal period is presented here for the first time.

Severe gastrointestinal tract bleeding in a two-month-old infant due to congenital intrahepatic arterioportal fistula.

A 2-month-old boy was referred for assessment of severe upper gastrointestinal tract bleeding and melena. On physical examination, a continuous murmur was heard over the right upper quadrant of the abdomen. A splenomegaly and dilated veins were also noted on the abdominal wall. Liver functions were normal. There was no history of trauma or jaundice. Doppler ultrasonography, magnetic resonance arteriography and angiography suggested the presence of an intrahepatic arteriovenous fistula between the phrenic artery and the portal vein. Management consisted of successful embolization by coiling of the phrenic artery. To our knowledge this is the first documented case report of a congenital fistula between the phrenic artery and the portal vein.

Spinal arteriovenous shunts presenting before 2 years of age: analysis of 13 cases.

BACKGROUND AND PURPOSE: A minority of patients with spinal arteriovenous malformations (SAVM) are symptomatic as neonates or infants. We analyzed the clinical and anatomic factors associated with this early presentation, and reviewed our experience in treating patients with these lesions. METHODS: A retrospective review of clinical records and imaging studies was performed for patients with SAVM who presented at less than 2 years of age and who were examined by the diagnostic and interventional neuroradiology service at our institution. Clinical, imaging and treatment data had been entered prospectively into a department database. RESULTS: Thirteen patients were identified that had SAVMs that were either diagnosed or that became symptomatic before 2 years of age (nine boys, four girls). These represented 13% of the SAVM seen during the same period of time. The mean age at presentation was 6.9+/-6.4 months. Of the 13 patients, 11 had neurologic symptoms attributable to the spinal lesion. The presentation was nonhemorrhagic in ten patients and associated with hemorrhage in three. Ten lesions were fistulas [spinal cord arteriovenous fistulas (SCAVFs)] (77%); two were of the nidus type of malformation. There were syndromic associations in eight patients: hereditary hemorrhagic telangectasia (HHT) in six patients, all but one of these lesions were intradural high-flow perimedullary SCAVFs (46% of overall SAVM and 56% of SCAVF), and spinal arteriovenous metameric syndrome in two patients. One patient had Hirschprung's anomaly. Eight patients underwent endovascular treatment alone, one had surgery and embolization, and four were not treated. In all patients undergoing embolization, n-butyl cyanoacrylate liquid adhesive was used. Of those patients who underwent endovascular treatment, the lesion was completely obliterated in 7 and a 90% reduction in nidal size was achieved in the remaining 2. There was one treatment complication (infection) which resolved with medical therapy. No procedure-related permanent morbidity or mortality was seen. Follow-up data were available (mean 31.4 months) in ten patients (nine treated). All treated patients were either stable or improved, with none showing further deterioration following treatment. CONCLUSION: Factors associated with early presentation in neonates and infants with spinal arteriovenous shunts include the presence of high-flow, solitary fistulas and HHT. Specifically, the presence of SCAVF in a child less than 2 years of age is highly suggestive of HHT. Despite the aggressive nature of these lesions, many are amenable to endovascular treatment, and this is associated with a favorable posttreatment course in most cases.

[Congenital renal arteriovenous fistulas--report of two cases treated by embolisation and nephrectomy]. / Wrodzone, nerkowe przetoki tetniczo-zyline leczone metoda embolizacji i nefrektomii--opis dwóch przypadków.

Congenital arteriovenous fistulas of the kidney are very rare. Options for therapy range from embolisation to nephrectomy. It depends on symptoms and extensiveness of the malformations. We report two cases of congenital arteriovenous malformations successfully managed in the first case by embolisation and in the second case by nephrectomy. Renal arteriovenous malformations remain an uncommon clinical problem which causes often diagnostic difficulties. The proper diagnosis can be made on the basis of standard diagnostic procedures such as physical examination, Doppler sonography and spiral computerized tomography.

Congenital paravertebral arteriovenous fistula: a case report.

Congenital paraspinal arteriovenous fistulae are rare and usually diagnosed after neurologic or cardiovascular manifestations. They may be discovered unexpectedly in children during clinical examination, which reveals the presence of a vascular murmur. The association with multicystic kidney is exceptional. We report 1 case with thoracic localization of a congenital paraspinal arteriovenous fistula associated with a multicystic kidney in a 3-year-old boy who was treated by endovascular embolization.

Hemodynamic disturbances associated with endovascular embolization in newborn infants with vein of Galen malformation.

OBJECTIVE: To examine hemodynamic changes following endovascular embolization in newborn infants with vein of Galen malformation and severe cardiac failure in the first week of life. STUDY DESIGN: Over a recent 5-year period, nine such infants were identified. In seven of these infants, changes in arterial blood pressure were analyzed in relation to the timing of embolization procedures. RESULTS: A significant increase in arterial blood pressure was noted after most embolizations. In two infants, this systemic hypertension was severe and treated using intravenous antihypertensive drugs. Both infants subsequently developed complete infarction of both cerebral hemispheres with sparing of the brainstem and cerebellum. Mortality in the nine infants was 33%, and 83% of the survivors were neurologically normal or near normal at follow-up. CONCLUSION: The systemic hypertension observed following endovascular embolizations may provide a protective mechanism to maintain cerebral blood flow after reperfusion injury. Lowering blood pressure in this situation may therefore be detrimental.