John A. Anson

A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans

BACKGROUND Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral hemorrhage. Familial and sporadic cases are recognized, and a gene causing familial disease has been mapped to chromosome 7. Hispanic Americans have a higher prevalence of cavernous malformation than do other ethnic groups, raising the possibility that affected persons in this population have inherited the same mutation from a common ancestor. METHODS We compared the segregation of genetic markers and clinical cases of cavernous malformation in Hispanic-American kindreds with familial disease; we also compared the alleles for markers linked to cavernous malformation in patients with familial and sporadic cases. RESULTS All kindreds with familial disease showed linkage of cavernous malformation to a short segment of chromosome 7 (odds supporting linkage, 4X10(10).1). Forty-seven affected members of 14 kindreds shared identical alleles for up to 15 markers linked to the cavernous-malformation gene, demonstrating that they had inherited the same mutation from a common ancestor. Ten patients with sporadic cases also shared these same alleles, indicating that they too had inherited the same mutation. Thirty-three asymptomatic carriers of the disease gene were identified, demonstrating the variability and age dependence of the development of symptoms and explaining the appearance of apparently sporadic cases. CONCLUSIONS Virtually all cases of familial and sporadic cavernous malformation among Hispanic Americans of Mexican descent are due to the inheritance of the same mutation from a common ancestor.

Bovine pericardium for dural grafts: clinical results in 35 patients

OBJECTIVE The United States Food and Drug Administration has recently approved the marketing of bovine pericardium as a dural graft material, but literature reports of this use are limited. Bovine pericardium has been widely used for grafts in cardiac surgery and seems to have suitable properties for use as a dural graft. We report the use of glutaraldehyde-processed bovine pericardium for dural grafts in 35 patients undergoing cranial and craniospinal operations with the objective of providing a clinical assessment of this material and technique. METHODS This report is a retrospective analysis of 35 patients. All available records were reviewed and information regarding the indication for grafting, graft size, complications, and outcome were collected and analyzed for all patients. RESULTS Indications for grafting included meningioma resection, posterior fossa craniotomy, Chiari decompression, dural-based metastases, and trauma. Outcomes were good or excellent in 32 patients; the three fair or poor outcomes were not related to surgical closure. In no patient was the dural graft a significant factor in outcome. Bovine pericardium was found to be easily sutured to be watertight using standard suture material. The material is relatively inexpensive and requires no additional incision. It has low antigenicity and toxicity, good strength, and minimal elasticity. CONCLUSION In this clinical assessment, bovine pericardium was found to be an excellent dural graft material.

Spinal extradural angiolipoma: A report of two cases and review of the literature

Extradural angiolipomas are rare tumors that can produce spinal cord compression. Two patients with thoracic spinal angiolipoma are presented that were treated with surgical resection and radiation. The histological and clinical features of the 18 previously reported cases of these tumors are discussed.

Rupture of a giant carotid aneurysm after extracranial-to-intracranial bypass surgery.

We report a case of a fatal rupture of a previously unruptured giant aneurysm of the bifurcation of the internal carotid artery (ICA), which occurred after an extracranial-intracranial (EC-IC) bypass and the partial occlusion of the ICA. Interim angiography showed retrograde filling of the proximal middle cerebral artery to the aneurysm. There have been four previously reported cases of giant aneurysms rupturing after treatment with an EC-IC bypass and carotid ligation, and it appears likely that a change in pressure/flow dynamics produced by the bypass may have been the cause. The technique of carotid ligation with an EC-IC bypass is used frequently to treat unclippable intracranial aneurysms, and the resulting hemodynamic changes need to be considered carefully to prevent this type of complication. To minimize hemodynamic stress on the aneurysm, we suggest that 1) the bypass caliber should be as small as possible consistent with sufficient cerebral blood flow after ICA occlusion, and 2) complete ICA occlusion should be performed as soon as possible after the bypass.

Aneurysmal bone cyst of the thoracic spine: treatment by excision and segmental stabilization with Luque rods.

Preoperative radiological evaluation with magnetic resonance imaging and computed tomography was valuable in planning the surgical management of a destructive lesion of the posterior elements of the thoracic spine that was causing spinal cord compression in an 18-year-old woman. Preoperative recognition of bilateral involvement of the pedicles in addition to the laminae and spinous process led to use of prophylactic segmental stabilization of the spine with Luque rods after successful excision of an aneurysmal bone cyst. This case provides an example of the usefulness of computed tomographic scanning and magnetic resonance imaging in assessing the distribution and location of vertebral tumor and its potential effect on spinal stability. The efficacy of combining radical excision with stabilization for treatment of aneurysmal bone cysts of the spine is emphasized.

Resection of giant invasive pituitary tumors through a transfacial approach : technical case report

Giant invasive pituitary adenomas are rare tumors that have been reported to extensively involve the cranial base, as well as other intra- and extra-cranial structures, making surgical resection by traditional approaches impossible. We report two cases, each of a giant invasive adenoma involving the entire length of the clivus and adjacent structures that was resected via a transfacial approach with excellent results. Both tumors were in middle-aged men; one was nonsecreting, and the other secreted follicle-stimulating hormone alpha-subunit. Most previously reported giant invasive adenomas have been prolactinomas. Both tumors were resected via a transfacial approach that incorporated an osteoplastic maxillotomy with palatal division and a posterior pharyngeal incision that provided exposure from the suprasellar region to C2. Both of the patients received postoperative radiation and have done very well. Their cosmetic results were excellent. The complications included postoperative meningitis in one patient and a nasal voice in the other. The transfacial approach provides excellent access for this type of extensive midline tumor requiring resection from the suprasellar region down to the foramen magnum.

Intrasellar balloon inflation for treatment of symptomatic empty sella syndrome

Intrasellar extradural placement of a detachable vascular balloon via a transsphenoidal approach was performed successfully in a patient with primary empty sella syndrome, relieving headache and visual field defect. This technique offers an alternative approach to other methods of treating symptomatic empty sella syndrome that require packing of the sella with fat, muscle, cartilage, or bone.

Resection of Giant Invasive Pituitary Tumors through a Transfacial Approach

GIANT INVASIVE PITUITARY adenomas are rare tumors that have been reported to extensively involve the cranial base, as well as other intra- and extra-cranial structures, making surgical resection by traditional approaches impossible. We report two cases, each of a giant invasive adenoma involving the entire length of the clivus and adjacent structures that was resected via a transfacial approach with excellent results. Both tumors were in middle-aged men ; one was nonsecreting, and the other secreted follicle-stimulating hormone α-subunit. Most previously reported giant invasive adenomas have been prolactinomas. Both tumors were resected via a transfacial approach that incorporated an osteoplastic maxillotomy with palatal division and a posterior pharyngeal incision that provided exposure from the suprasellar region to C2. Both of the patients received postoperative radiation and have done very well. Their cosmetic results were excellent. The complications included postoperative meningitis in one patient and a nasal voice in the other. The transfacial approach provides excellent access for this type of extensive midline tumor requiring resection from the suprasellar region down to the foramen magnum.

Multicystic metastatic carcinoid to brain: Case report

Symptomatic intraparenchymal brain metastases from carcinoid tumors are unusual, and neurological deficits are rarely the first symptom of underlying carcinoid primaries. We report a patient with multiple cystic metastases to the brain from a lung primary who first presented with headaches and seizures. Serotonin was present within the fluid of the cystic cavities, and serum serotonin concentrations were normal. Magnetic resonance imaging of the brain revealed several metastases not present on the initial head computed tomography scan.