Despite advances in the treatment of intracranial aneurysms (IA) in recent years, the overall outcome of patients with aneurysmal subarachnoid hemorrhage has shown only modest improvement. Given this poor prognosis, diagnosis of IA before rupture is of paramount importance. Currently, there are no reliable methods other than screening imaging studies of high-risk individuals to diagnose asymptomatic patients. Multiple levels of evidence suggest that environmental factors acting in concert with genetic susceptibilities lead to the formation, growth, and rupture of aneurysms in these patients. Epidemiological studies have already identified aneurysm-specific risk factors such as size and location, as well as patient-specific risk factors, such as age, sex, and presence of medical comorbidities, such as hypertension. In addition, exposure to certain environmental factors such as smoking have been shown to be important in the formation of IA. Furthermore, substantial evidence proves that certain loci contribute genetically to IA pathogenesis. Genome-wide linkage studies using relative pairs or rare families that are affected with the Mendelian forms of IA have already shown genetic heterogeneity of IA, suggesting that multiple genes, alone or in combination, are important in the disease pathophysiology. The linkage results, along with association studies, will ultimately lead to the identification of IA susceptibility genes. Identification of the genes important in IA pathogenesis will not only provide novel insights into the primary determinants of IA, but will also result in new opportunities for early diagnosis in the preclinical setting. Ultimately, novel therapeutic strategies based on biology will be developed, which will target these newly elucidated genetic susceptibilities.

BackgroundKlippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.ResultsWe identified a family with the KFS phenotype in which their parents have a consanguineous marriage. Radiological examinations revealed that they carry fusion defects and numerical abnormalities in the cervical spine, scoliosis, malformations of the cranial base, and Sprengel’s deformity. We applied whole genome linkage and whole-exome sequencing analysis to identify the chromosomal locus and gene mutated in this family. Whole genome linkage analysis revealed a significant linkage to chromosome 17q12-q33 with a LOD score of 4.2. Exome sequencing identified the G > A p.Q84X mutation in the MEOX1 gene, which is segregated based on pedigree status. Homozygous MEOX1 mutations have reportedly caused a similar phenotype in knockout mice.ConclusionsHere, we report a truncating mutation in the MEOX1 gene in a KFS family with an autosomal recessive trait. Together with another recently reported study and the knockout mouse model, our results suggest that mutations in MEOX1 cause a recessive KFS phenotype in humans.

Schwannomas that arise from the trigeminal nerve are rare, but this nerve is the second most frequent intracranial site of schwannoma occurrence next to the vestibular nerve. The advent of microsurgical techniques and skull-base approaches has greatly enhanced the surgical management of these tumors, and outcomes have improved markedly. This report documents 18 cases of histologically verified schwannomas that arose from the trigeminal nerve and were treated surgically in our clinic between January 1992 and July 2005. The patients were ten women and eight men of age 39.7 years (range, 22-62 years). The tumor was located in the middle fossa (type A) in five cases, in the middle and posterior fossae (type C) in nine cases, in the posterior fossa (type B) in two cases, and in the branches of the trigeminal nerve (type D) in two cases. Total excision was achieved in 17 cases, and there was no mortality in the series. Our results indicate that trigeminal schwannomas, regardless of type, can be removed via skull-base approaches. We present an algorithm for surgical management of trigeminal schwannomas based on our experience and information from the literature.

We have reported for the first lumbar epidural capillary hemangioma patient in literature. These lesions are benign and surgical treatment is curative.

For patients with small to moderate size trigeminal schwannomas, gamma-knife radiosurgery is associated with good tumour control and a minimal risk of adverse radiation effects.