MR of hemorrhagic acoustic neuromas.

The magnetic resonance (MR) appearance of hemorrhagic acoustic neuromas has not previously been reported. Four patients with surgically proven acoustic neuromas containing spontaneous hemorrhage were preoperatively evaluated with MR imaging. All patients presented with new onset of symptoms and three had subarachnoid hemorrhage. Signal changes on T1- and T2-weighted spin echo sequences were characteristic for acute, subacute and chronic intraparenchymal hemorrhage. Recognition of hemorrhagic changes on MR is important since more rapid surgical intervention is required in this patient subgroup.     

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15

Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions.     

Blunt trauma to the high cervical carotid artery.

Closed injuries to the neck, occasionally associated with mandibular fractures, can result in trauma to the internal carotid artery at the high cervical level opposite the uppermost cervical vertebrae. Such arterial injuries range from spasm to intimal tear with thrombus formation, medial tear, and aneurysm formation. These types of lesions may overlap. Ten patients are presented, five with traumatic carotid occlusions and five with traumatic aneurysms. The clinical diagnosis of traumatic cervical carotid occlusion may be difficult because of the absence of physical trauma to the neck. The diagnosis of aneurysm poses fewer problems. Oculopneumoplethysmography, computerized tomographic head scanning, and carotid arteriography with cross compression are the most useful diagnostic techniques. Thrombectomy should be carried out early, particularly in the presence of fluctuating neurological signs. Aneurysms that cannot be approached directly may necessitate carotid ligation.