Corticobasal syndrome: Five new things.

Corticobasal syndrome (CBS) is characterized by asymmetric involuntary movements including rigidity, tremor, dystonia, and myoclonus, and often associated with apraxia, cortical sensory deficits, and alien limb phenomena. Additionally, there are various nonmotor (cognitive and language) deficits. CBS is associated with several distinct histopathologies, including corticobasal degeneration, other forms of tau-related frontotemporal lobar degeneration such as progressive supranuclear palsy, and Alzheimer disease. Accurate antemortem diagnosis of underlying pathology in CBS is challenging, though certain clinical and imaging findings may be helpful. Five recent advances in the understanding of CBS are reviewed, including clinical and pathologic features, imaging and CSF biomarkers, the role of specific genes, and the concept of a spectrum of tauopathies.

Relationship of growth to aneurysm rupture in asymptomatic aneurysms ≤ 7 mm: a systematic analysis of the literature.

BACKGROUND: The apparent paradox of natural history data suggesting low rupture risk of small asymptomatic aneurysms and the median size of aneurysm rupture remains unexplained. Aneurysm growth rates and their potential relationship with rupture risk have not been well examined in natural history studies. OBJECTIVE: To examine the question of whether small asymptomatic aneurysms ≤ 7 mm that are followed up over time rupture and to determine the relationship between aneurysm growth and rupture. METHODS: We reviewed all publications on unruptured aneurysms published from 1966 to 2009. We then selected all aneurysms ≤ 7 mm for which measurements were reported for at least 2 time points and for which initial asymptomatic status and ultimate outcome (rupture vs unruptured) were reported. Using the Mann-Whitney U test, we compared absolute diameter annual growth rate. RESULTS: Our search retrieved 64 aneurysms. Thirty aneurysms ruptured during follow-up, of which 27 were enlarged before rupture (90%). Thirty-four aneurysms did not rupture, of which 24 enlarged during follow-up (71%). There was a statistically significant trend toward larger absolute diameter growth for ruptured aneurysms vs unruptured aneurysms (3.89 ± 2.34 vs 1.79 ± 1.02 mm; P < .001), respectively. Annual growth rates for aneurysms for the 2 groups, however, were not statistically different (27.46 ± 18.76 vs 32.00 ± 29.30; P = .92). CONCLUSION: Small aneurysms are prone to growth and rupture. Aneurysm rupture is more likely to occur in aneurysms with larger absolute diameter growth, but rupture can also occur in the absence of growth. The annual growth rate in both groups suggests that rate of growth of aneurysms is highly variable and unpredictable, justifying treatment or close diagnostic follow-up.

Motor variant of chronic inflammatory demyelinating polyneuropathy in a child.

Only 2 cases of pure motor chronic demyelinating inflammatory polyneuropathy in the pediatric age group have been reported in the literature. We report on a motor variant of chronic demyelinating inflammatory polyneuropathy with anti-ganglioside antibodies, diagnosed in a 5-year-old girl who presented with progressive motor weakness over a period of 12 months with no sensory involvement. She initially responded partially to intravenous immunoglobulin therapy (1 gm/kg/month for 6 months), and then demonstrated sustained but incomplete improvement on chronic prednisone therapy (1-2 mg/kg/day), on which she has continued since 1 year and 4 months after her initial presentation 3 years ago.

Periosteal osteoblastoma of the calvaria mimicking a meningioma.

While osteoblastoma of the cranial vault is rare, the periosteal form of the tumor is highly unusual, with only one case reported in the English literature. We report on a 24-year-old woman presenting with headache and tinnitus. Magnetic resonance imaging of the brain showed an extra-axial temporal mass with findings that were suggestive of a meningioma. The mass was excised completely, and histological examination revealed a periosteal osteoblastoma arising from the inner surface of the temporal bone and adhering to the dura. The tumor was strongly positive for epithelial membrane antigen, a feature not previously described in osteoblastoma, and one that could lead to a mistaken diagnosis of metaplastic meningioma in a limited sample. A detailed literature review of 40 other reported cases of calvarial osteoblastoma is presented. Apart from being slightly more common in females, calvarial osteoblastoma is similar in all other respects to that arising at conventional skeletal sites. Accurate histological diagnosis of a calvarial osteoblastoma requires adequate sampling of the tumor, including its interface with adjacent structures. Correlation with the radiological findings is crucial for the diagnosis in most cases; however, it is not helpful in differentiating the rare intracranial periosteal variant from a meningioma.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive distal spinal muscular atrophy in a large, inbred family with onset at various ages. Because this condition had some of the same clinical features as spinal muscular atrophy with respiratory distress, we tested the disease gene for linkage to chromosome 11q and mapped the disease locus to chromosome 11q13 in the genetic interval that included the spinal muscular atrophy with respiratory distress gene (D11S1889-D11S1321, Z(max) = 4.59 at theta = 0 at locus D11S4136). The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region. In addition, the high intrafamilial variability in age at onset raises the question of whether nonallelic modifying genes could be involved in chronic distal spinal muscular atrophy.