No abstract

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.

Both CT and MR imaging enable a diagnosis of SSS to be made, but CT provides a better depiction of all features of SSS necessary for diagnosis and differentiation from other sinus conditions, even in patients without a clinical suspicion of SSS.

In the present paper we have focused attention on the neuroimaging features of thalamic tumors in a pediatric population; based upon personal experience, we suggest a rational neuroradiological approach to the diagnostic evaluation, describe CT and MRI findings of the most common tumors, and attempt to define basic patterns in order to provide the most reliable "pathological" diagnosis.

In our experience, n-C PA may show variable CE over time in the absence of tumor/residual tumor dimension change. We recommend that CE fluctuations alone cannot be considered an indicator of tumor progression/regression.