No abstract

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

Calvarial lesions are frequently identified in radiological studies. A wide variety of neoplasms and non-neoplastic lesions can involve the calvarium, and their imaging appearances vary according to their pathologic features. These lesions are usually asymptomatic but may manifest as a lump with or without associated pain. Clinical information, including the age of patient, is an important factor in the diagnostic process. In this paper, we illustrate the value of cross-sectional imaging techniques by computed tomography (CT) and magnetic resonance imaging (MRI) in evaluating these lesions. We also review the literature and discuss the specific imaging characteristics of the most common calvarial lesions in order to provide information that can guide radiological diagnosis or limit differential diagnosis.

The results of this study demonstrate that MRS can differentiate high-grade gliomas from metastases, especially with peritumoral measurements, supporting the hypothesis that MRS can detect infiltration of tumor cells in the peritumoral edema.