Malignant mesothelioma presenting as stroke--a case report

A case of a 64-year-old man with metastatic malignant mesothelioma is described in detail. When he presented to us he gave a history suggestive of transient ischaemic attack (TIA) 2 weeks before and 3 days after admission he developed weakness of the left upper limb. Computed tomographic scan of the brain revealed a solitary metastasis in the right cerebrum. A few days later, he developed subcutaneous metastasis in the chin. Malignant mesothelioma is considered to metastasize rarely and to spread locally. We suggest that distant metastasis in malignant mesothelioma is not uncommon and may be considered to behave like other forms of lung cancer. Treatment modalities should be studied in such patients.     

RettBASE: Rett syndrome database update

Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of RTT. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to RTT, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the RTT has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder. The swift identification of the mutations in children is crucial for pursuing the best therapeutic care. RettBASE was created in 2002 as a MECP2 variant database and has grown to become a comprehensive variant database for RTT and related clinical phenotypes, containing a curated collection of variants for MECP2, CDKL5, and FOXG1 genes. Here, we describe the development and growth of RettBASE after its inception in 2001. Currently, RettBASE holds a total of 4,668 variants in MECP2, 498 variants in CDKL5, and 64 variants in FOXG1.