Fragile X-associated tremor/ataxia syndrome


Limited clinical information is available about this patient, however according to the request card the diagnosis of FXTAS has been established, and imaging is consistent with this (including both major radiological criteria - MCP sign and high T2 in the splenium of the corpus callosum. 

For the sake of argument (specific history not actually provided) a typical history would be that the patient's grandson has been diagnosed with Fragile X syndrome some years earlier. 

Case courtesy of Dr David van Gelderen, Austin Hospital, Australia.