Fragile X-associated tremor/ataxia syndrome

Case contributed by A.Prof Frank Gaillard


Non-specific symptoms.

Patient Data

Age: 70 years
Gender: Male

A small intracanalicular left sided nodule consistent with an acoustic schwannoma. 

Increased T2 signal in the middle cerebellar peduncles is a striking abnormality with a further region of high T2 signal in the splenium of the corpus callosum. 

Case Discussion

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. 

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Case information

rID: 44196
Published: 13th Jun 2016
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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