Demographics:
55 years old, Male
Indication:
Ataxia
Findings
- T2/FLAIR signal hyperintensity in the bilateral middle cerebellar peduncles, in the left dorsolateral midbrain, and in the periventricular white matter
- Ventriculomegaly, likely relating to central cerebral volume loss, with partial absence of the septum pellucidum
- Mild mucosal thickening of the paranasal sinuses
Diagnosis
Fragile X-associated tremor/ataxia syndrome (FXTAS)
Sample Report
T2/FLAIR signal hyperintensity in the bilateral middle cerebellar peduncles, in the left dorsolateral midbrain, and in the periventricular white matter. Differential considerations include neurodegenerative disease (particularly fragile X-associated tremor/ataxia syndrome (FXTAS) and cerebellar-type multiple system atrophy (MSA-C)), demyelinating disease (particularly anti-MOG), neuro-Behcet, Listeria, and neurosarcoidosis.
Discussion
References