患者背景:
55 歳, 男性
適応:
Ataxia
所見
- 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
診断
Fragile X-associated tremor/ataxia syndrome (FXTAS)
サンプルレポート
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.
考察
参考文献