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Case #13

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患者信息: 55 岁, 男性
检查指征: Ataxia

Case #13

影像所见

  • 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

诊断

Fragile X-associated tremor/ataxia syndrome (FXTAS)

示例报告

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.

讨论

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参考文献

  • Famula JL, McKenzie F, McLennan YA, Grigsby J, Tassone F, Hessl D, Rivera SM, Martinez-Cerdeno V, Hagerman RJ. Presence of middle cerebellar peduncle sign in FMR1 premutation carriers without tremor and ataxia. Front Neurol 2018; 9: 695.
  • Hall DA, Birch RC, Anheim M, Jønch AE, Pintado E, O'Keefe J, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA. Emerging topics in FXTAS. J Neurodev Disord 2014; 6(1): 31.

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