成人型脑x连锁肾上腺脑白质营养不良伴腭震颤和面肌律动的齿状钙化。

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-02-09 DOI:10.1016/j.parkreldis.2025.107313

Riya Sharma, C V Sai Teja, Aditya Nayan, Manoj K Goyal, Karthik V Mahesh, Ritu Shree, Chirag K Ahuja, Manish Modi

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引用次数: 0

摘要

肾上腺脑白质营养不良是最常见的β氧化过氧化物酶体疾病，在不同年龄阶段的临床表现非常复杂，对神经科医生的诊断能力提出了挑战。我们报告一位35岁男性，有眼窝额叶功能障碍，痉挛性截瘫，小脑共济失调和特征性的口周和腭震颤，影像学表现为齿状核钙化。

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Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy.

Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.