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

• Tác giả: Chirag K Ahuja, Manoj K Goyal, Karthik V Mahesh, Manish Modi, Aditya Nayan, Riya Sharma, Ritu Shree, C V Sai Teja
• Ngôn ngữ: eng
• Ký hiệu phân loại: 297.1248 Sources of Islam
• Thông tin xuất bản: England : Parkinsonism & related disorders , 2025
• Bộ sưu tập: NCBI
• ID: 56369

Tóm tắt

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.