A 10-year-old child with generalized progressive dystonia, abnormal tongue movements, and swallowing disorders
PLA2G6 相关神经变性？铜蓝蛋白血症？泛酸激酶相关神经变性？Friedreich 共济失调？
PLA2G6-associated neurodegenerationAceruloplasminemiaPantothenate kinase-associated neurodegenerationFriedreich ataxia泛酸激酶相关神经变性：“虎眼”征Pantothenate Kinase-Associated Neurodegeneration: ‘Eye of the Tiger’ Sign泛酸激酶相关神经变性 (PKAN) 是一种罕见的遗传性疾病，涉及由于 PANK2 基因突变而导致的脑铁积累。它通常出现在 6 岁之前，也可能出现晚发形式。症状包括进行性行走丧失、肌张力障碍、强直、构音障碍、痉挛和精神问题。诊断依赖于临床体征和 MRI 显示“虎眼”征（苍白球低信号，T2WI 上中央高信号）。在我们的病例中，图像翻转可以看到（A、B 和 C，箭头）。没有具体的治疗方法。Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disease involving brain iron accumulation due to a PANK2 gene mutation. It typically appears before age 6, with late-onset forms also possible. Symptoms include progressive loss of walking, dystonia, rigidity, dysarthria, spasticity, and psychiatric issues. Diagnosis relies on clinical signs and MRI showing the “eye of the tiger” appearance (globus pallidus hypointensity with central hyperintensity on T2WI). In our case, reverse changes are seen (A, B, and C, arrows). There is no specific treatment.
