Mehta Sahil, Lal Vivek
Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, IN.
Tremor Other Hyperkinet Mov (N Y). 2019 Aug 21;9. doi: 10.7916/tohm.v0.683. eCollection 2019.
Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington's disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson's disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations.
We describe two additional patients in their 30s with severe extensor truncal dystonia causing opisthotonic posturing in whom evaluation revealed the diagnosis of NBIA confirmed by genetic testing.
Dystonic opisthotonus may be more common in NBIA than it is reported and its presence especially in a young patient should alert the neurologists to a possibility of probable NBIA.
运动障碍的特定现象学和受累模式指向可能的临床诊断。例如，额部舞蹈症通常提示亨廷顿舞蹈病；进食性肌张力障碍提示神经棘红细胞增多症，而苦笑面容常见于肝豆状核变性。张力性角弓反张被描述为与泛酸激酶2（PANK2）和磷脂酶A2G6（PLA2G6）突变相关的脑铁沉积神经变性病（NBIA）的特征性表现。
我们描述了另外两名30多岁的患者，他们患有严重的躯干伸肌肌张力障碍，导致角弓反张姿势，经评估通过基因检测确诊为NBIA。
张力性角弓反张在NBIA中可能比报道的更为常见，其出现尤其是在年轻患者中应提醒神经科医生注意可能患有NBIA的可能性。
