Do Hwan Kwon, Jo Geun Yeol, Kwon Jun Koo, Kim Woo Jin
Department of Physical Medicine and Rehabilitation, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.
Ann Rehabil Med. 2018 Apr;42(2):363-367. doi: 10.5535/arm.2018.42.2.363. Epub 2018 Apr 30.
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting mutation. Botulinum toxin-A injection was administered to both calf muscles. After 2 weeks, a decrease in spasticity and an increase in range of motion were observed, and consequently, an increase in the patient's gait stability with both heels touching the ground, enabling him to walk straight independently. A definitive treatment for NBIA has not been established, and a symptomatic therapy is currently the mainstay of treatment in this case. This is the first case report of botulinum toxin injection for treatment of gait disturbance caused by spasticity in an infantile-onset PKAN.
泛酸激酶相关神经变性（PKAN）是一种神经退行性疾病，其特征是大脑苍白球（GP）中铁蓄积（脑铁蓄积性神经变性[NBIA]），表现为肌张力障碍和痉挛，导致姿势困难。一名33个月大的男孩因明显的步态障碍入院。注意到患者双侧小腿肌肉明显张力亢进，导致摇摆步态并反复滑倒。脑MRI显示GP区T2信号增强，怀疑为NBIA，随后通过检测突变得以确诊。对双侧小腿肌肉注射了A型肉毒杆菌毒素。2周后，观察到痉挛减轻，活动范围增加，因此，患者步态稳定性提高，双足跟能着地，能够独立直行。NBIA的确定性治疗方法尚未确立，对症治疗目前是该病例的主要治疗手段。这是首例关于注射肉毒杆菌毒素治疗婴儿期发病的PKAN所致步态障碍的病例报告。
