Pihlamaa Tiia, Salmi Tapani, Suominen Sinikka, Kiuru-Enari Sari
Department of Plastic and Reconstructive Surgery, Töölö Hospital of Helsinki University Central Hospital, P.O. Box 266, 00029 HUS, Finland.
Department of Clinical Neurophysiology, Helsinki University Central Hospital, Helsinki, Finland.
Muscle Nerve. 2016 May;53(5):762-9. doi: 10.1002/mus.24922. Epub 2016 Feb 26.
Hereditary gelsolin amyloidosis (GA) is a rare condition caused by the gelsolin gene mutation. The diagnostic triad includes corneal lattice dystrophy (type 2), progressive bilateral facial paralysis, and cutis laxa. Detailed information on facial paralysis in GA and the extent of cranial nerve injury is lacking.
29 GA patients undergoing facial corrective surgery were interviewed, examined, and studied electroneurophysiologically.
All showed dysfunction of facial (VII) and trigeminal (V) nerves, two-thirds of oculomotor (III) and hypoglossal (XII) nerves, and half of vestibulocochlear (acoustic) (VIII) nerve. Clinical involvement of frontal, zygomatic, and buccal facial nerve branches was seen in 97%, 83%, and 52% of patients, respectively. Electromyography showed marked motor unit potential loss in facial musculature.
Cranial nerve involvement in GA is more widespread than previously described, and correlates with age, severity of facial paralysis, and electromyographic findings. We describe a grading method for bilateral facial paralysis in GA, which is essential for evaluation of disease progression and the need for treatment.
遗传性凝溶胶蛋白淀粉样变性（GA）是一种由凝溶胶蛋白基因突变引起的罕见疾病。诊断三联征包括角膜格子状营养不良（2型）、进行性双侧面瘫和皮肤松弛。目前缺乏关于GA患者面瘫及颅神经损伤程度的详细信息。
对29例接受面部矫正手术的GA患者进行了访谈、检查，并进行了神经电生理研究。
所有患者均显示面神经（VII）和三叉神经（V）功能障碍，三分之二的动眼神经（III）和舌下神经（XII）功能障碍，以及一半的前庭蜗神经（VIII）功能障碍。分别有97%、83%和52%的患者出现额、颧和颊面神经分支的临床受累。肌电图显示面部肌肉组织中运动单位电位明显丧失。
GA患者的颅神经受累比先前描述的更为广泛，且与年龄、面瘫严重程度和肌电图结果相关。我们描述了一种GA患者双侧面瘫的分级方法，这对于评估疾病进展和治疗需求至关重要。
