Parry-Romberg综合征两例并文献复习

Parry⁃Romberg syndrome:two cases report and literature review

目的Parry-Romberg综合征是一种以单侧面部进行性萎缩伴同侧颅内病灶和(或)大脑萎缩为典型临床表现的罕见疾病,分析总结其临床表现、影像学及病理学特征,探讨微血管机制在疾病发生中的作用,可为了解疾病性质提供参考。方法与结果共2例患者分别于27和17岁发病,例1首发症状为进行性加重的左侧面部萎缩伴发作性左侧面部疼痛、抽搐和麻木,例2以左侧额顶区带状斑秃和软组织萎缩以及突发右侧肢体轻瘫就诊。头部MRI分别显示左侧额叶和岛叶大片无强化异常信号,存在占位效应(例1),或左侧内囊后肢新发腔隙性梗死(例2)。例1组织病理学检查提示脑出血、血管内血栓形成、血管壁纤维素样坏死及微血管周围轻度炎性细胞浸润,糖皮质激素治疗效果欠佳;例2采用抗血小板药物治疗,随访1年未再出现脑血管事件。结论微血管机制可能是Parry-Romberg综合征的发病机制,抗血小板药物治疗可能是此类患者的脑卒中预防方案。

Objective Parry‑Romberg syndrome is a rare disease characterized by unilateral facial progressive atrophy accompanied by ipsilateral intracranial lesions and/or cerebral atrophy,this article is aimed to analyze the clinical,radiological and pathological features of patients with Parry‑Romberg syndrome and explore the microvascular mechanism in the pathogenesis of the disease,to provide reference for understanding the nature of disease.Methods and Results The age of onset was 27 and 17 years old of the 2 patients respectively.Case 1 initially presented with left‑sided progressive hemifacial atrophy and developed paroxysmal pain,twitch and numbness on the left face.Case 2 presented with a band‑like alopecia in the left fronto‑parietal area with cutaneous atrophy,and sudden right limb mild hemiplegia.The MRI of Case 1 revealed a space‑occupying lesion in the left frontal and insular lobes without enhancement.The MRI of Case 2 showed recent lacunar cerebral infarction in left posterior limb of internal capsule.The histopathological examination of Case 1 showed hemorrhage,microvascular thrombosis,fibrinoid necrosis of vascular walls and mild peri‑microvascular chronic inflammatory cell infiltration,who was irresponsive to prednisone.Case 2 received aspirin and remained free from any cerebrovascular event at his one‑yearfollow up.Conclusions The microvascular mechanism may be the pathogenesis of Parry‑Romberg syndrome,and the antiplatelet therapy may be an optional schedule for stroke prevention and treatment in patients with Parry‑Romberg syndrome.