摘要：

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。

关键词: 面部单侧萎缩, 血栓形成, 磁共振成像, 病理学

Abstract:

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-year-follow 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.

Key words: Facial hemiatrophy, Thrombosis, Magnetic resonance imaging, Pathology