Maffucci综合征的临床和影像学表现

Clinical and Imaging Characteristics of Maffucci Syndrome

目的探讨Maffucci综合征的临床和影像学表现,提高对本病的认识。方法回顾性分析5例临床或手术病理证实的Maffucci综合征,所有患者均行多部位X线平片检查,3例行CT扫描,2例行MRI平扫和增强扫描。结果5例中肢体畸形轻度1例,中度4例,软组织血管瘤均累及手掌,其中1例累及口角黏膜;5例内生软骨瘤累及手足骨和尺桡骨,4例肩胛骨受累,4例双侧肢体受累者病变分布不对称,X线平片和CT表现为多发膨胀性、泡沫状骨质破坏区,其内有点片状及条状钙化,MRI平扫以稍长T1、长T2信号为主,增强扫描不均匀强化。1例同时合并卵巢粒层细胞瘤和甲状腺结节性疾病,另1例合并子宫平滑肌瘤。结论Maffucci综合征具有典型的临床和影像学表现,多种影像学检查手段有利于准确、全面反映其病情,为本病的治疗提供依据。

Objective To explore the clinical and imaging manifestations of Maffucci syndrome and improve the understanding of this disease.Methods Retrospective analysis of 5 cases of Maffucci syndrome confirmed by clinical or surgical pathology.All patients underwent multi-site X-ray plain film examination,3 cases underwent CT scan,2 cases underwent MR plain scan and enhanced scan.Results Among the 5 cases,the middle limb deformity was mild in 1 case and moderate in 4 cases.The soft tissue hemangioma involved the palm of the hand,of which 1 case involved the mucosa of the mouth and corners.5 cases of enchondroma involved the hands,feet and ulnar radius,4 cases of the scapula.The lesions of the bilateral limbs were asymmetrically distributed.The plain X-ray and CT showed multiple expansile and foamy bone destruction areas,and there were a few flakes and strips of calcification in the MRI plain scan with slightly longer T1 and longer T2 signals.There was mainly uneven enhancement after contrast administration.One case had ovarian granulosa cell tumor and thyroid nodular disease at the synchronously,and the other case had uterine leiomyoma.Conclusion Maffucci syndrome has typical clinical and imaging manifestations.A variety of imaging examination methods is conducive to accurately and comprehensively reflect its condition and provide a basis for the treatment of this disease.