目的 全面介绍先天性囊性腺瘤样畸形(CCAM)其可能的病因，临床、病理特点及诊断手段，循证探讨针对CCAM的治疗方法及预后。 方法 对我院2011年11月收治的1例罕见的CCAM患者的临床资料进行分析，并对相关文献进行复习。 结果 患者数次误诊后最终诊断为CCAM，予手术治疗后痊愈，随访1年无复发。 结论 CCAM是一种少见的、非遗传性的、错构瘤样的肺发育异常，为一种良性的肺部畸形，其特点是局部肺终末呼吸性细支气管过度生长。CCAM多通过产前影像学检查、活组织检查或术后病检诊断。手术为治愈该病的最根本、最重要措施。
ObjectiveTo investigate the characteristics of fundus image in patients with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Methods Eight eyes of 8 cases with CHRRPE were included in this study.There were 5 males and 3 females, ranging from 6 to 21 years old (mean 14.13 years).In all cases, unilateral eye was affected. The best-corrected visual acuity (BCVA) was 0.02 to 0.2. The intraocular pressure in all eyes was normal. The ocular anterior segment in all cases was alright. For all cases, fundus photography, fundus autofluorescence (AF), fundus fluorescein angiography (FFA) and spectral-domain optical coherence tomography (SD-OCT) were taken. The characteristics of fundus image were analyzed. ResultsAll the CHRRPE lesions located at posterior pole, presenting as yellow-white elevations, surrounded by hyperpigmentation. Retinal vascular tortuosity and proliferation of epiretinal membrane were found in all CHRRPE lesions. In 8 affected eyes, lesions were involved in macula and optic disc in 3 eyes (37.5%), lesions were located in macula in 5 eyes (62.5%). AF images showed lesion bulges and the surrounding hyperpigmentation corresponding to the local hypo-AF in 7 eyes (87.5%), dense epiretinal membrane corresponding to the local hyper-AF in 1 eye (12.5%). FFA showed local hypofluorescence of choroidal background corresponding to lesions and the surrounding hyperpigmentation, tortuous retinal vascular due to traction of shrinkage membranes. Retinal capillary leakage and the fluorescence brightness gradually increased in all lesions.No retinal hemorrhage, exudation, area of capillary non-perfusion, retinal and choroidal neovascularization could be found in 8 CHRRPE eyes. SD-OCT showed disorganized and elevated lesion with uneven reflectivity in inner retina, mild attenuation of the retinal pigment epithelium (RPE) and photoreceptor inner segment/outer segment junction in all CHRRPE eyes. Of the 8 CHRRPE eyes, cavernous hypo-reflective shadowing due to the shielded optical signal acquisition below dense epiretinal membranes in 2 eyes (25.0%), membrane-like hyper-reflective signals connecting with RPE in 1 eyes (12.5%). ConclusionsDecreased AF appear in the location of CHRRPE lesion and the surrounding hyperpigmentation. Hypofluorescence of choroidal background can be found in the early phase of FFA, the fluorescence brightness of CHRRPE lesion gradually increases in FFA process. The retinal elevation, attenuated signal reflection of the RPE and photoreceptor inner segment/outer segment junction in CHRRPE lesion can be verified by OCT.