Snoeckx A, Vanhoenacker F M, Verhaert K, Chappelle K, Parizel P M
Department of Radiology, Antwerp University Hospital, Wilrijkstraat 10, B-2650 Edegem, Belgium.
JBR-BTR. 2008 Nov-Dec;91(6):235-9.
Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report the case of a mild mentally retarded 7-year-old boy who was referred with a swelling of his left mandible. Imaging studies showed a unilocular well-defined lytic mandibular lesion, calcifications of the falx, bifid ribs and fusion anomalies of the ribs. The mandibular lesion was treated with surgical decompression and proved to represent a keratocyst on histological examination. Further clinical examination revealed cutaneous lesions, Sprengel deformity, pectus excavatum and facial dysmorphism. Based on the combination of imaging and clinical findings the diagnosis of Gorlin-Goltz syndrome was made. This was confirmed by genetic tests. During three-year follow-up the boy presented with recurrent and multiple odontogenic keratocysts. The occurrence of multiple and recurrent keratocysts at young age, should alert the radiologist to the potential diagnosis of an underlying Gorlin-Goltz syndrome. This paper reviews the imaging findings in Gorlin-Goltz syndrome, with emphasis on maxillofacial imaging.
戈林-戈尔茨综合征是一种罕见的常染色体显性疾病，累及多个器官系统，包括皮肤、骨骼和颌骨。我们报告了一例7岁轻度智力发育迟缓男孩的病例，该男孩因左下颌肿胀前来就诊。影像学检查显示下颌骨有一个边界清晰的单房溶骨性病变、大脑镰钙化、肋骨分叉和肋骨融合异常。下颌病变接受了手术减压治疗，组织学检查证实为角化囊肿。进一步的临床检查发现了皮肤病变、先天性高肩胛症、漏斗胸和面部畸形。基于影像学和临床检查结果，诊断为戈林-戈尔茨综合征。基因检测证实了这一诊断。在三年的随访中，该男孩出现了复发性和多发性牙源性角化囊肿。年轻时出现多发性和复发性角化囊肿，应提醒放射科医生注意潜在的戈林-戈尔茨综合征诊断。本文回顾了戈林-戈尔茨综合征的影像学表现，重点是颌面影像学。
