Çelebi Filiz, Karagulle Kagan, Oner Ali Yusuf
Department of Radiology, Gayrettepe Florence Nightingale Hospital, Istanbul 34000, Turkey.
Department of Radiology, Mersin State Hospital, Mersin 33000, Turkey.
Oncol Lett. 2015 Aug;10(2):951-953. doi: 10.3892/ol.2015.3300. Epub 2015 Jun 2.
Macrodystrophia lipomatosa is a sporadic, nonhereditary developmental anomaly and a rare form of congenital localized gigantism. It is characterized by the proliferation of all the mesenchymal elements of a digit or digits, and a disproportionate increase of fibroadipose tissue involving the nerve sheath, muscle, periosteum and bone marrow. In the present study, a 9-month-old boy was referred to Gazi University Hospital (Ankara, Turkey) with congenital unilateral enlargement of the right forefoot, particularly involving the second and third toes. X-ray and magnetic resonance imaging (MRI) scans were performed in order to assess the skeletal structures. The present study described the characteristic imaging features, with an emphasis on the MRI findings, of this rare congenital form of gigantism.
巨脂性营养障碍是一种散发性、非遗传性发育异常，是先天性局限性巨人症的一种罕见形式。其特征是一个或多个手指的所有间充质成分增生，以及涉及神经鞘、肌肉、骨膜和骨髓的纤维脂肪组织不成比例地增加。在本研究中，一名9个月大的男孩因先天性右前足单侧肿大，尤其是第二和第三趾受累，被转诊至加齐大学医院（土耳其安卡拉）。为评估骨骼结构，进行了X线和磁共振成像（MRI）扫描。本研究描述了这种罕见的先天性巨人症形式的特征性影像学表现，重点是MRI表现。
