Jacquemin Claude, Bosley Thomas M, Svedberg Helena
Diagnostic Imaging Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
AJNR Am J Neuroradiol. 2003 Sep;24(8):1678-82.
The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Our purpose was to review orbital changes in patients with craniofacial NF1.
We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, 14 years; age range 1-40 years) with craniofacial NF1.
Orbital abnormalities were documented in 24 patients. Six had optic nerve gliomas with enlarged optic canals. Twenty had PNFs in the orbit or contiguous to the anterior skull. The posterior orbit was distorted by encroachment from an expanded middle cranial fossa in 13 patients, and 18 had enlargement of the orbital rim. Other changes included focal decalcification or remodeling of orbital walls adjacent to PNFs in 18 patients and enlargement of cranial foramina resulting from tumor infiltration of sensory nerves in 16. These orbital deformities were sometimes progressive and always associated with orbital infiltration by PNFs.
In our patients with craniofacial neurofibromatosis, bony orbital deformity occurred frequently and always with an optic nerve glioma or orbital PNF. PNFs were associated with orbital-bone changes in four patterns: expansion of the middle cranial fossa into the posterior orbit, enlargement of the orbital rim, bone erosion and decalcification by contiguous tumor, and enlargement of the cranial foramina. Orbital changes support the concept of secondary dysplasia, in which interaction of PNFs with the developing skull is a major component of the multifaceted craniofacial changes possible with NF1.
1型神经纤维瘤病（NF1）眼眶畸形与丛状神经纤维瘤（PNF）之间的可能关系尚未完全阐明。我们的目的是回顾颅面部NF1患者的眼眶变化。
我们回顾性分析了31例（男18例，女13例；平均年龄14岁；年龄范围1 - 40岁）颅面部NF1患者眼眶的CT和MR成像异常情况。
24例患者存在眼眶异常。6例患有视神经胶质瘤且视神经管增宽。20例眼眶内或与前颅相邻部位有PNF。13例患者后颅窝扩大侵犯导致眼眶后部变形，18例眼眶边缘增大。其他变化包括18例患者PNF相邻眼眶壁的局灶性脱钙或重塑，以及16例因感觉神经肿瘤浸润导致颅孔扩大。这些眼眶畸形有时呈进行性，且总是与PNF眼眶浸润相关。
在我们的颅面部神经纤维瘤病患者中，眼眶骨畸形频繁发生，且总是伴有视神经胶质瘤或眼眶PNF。PNF与眼眶骨变化存在四种模式：中颅窝向后眶扩展、眶缘增大、相邻肿瘤导致骨侵蚀和脱钙、颅孔扩大。眼眶变化支持继发性发育异常的概念，其中PNF与发育中的颅骨相互作用是NF1可能出现的多方面颅面变化的主要组成部分。
