Zapatero Zachary D, Kalmar Christopher L, Kosyk Mychajlo S, Carlson Anna R, Bartlett Scott P
Division of Plastic and Reconstructive Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pa.
Plast Reconstr Surg Glob Open. 2021 Mar 18;9(3):e3483. doi: 10.1097/GOX.0000000000003483. eCollection 2021 Mar.
Congenital sphenoid wing dysplasia is one of the major diagnostic criteria for neurofibromatosis type 1, and is often considered pathognomonic for the disease. Between 5% and 12% of neurofibromatosis type 1 cases have evidence of sphenoid wing dysplasia. Sequelae of this deficiency include slow expansion of the middle temporal fossa and progressive herniation of the temporal lobe into the orbital cavity, resulting in pulsatile exophthalmos. Herein, we report a patient with greater sphenoid wing agenesis and middle temporal fossa enlargement requiring transcranial orbital reconstruction in the absence of neurofibromatosis. To our knowledge, this represents a novel craniofacial phenotype of sphenoid wing agenesis in the absence of neurofibromatosis previously not described in the literature.
先天性蝶骨翼发育不全是1型神经纤维瘤病的主要诊断标准之一，常被认为是该疾病的特征性表现。1型神经纤维瘤病患者中有5%至12%有蝶骨翼发育不全的证据。这种缺陷的后遗症包括颞中窝缓慢扩张以及颞叶逐渐疝入眶腔，导致搏动性眼球突出。在此，我们报告一例在无神经纤维瘤病的情况下蝶骨翼发育不全且颞中窝扩大并需要经颅眶重建的患者。据我们所知，这代表了一种在无神经纤维瘤病情况下蝶骨翼发育不全的新型颅面表型，此前文献中未描述过。
