Yapay Zeka Hızlı Bakış & Çıkarımlar
AI InsightThe diagnosis is made by the presence of characteristic bone defects on radiological imaging modalities and by the absence of vascular malformations on doppler ultrasonography or computed tomography angiography.
📌 3 Maddede Bu Makale
Abstract
Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led to pulsatile enophthalmos. Although sphenoid wing aplasia in patients with NF-1 frequently occurs as painless pulsatile exophthalmos in clinical practice, as in our case it can rarely present as pulsatile enophthalmos. Globe pulsation occurs as a reflection of intracranial pulsation from direct contact of meningeal structures and globe, secondary to the defect in the posterior orbital wall. The diagnosis is made by the presence of characteristic bone defects on radiological imaging modalities and by the absence of vascular malformations on doppler ultrasonography or computed tomography angiography.