Woman With Left Pulsatile Exophthalmos

Abstract

Neurofibromatosis is rarely seen in emergency departments unless it becomes symptomatic. There are 3 types of neurofibromatosis. Neurofibromatosis type 1 (NF-1; von Recklinghausen disease) is the most common of the 3 types of neurofibromatosis disease. In the disease, there are skin, peripheral and central nervous system, bone, and soft tissue involvements, and there is an increase in the susceptibility to cancer. 1 Hirbe A.C. Gutmann D.H. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014; 13: 834-843https://doi.org/10.1016/S1474-4422(14)70063-8 Abstract Full Text Full Text PDF PubMed Scopus (261) Google Scholar NF-1 is seen once in 3000 births, showing autosomal dominant inheritance and affecting many systems simultaneously. 2 Ghalayani P. Saberi Z. Sardari F. Neurofibromatosis type I (von Recklinghausen’s disease): a family case report and literature review. Dent Res J (Isfahan). 2012; 9 (PMC3491339): 483-488 Google Scholar The NF-1 gene is located on chromosome 17 and encodes a type of tumor suppressor protein called neurofibromin. As a result of incomplete or incorrect folding of this protein, benign and rarely malignant nerve tumors are seen from the early stages of life. Because the disease affects many systems at the same time, the diagnostic criteria have been shaped in this direction. Diagnostic criteria include café au lait spots, neurofibromas, axillary and/or inguinal freckles, optic glioma, Lisch nodules (iris hamartomas), typical bone lesions, and NF-1 disease in first-degree relatives. 3 Ferner R.E. Huson S.M. Thomas N. et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007; 44: 81-88https://doi.org/10.1136/jmg.2006.045906 Crossref PubMed Scopus (645) Google Scholar In uncertain cases, genetic testing may be requested to confirm the diagnosis. Metin Yadigaroglu is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Samsun University, Samsun, Turkey. Twitter: @mtnydgrdr. Melih Imamoglu is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey. Twitter: @melihimam. Muhammet Fatih Beser is Emergency Specialist, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey. Twitter: @drfatih. Sinan Pasli is Assistant Professor, Faculty of Medicine, Department of Emergency Medicine, Karadeniz Technical University, Trabzon, Turkey.