AJR Am J Roentgenol. Enlarged skull base foramina due to neurofibromas. Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. The clinical presentation, imaging features, surgical procedures, and outcomes were defined. Though these features are frequently emphasized, the psychosocial and emotional morbidities are often overlooked. Enophthalmos of the affected orbit, although rare, has been described as resulting from an overwhelming increase in size of the bony orbit compared to that of the orbital contents (Van der Meulen, 1987; Morax et al., 1988; Jackson and Shaw, 1990). … DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. He is also the editor of the book 'Neuroradiology: the Requisites'. Binet EF, Kieffer SA, Martin SH, Peterson HO. Neurofibromatoses (NF) comprise a number of clinically and genetically distinct inherited conditions that carry a high risk of tumor formation.They fall under the wider classification of phakomatoses.The tumors particularly involve the central and peripheral nervous systems: neurofibromatosis type 1 Two patients with orbital neurofibromatosis associated with enophthalmos are presented here with their 3D-CT imaging (Fukuta et al., 1990). The patient has manifestations of neurofibromatosis type 1 as evident by sphenoid wing dysplasia (bare orbit sign) as well as plexiform neurofibromata involving the preseptal, septal and postseptal regions of the right orbit. Neurofibromatosis of lid and orbit in early childhood. Some stigmata of NF1 occur in the orbital region. The imaging group included five male and five female patients (mean age, 40.6± 19.1 [SD] years; range, 13–69 years) (Table 1). BACKGROUND AND PURPOSE 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. Orbital schwannomas typically involve the head and neck, and rarely occur within the orbit. CONCLUSION. Binet was a United States Public Health Service Trainee in Neuroradiology (Grant 0900-4147). Binet EF, Kieffer SA, Martin SH, Peterson HO. Neurofibromatosis 1 (NF1) was present in seven patients and neurofibromatosis 2 (NF2) in one patient. Neurofibromatosis is a multisystem genetic disorder that is commonly associated with cutaneous, neurologic, ophthalmic, and orthopedic manifestations. Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Other tumor types within this family include neurofibromas and malignant PNSTs, which are more commonly seen in patients with neurofibromatosis (NF). ↵ 2 Present address: Department of Radiology, Upstate Medical Center, Syracuse, N. Y. Excerpt A dysplasia of the bony walls of the orbit is one of the congenital anomalies associated with generalized neurofibromatosis (1–6). Orbital dysplasia in neurofibromatosis. Radiology. Orbital dysplasia in neurofibromatosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. Axial T1 fat-saturated contrast-enhanced magnetic resonance imaging shows diffuse edema with heterogeneous enhancement of the preseptal soft tissue and superolateral extraconal right orbit consistent with plexiform neurofibroma (short arrow). Cranial MR imaging in neurofibromatosis. DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. In women with bilateral enophthalmos, metastatic scirrhous breast cancer should be considered in the differential diagnosis. Otolaryngol Head Neck Surg 1998; 119:652–655 [Google Scholar] 5. de Varebeke SJ, De Schepper A, Hauben E, et al. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 NF1 is inherited in an autosomal dominant fashion with variable pathological and clinical expression. Two patients with neurofibromatosis had orbital floor involvement. Cranial MR imaging in neurofibromatosis. Imaging of the orbit involves detailed evaluation of the globe, bony orbit, the orbital and periorbital soft tissues, and their relationship to each other. Magnetic resonance imaging (MRI) of orbit and brain revealed dysplasia of the greater wing of the sphenoid bone of left side with gross thinning and scalloping of outer and inner tables of anterior squamous temporal bone. Moore RF. Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. … Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. Friedman JM, Birch PH. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 We will describe and illustrate various musculoskeletal manifestations of neurofibromatosis type 1 (NF1) encountered on imaging studies. Purpose: The aim of this study was to describe 3 cases of primary orbital schwannomatosis without associated systemic neurofibromatosis. Methods: This is a retrospective interventional study of 3 patients who presented with multiple, distinct masses in the orbit (n = 3) as well as in the hemiface (n = 1). 1988 Aug; 151 (2):381–388. Neurofibromatous involvement of the orbit and visual apparatus produces a distinctive (but not specific) radiological pattern which may include a congenital defect of the sphenoid bone, overgrowth of the bony orbit, a bulging temporal fossa, an enlarged optic canal and an abnormal pituitary fossa. Subcutaneous diffuse neurofibroma of the neck: a case report. 1931 May; 15 (5):272–279. Neurofibromatosis type 1 (NF1) is an inherited disorder often associated with optic nerve gliomas, low-grade brain tumors, and readily visible signs. Neoplasms that arise from the optic nerve or its sheath include glioma and meningioma. Cranio-orbital-temporal neurofibromatosis is an uncommon subtype of NF-1 and is characterized by pulsatile exophthalmos, orbital neurofibromas, sphenoid wing dysplasia, expansion of the temporal fossa, and herniation of the temporal lobe into the orbit. 1988 Aug; 151 (2):381–388. Radiology: Neuroradiology Upstate Comprehensive Stroke Center: Neuroradiologists Women's Health Network: Women's Imaging and Radiology Education & Fellowships . Neurofibromatosis has been reported to involve the eye and orbit by causing irregularities of the sphenoid and other facial bones and enlargement of the foramina. Our purpose was to review orbital changes in patients with craniofacial NF1. The National Institute of Health has given the diagnostic criteria for neurofibromatosis type 1(NF1). Orbital dysplasia in neurofibromatosis. The mean time between imag-ing and pathologic diagnosis was 7.3 months (range, 0–24 months). At imaging, gliomas often cause fusiform … 1 Department of Radiology, University of British Columbia, and Vancouver General Hospital, Van­ ... Manifestations of neurofibromatosis in the orbit that have been described include osseous dysplasia of the orbit, orbital neoplasms (optic gliomas, perioptic meningiomas, neurofibro­ mas, and schwannomas), buphthalmos, and plexiform neu­ rofibromas [4]. 12. AJNR 2003; 24 ... Binet EF, Kieffer SA, Martin SH, Peterson HO. Imaging preceded Asterion defect : Lucent defects in the calvarium near the lambdoid sutures (refer image above). BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Breast cancer is the most common malignancy to metastasize to the orbit, followed by prostate cancer, melanoma, and lung cancer. Enlargement of the right middle cranial fossa as a result of greater sphenoid wing dysplasia is visible (long arrow). METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, … Neurofibromatous involvement of the orbit and visual apparatus produces a distinctive (but not specific) radiological pattern which may include a congenital defect of the sphenoid bone, overgrowth of the bony orbit, a bulging temporal fossa, an enlarged optic canal and an abnormal pituitary fossa. Radiology 1969; 93:829–833 [Google Scholar] 14. We present a patient with depressive disorder resulting in suicide in a patient with NF1. 1969 Oct; 93 (4):829–833. 1969 Oct; 93 (4):829–833. Mortada A. Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 1. Sphenoid wing dysplasia—hypoplastic/absent greater wing ± lesser wing giving rise to ‘bare orbit’ sign on plain film). Diffuse neurofibroma of the orbit associated with temporal meningocele and neurofibromatosis-1. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofi- bromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Neurofibromatosis Type 1 Claude Jacquemin, Thomas M. Bosley, and Helena Svedberg BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofi-bromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Note in this case the innominate line (tangential greater wing of sphenoid) remains intact. One such rare case of cranio-orbital-temporal neurofibromatosis with hemimegalencephaly is reported here. Our purpose was to review orbital changes in patients with craniofacial NF1. Br J Ophthalmol. Moore RF. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is the most common of the neurocutaneous syndromes with an incidence of approximately 1 in 2,600 to 1 in 3,500 live births. Br J Ophthalmol. Our purpose was to review orbital changes in patients with craniofacial NF1. David Yousem is currently the Director of Neuroradiology and Professor of Radiology at the Johns Hopkins Hospital. Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease. Because NF1 is one of the most common genetic disorders, radiologists should be familiar with its imaging manifestations. To our knowledge, abnormalities of the orbital floor, however, have not been attributed to this disease in the literature until now. 1-3 Men and women are affected equally. Radiology. AJR Am J Roentgenol. 1931 May; 15 (5):272–279. This is a bone dysplasia allowing the frontal lobe to herniate, not a bone erosion due to en plaque meningioma, neurofibroma or other tumor. Our purpose was to review orbital changes in patients with craniofacial NF1.