Neurofibromatosis is a multisystem genetic disorder that is commonly associated with cutaneous, neurologic, ophthalmic, and orthopedic manifestations. Radiology: Neuroradiology Upstate Comprehensive Stroke Center: Neuroradiologists Women's Health Network: Women's Imaging and Radiology Education & Fellowships . Two patients with neurofibromatosis had orbital floor involvement. Imaging of the orbit involves detailed evaluation of the globe, bony orbit, the orbital and periorbital soft tissues, and their relationship to each other. 12. 1969 Oct; 93 (4):829–833. … Our purpose was to review orbital changes in patients with craniofacial NF1. The clinical presentation, imaging features, surgical procedures, and outcomes were defined. Br J Ophthalmol. Diffuse neurofibroma of the orbit associated with temporal meningocele and neurofibromatosis-1. DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. This is a bone dysplasia allowing the frontal lobe to herniate, not a bone erosion due to en plaque meningioma, neurofibroma or other tumor. Neurofibromatosis 1 (NF1) was present in seven patients and neurofibromatosis 2 (NF2) in one patient. 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). CONCLUSION. Moore RF. AJR Am J Roentgenol. Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. 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). The mean time between imag-ing and pathologic diagnosis was 7.3 months (range, 0–24 months). 1-3 Men and women are affected equally. In women with bilateral enophthalmos, metastatic scirrhous breast cancer should be considered in the differential diagnosis. Radiology. Orbital schwannomas typically involve the head and neck, and rarely occur within the orbit. Though these features are frequently emphasized, the psychosocial and emotional morbidities are often overlooked. 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. 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. Other tumor types within this family include neurofibromas and malignant PNSTs, which are more commonly seen in patients with neurofibromatosis (NF). 1988 Aug; 151 (2):381–388. 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). Radiology 1969; 93:829–833 [Google Scholar] 14. 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. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. The imaging group included five male and five female patients (mean age, 40.6± 19.1 [SD] years; range, 13–69 years) (Table 1). Binet was a United States Public Health Service Trainee in Neuroradiology (Grant 0900-4147). Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. … Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 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). Purpose: The aim of this study was to describe 3 cases of primary orbital schwannomatosis without associated systemic neurofibromatosis. Neurofibromatosis of lid and orbit in early childhood. Friedman JM, Birch PH. David Yousem is currently the Director of Neuroradiology and Professor of Radiology at the Johns Hopkins Hospital. We present a patient with depressive disorder resulting in suicide in a patient with NF1. Orbital dysplasia in neurofibromatosis. Asterion defect : Lucent defects in the calvarium near the lambdoid sutures (refer image above). Orbital dysplasia in neurofibromatosis. We will describe and illustrate various musculoskeletal manifestations of neurofibromatosis type 1 (NF1) encountered on imaging studies. ↵ 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). One such rare case of cranio-orbital-temporal neurofibromatosis with hemimegalencephaly is reported here. 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). Moore RF. Our purpose was to review orbital changes in patients with craniofacial NF1. Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease. AJNR 2003; 24 ... Binet EF, Kieffer SA, Martin SH, Peterson HO. Our purpose was to review orbital changes in patients with craniofacial NF1. Because NF1 is one of the most common genetic disorders, radiologists should be familiar with its imaging manifestations. 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 (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. Some stigmata of NF1 occur in the orbital region. 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. 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. DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. He is also the editor of the book 'Neuroradiology: the Requisites'. Subcutaneous diffuse neurofibroma of the neck: a case report. Radiology. Imaging preceded Br J Ophthalmol. Neurofibromatosis type 1 (NF1) is an inherited disorder often associated with optic nerve gliomas, low-grade brain tumors, and readily visible signs. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. 1988 Aug; 151 (2):381–388. Orbital dysplasia in neurofibromatosis. Cranial MR imaging in neurofibromatosis. Note in this case the innominate line (tangential greater wing of sphenoid) remains intact. Cranial MR imaging in neurofibromatosis. To our knowledge, abnormalities of the orbital floor, however, have not been attributed to this disease in the literature until now. Binet EF, Kieffer SA, Martin SH, Peterson HO. Binet EF, Kieffer SA, Martin SH, Peterson HO. METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, … Sphenoid wing dysplasia—hypoplastic/absent greater wing ± lesser wing giving rise to ‘bare orbit’ sign on plain film). Enlarged skull base foramina due to neurofibromas. Our purpose was to review orbital changes in patients with craniofacial NF1. 1969 Oct; 93 (4):829–833. 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. Otolaryngol Head Neck Surg 1998; 119:652–655 [Google Scholar] 5. de Varebeke SJ, De Schepper A, Hauben E, et al. NF1 is inherited in an autosomal dominant fashion with variable pathological and clinical expression. Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. 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]. At imaging, gliomas often cause fusiform … BACKGROUND AND PURPOSE The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. AJR Am J Roentgenol. 1931 May; 15 (5):272–279. Two patients with orbital neurofibromatosis associated with enophthalmos are presented here with their 3D-CT imaging (Fukuta et al., 1990). Mortada A. Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 1. 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 BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. 1931 May; 15 (5):272–279. 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. Neoplasms that arise from the optic nerve or its sheath include glioma and meningioma. 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