Neurofibromatosis type 1 (NF1) is an inherited disorder often associated with optic nerve gliomas, low-grade brain tumors, and readily visible signs. Radiology. Br J Ophthalmol. CONCLUSION. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. 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. 1969 Oct; 93 (4):829–833. Diffuse neurofibroma of the orbit associated with temporal meningocele and neurofibromatosis-1. Mortada A. Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 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. We present a patient with depressive disorder resulting in suicide in a patient with NF1. 1-3 Men and women are affected equally. Subcutaneous diffuse neurofibroma of the neck: a case report. AJNR 2003; 24 ... Binet EF, Kieffer SA, Martin SH, Peterson HO. Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease. Orbital dysplasia in neurofibromatosis. 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. 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). Cranial MR imaging in neurofibromatosis. The mean time between imag-ing and pathologic diagnosis was 7.3 months (range, 0–24 months). Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. NF1 is inherited in an autosomal dominant fashion with variable pathological and clinical expression. Some stigmata of NF1 occur in the orbital region. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofi- bromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. He is also the editor of the book 'Neuroradiology: the Requisites'. 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]. AJR Am J Roentgenol. Breast cancer is the most common malignancy to metastasize to the orbit, followed by prostate cancer, melanoma, and lung cancer. Our purpose was to review orbital changes in patients with craniofacial NF1. Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 Orbital dysplasia in neurofibromatosis. Friedman JM, Birch PH. Asterion defect : Lucent defects in the calvarium near the lambdoid sutures (refer image above). Binet was a United States Public Health Service Trainee in Neuroradiology (Grant 0900-4147). 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. DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, … This is a bone dysplasia allowing the frontal lobe to herniate, not a bone erosion due to en plaque meningioma, neurofibroma or other tumor. Two patients with neurofibromatosis had orbital floor involvement. Orbital dysplasia in neurofibromatosis. Neurofibromatosis 1 (NF1) was present in seven patients and neurofibromatosis 2 (NF2) in one patient. In women with bilateral enophthalmos, metastatic scirrhous breast cancer should be considered in the differential diagnosis. Enlargement of the right middle cranial fossa as a result of greater sphenoid wing dysplasia is visible (long arrow). One such rare case of cranio-orbital-temporal neurofibromatosis with hemimegalencephaly is reported here. 12. Neoplasms that arise from the optic nerve or its sheath include glioma and meningioma. … 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. Our purpose was to review orbital changes in patients with craniofacial NF1. Cranial MR imaging in neurofibromatosis. The imaging group included five male and five female patients (mean age, 40.6± 19.1 [SD] years; range, 13–69 years) (Table 1). Two patients with orbital neurofibromatosis associated with enophthalmos are presented here with their 3D-CT imaging (Fukuta et al., 1990). 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 1988 Aug; 151 (2):381–388. Radiology. David Yousem is currently the Director of Neuroradiology and Professor of Radiology at the Johns Hopkins Hospital. Imaging preceded Radiology: Neuroradiology Upstate Comprehensive Stroke Center: Neuroradiologists Women's Health Network: Women's Imaging and Radiology Education & Fellowships . … Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Orbital Neurofibromatosis Type 1 Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease. Moore RF. To our knowledge, abnormalities of the orbital floor, however, have not been attributed to this disease in the literature until now. Otolaryngol Head Neck Surg 1998; 119:652–655 [Google Scholar] 5. de Varebeke SJ, De Schepper A, Hauben E, et al. 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). Orbital schwannomas typically involve the head and neck, and rarely occur within the orbit. 1969 Oct; 93 (4):829–833. 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. Imaging of the orbit involves detailed evaluation of the globe, bony orbit, the orbital and periorbital soft tissues, and their relationship to each other. 1931 May; 15 (5):272–279. 1988 Aug; 151 (2):381–388. Moore RF. Our purpose was to review orbital changes in patients with craniofacial NF1. We will describe and illustrate various musculoskeletal manifestations of neurofibromatosis type 1 (NF1) encountered on imaging studies. Radiology 1969; 93:829–833 [Google Scholar] 14. Our purpose was to review orbital changes in patients with craniofacial NF1. Br J Ophthalmol. At imaging, gliomas often cause fusiform … 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. ↵ 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). Jacquemin C, Bosley TM, Svedberg H. Orbit deformities in craniofacial neurofibromatosis type 1. 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 neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. Note in this case the innominate line (tangential greater wing of sphenoid) remains intact. Enlarged skull base foramina due to neurofibromas. Binet EF, Kieffer SA, Martin SH, Peterson HO. Other tumor types within this family include neurofibromas and malignant PNSTs, which are more commonly seen in patients with neurofibromatosis (NF). 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. Though these features are frequently emphasized, the psychosocial and emotional morbidities are often overlooked. 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. Sphenoid wing dysplasia—hypoplastic/absent greater wing ± lesser wing giving rise to ‘bare orbit’ sign on plain film). Our purpose was to review orbital changes in patients with craniofacial NF1. AJR Am J Roentgenol. The clinical presentation, imaging features, surgical procedures, and outcomes were defined. 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. The National Institute of Health has given the diagnostic criteria for neurofibromatosis type 1(NF1). Bognanno JR, Edwards MK, Lee TA, Dunn DW, Roos KL, Klatte EC. DIFFUSE NEUROFIBROMATOSIS WITH PROPTOSIS. Neurofibromatosis is a multisystem genetic disorder that is commonly associated with cutaneous, neurologic, ophthalmic, and orthopedic manifestations. Binet EF, Kieffer SA, Martin SH, Peterson HO. Neurofibromatosis of lid and orbit in early childhood. Imaging manifestations orbit, followed by prostate cancer, melanoma, and lung cancer greater sphenoid wing is! 1,728 patients considered in the differential diagnosis analysis of the disorder in 1,728 patients its manifestations!, Lee TA, Dunn DW, Roos KL, Klatte EC Health! 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