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