Orbital neurofibroma radiology. 3% of all orbital tumors 2.
Orbital neurofibroma radiology Neurofibromas are generally divided into five morphological forms 1-8:. Ultrasound evaluation has not been reported in literature yet. Furthermore, it is a segmental neurofibromatosis (SNF) according to the classification of Riccardi, because the lesions are strictly unilateral in the absence of a family history or systemic complications. Medline Google Scholar. However, they may also present in patients without the stigmata of neurofibromatosis type 1 [], or forme fruste Orbital masses include a broad spectrum of benign and malignant entities. Belzberg A, Fayad L. localised/nodular intraneural neurofibroma Case 2, 53-year-old female, left orbital myxoid neurofibroma. gapping bony defect in the posterior aspect of Pediatric neoplastic extraocular soft-tissue lesions in the orbit are uncommon. Lesions can mold to the surrounding structures, appearing cone-shaped when involving the orbital MRI patterns in orbital malignant lymphoma and atypical lymphocytic infiltrates. 2005;15:159–74. Computed Tomography imaging revealed a large 4. It may be present at birth or develop within the first year of life, grow rapidly during childhood and is fully developed by adulthood. On T2-weighted images, Imaging characteristics of orbital peripheral nerve sheath tumors: Analysis of 34 cases. orbit sign suggestive of the absence of lesser wing of sphenoid which was confirmed with computed tomography (CT) scan. Maxillary nerve The nV2 leaves the cavernous sinus via the foramen rotundum and enters the pterygopalatine fossa. Pathology NF1 manifests in th Although it may be difficult to differentiate these benign masses from other orbital tumors on radiologic imaging, the CT and, in particular, the MR imaging characteristics can sometimes point to the di Orbital schwannoma and neurofibroma: role of imaging Neuroimaging Clin N Am. The plain skull film findings of 7 patients with neurofibromatosis and orbital dysplasia, ranging in age from eighteen months to fifty-seven years, are summarized in Table I. Children and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. 1 Multiparametric MR added further value to conventional MRI by allowing functional assessment of lesions. 5% of patients with neurofibromatosis type 1 []. The tumors particularly involve the central and peripheral nervous systems: neurofibromatosis type 1 When they occur in patients with neurofibromatosis type 2 (NF2), schwannomas usually present by the 3 rd decade 4. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2 MRI of infiltrative orbital/peri-orbital plexiform neurofibroma and sphenoid wing dysplasia. 1097/00006534-199809030-00005 The target sign of peripheral nerve sheath tumor (PNST) is a lesional pattern of T2 signal on MRI consisting of a central area of low intensity surrounded by a T2 hyperintense rim. Plast Reconstr Surg. The various NF1-associated intra-abdominal neoplasms can be categorized by their cellular origin: neurogenic neoplasms, The diagnosis of neurofibromatosis type1 (NF-1) was made by the association of a plexiform neurofibroma and dysplasia of the sphenoid bone. As mentioned previously, neurofibromatosis is an inheritable disease. We retrospectively evaluated 43 primary or recurrent neurofibroma (NF) specimens from 26 patients (2002 to 2018) at the King Khaled Eye Specialist Hospital, Saudi Arabia. Associations. Current Medical Imaging Formerly Current Medical Imaging Reviews, Vol. Transcranial correction of orbital neurofibromatosis. Common clinical symptoms presented by patients with these types of tumors include eyelid swelling, Thesefindings were confirmed by MRI which was suggestive of an orbital schwannoma Management and Outcome: The patient underwent a lateral orbitotomy for the removal of the tumor. It can be seen isolated or associated with underlying plexiform neurofibroma. Although patient history and exam findings may help distinguish between certain types of orbital masses, imaging is Tumor growth rate plotted against patient’s age at initial MRI for plexiform neurofibromas (PN) (A) and distinct nodular lesions (DNL) (B). The orbit is host to many peripheral nerves including sensory nerves, which are branches of cranial nerve V; sympathetic and parasympathetic fibers; and oculomotor, trochlear, and abducent nerves to the extraocular muscles. Imaging of plexiform neurofibromas demonstrates multi-lobulated, non-encapsulated Neurofibromas are benign (WHO grade 1) peripheral nerve sheath tumors that are usually solitary and sporadic. 25, No. This review focuses on some of the common orbital masses. 004. 2005 Feb;15(1):159-74. In orbital optic nerve gliomas, eventually, mass effects will also occur with proptosis. A,Infiltrative orbital-periorbital plexiform neurofibroma (OPPN) resulting in anisometropic and deprivational amblyopia. An orbital mass carries a wide differential. 1. 2006;142(3):456–63. its imaging appearance has been well docu-mented. Panel A: An axial brain CT reveals absence of the right greater wing of the sphenoid bone marking the lateral wall of the orbit and the posterior and middle ethmoid air cells. Cross-sectional imaging is mandatory for the detection, characterization, and mapping of these lesions. Objective: To explore the magnetic resonance imaging (MRI) features of neurofibromatosis type 1 (NF1) with orbital involvement. In this context, cross A wide variety of space occupying lesions may be encountered in the orbit. Friedman JM, Birch PH. Orbital neurofibromatosis 1. Neurofibromatosis type 1 (NF1; von Recklinghausen disease) is an autosomal dominant disorder that affects 1 in 3500 births worldwide [1–3]. Note hypoplastic right maxillary On MRI, localized neurofibroma lesions usually show nonspecific signal intensity and variable contrast enhancement. Right thalamic signal abnormality consistent with FASI. Diagnosis of the condition was not easy and the management was a challenging task which needed Radiology. All of them underwent MRI scans of High-resolution head computed tomography (CT) with 1–3 mm image thickness and 3-Tesla magnetic resonance imaging (MRI) were performed to assist in assessing extent of NF-related disease and deformity. Most schwannomas are solitary (90%) 2,9 and sporadic, however, there is an association with neurofibromatosis type 2 (NF2) (abnormality of chromosome 22). This case-based review discusses imaging manifestations of NF1 in the abdomen and pelvis, highlighting key genetic associations and management to elucidate features different Axial post-contrast T1-weighted MRI showing homogeneously enhancing soft tissue along the course of right trochlear nerve entering the superior orbital fissure. Lesions can mold to the surrounding structures, appearing cone-shaped when involving the orbital apex or dumbbell-shaped when involving orbital fissures. It is the classical frontal radiograph sign of neurofibromatosis type I (NF1). If postseptal, it should be established as a process arising primarily intraconally (Chapters 57–60), extraconally (Chapters 62 and 64), or transcompartmentally. Axial T2FS image at the level of orbits shows fusiform T2 hyperintense lesion causing enlargement of bilateral orbital, canalicular segments of optic nerves Neurofibromatosis type 1 (NF1) is an autosomal dominant disease occurring in approximately one in 3500 births. Orbital The Radiology of Orbital Meningioma pETER MACPHERSON From the Department of Neuroradiology, Institute of Neurological Sciences, Southern General Hospital, Glasgow G51 4TF During a five-year period three patients with primary and 14 with secondary orbital meningiomas were examined- The appearances seen on plain films, subtraction angiography Isolated orbital neurofibroma (INO) without systemic neurofibromatosis is rare. Introduction Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) are usually diagnosed in childhood and can grow rapidly during this period. CT and MR imaging frequently help confirm the presence of a mass and define its extent. 2005. Orbital dysplasia in neurofibromatosis. A definitive diagnosis can be made through Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. Serial MRI imaging is the modality of choice for disease monitoring. 2. Clinical symptoms and signs are often insufficient to MR Imaging of the Orbits: Anatomy and Patholgy Bela Ajtai, MD, PhD Dent Neurologic Institute 2019. 1016/J. We investigated the possibility that these changes may be progressive. Infection, neurofibroma, adenocarcinoma, mucoepidermoid, adenoid cystic A 16-year-old male presenting with maxillary, mandibular and orbital neurofibroma. MRI revealed expansion and Neurofibroma is common, representing approximately 5% of all benign soft-tissue tumors in large surgical series. 1998;102:633–642. The name neurofibromatosis type 2 has been described as a misnomer because neurofibromas are not a common part of its constellation of abnormalities, and it is not pathologically related to neurofibromatosis type 1 5. MRI studies of the orbit are distinguished by the mandatory use of fat suppression techniques, both before and after intravenous contrast enhancement. Equally important, imaging in orbital schwannoma & neurofibroma 163. Imaging plays pivotal role in detection and monitoring of benign and malignant tumours associated with NF 1. Previous reports including MRI with elaboration of the ultrastructural features of the cellular and extracellular components in INO do not exist. 1 33. Radiology 1969; 93:829–833. localized/nodular intraneural neurofibroma MRI is generally the preferred imaging method for assessing orbital masses in children, while CT is useful for characterizing changes of the bony orbit. Early multimodality imaging work-up and recognition of the key imaging features of these lesions allow narrowing of the differential diagnoses in order to direct timely management. Although the orbit is a small anatomical space, the wide range of structures present within it are often the site of origin of various tumours and tumour-like conditions, both in adults and children. ” 1,5,18–21 Plexiform neurofibroma is an unusual type of Magnetic resonance imaging (MRI) Plexiform neurofibromas that occur in and around the eye have been termed as orbital-periorbital plexiform neurofibroma (OPPN) . Orbital varix is a rare entity, accounting for less than 1. These usually benign tumors, called neurofibromas and schwannomas, can occur on any nerve in the area except the optic nerves, which lack Schwann cells. g. In addition to the bare orbit sign, it is 1. 1983;71:751–8. In 10% of patients, PNF involve the orbital-periorbital area and may cause visual problems including glaucoma, visual loss from amblyopia (deprivational, strabismic, or refractive), optic nerve compression, or MRI is generally the preferred imaging method for assessing orbital masses in children, while CT is useful for characterizing changes of the bony orbit. 0 33. 6 ). A majority of cases are localized (90%), and not associated with neurofibromatosis Type 2. These are benign skin tumors that occur in less than 10% of patients with NF1, and they can involve the eyelid, eyebrow, orbit, and the temple. Radiographic features. The major presenting complaint in all cases was pulsating A, Infiltrative orbital-periorbital plexiform neurofibroma (OPPN) resulting in anisometropic and deprivational amblyopia. 4 To evaluate and compare the clinical and histopathological profile of primary and recurrent orbital-periorbital plexiform neurofibromas (OPPN) in patients with neurofibromatosis type 1. The differentiation from secondary orbital meningioma of intracranial origin is sometimes difficult on image, but there are some keys imaging findings to suspect them (1). Localized or isolated neurofibromas are peripheral nerve sheath tumors and are rare in the orbit, representing less than 1% of orbital tumors [1, 2]. Numerous bilateral enhancing mass lesions in the orbits, parotid glands, superficial and Individuals with the inherited disorder neurofibromatosis type 2 are predisposed to multiple schwannomas. Panoramic view shows multiple tooth impactions, bone loss on the right side of the maxilla and elevation of the antral floor without a gross welldefined lesion. Among 34 cases of orbital peripheral nerve sheath tumors, 21 were schwannomas, 12 were neurofibromas, and 1 was a plexiform neurofibroma. They are characterized by imaging by an enlarged optic nerve seen either on CT or MRI. In addition, MRI showed This patient has a reported history of neurofibromatosis type 1, with the extensive enhancing left orbital soft tissue most likely representing plexiform neurofibromas. MRI demonstrated a typical right-sided periorbital neurofibroma consisting of an area of diffuse edema with associated heterogeneous enhancement within the soft tissues overlying the anterior frontal calvarium that extended into the periorbital/preseptal soft tissues and extraconal space of the right orbit (Figures 1 and 2). "neurofibromatosis-type-1-with-optic-pathway-gliomas-1","caption":"Case 9: in Pediatric orbital masses are not common but encompass a wide spectrum of benign and malignant entities that range from developmental anomalies to primary and secondary orbital malignancies and metastatic disease. Panel B: A coronal face CT shows the absence of the superior and medial right orbital walls. Eur J Radiol 2005;53(2) :175–181. Differential diagnosis tumours lymphoma metastasis lacrimal gland or duct tumours rhabdomyosarcoma of the orbit retinoblastoma optic nerve meningioma optic nerve glioma schwannoma (of trigemi At imaging, orbital schwannomas are well-defined masses generally aligned with the long axis of the involved nerve. It is most commonly associated with localized neurofibroma, having been shown to correspond histopathologically with a dense central area of collagenous stroma surrounded by On MRI, localized neurofibroma lesions usually show nonspecific signal intensity and variable contrast enhancement. Both MRI and MDCT yield highresolution Orbital Lesions: Differentiating Vascular and Nonvascular Etiologic Factors Results: Neuroimaging manifestations of NF1 may be classified as: intracranial (for example; neurofibromatosis bright objects, gliomas, hydrocephalus, vascular dysplasia), head and neck/orbital (plexiform neurofibromas, optic pathway gliomas, sphenoid wing dysplasia) and spinal (neurofibromas, astrocytomas, kyphoscoliosis, dural ectasia and Solitary schwannomas affecting the orbit are rarely associated with systemic features of neurofibromatosis, unlike localized orbital neurofibromas, which have an 11%–28% association with systemic neurofibromatosis or a family history of neurofibromatosis. Pathologic examination con firmed neurofibroma. Epidemiology. Plexiform neurofibroma (PN) involving the eyelid, orbit, periorbital, and facial structures has been labeled as orbital-periorbital PN (OPPN). 1016/j. All images are fat suppressed with STIR (short tau inversion recovery) technique. The localized stem gliomas, plexiform neurofibromas, and orbital gliomas are MR imaging can diagnose potentially debilitating tumors before theybecomeclinicallyevident. Imaging To assess imaging utilization practices across clinical specialists in neurofibromatosis type 1 (NF1) for the evaluation of symptomatic and asymptomatic children and adults with or without plexiform neurofibromas (PN). Am J Med CT and MRI of Orbital Abnormalities in Neurofibromatosis and Selected Craniofacial Anomalies BruceLinder, MarioCampos, MichaelSchafer 1987Jul1 | Radiologic Clinics of North America, Vol. It has been reported to occur most commonly among The bare orbit sign, is described as a characteristic appearance of the orbit, seen when the innominate line is absent. All 7 showed obvious stigmata of neurofibromatosis, e. Plexiform neurofibromas (PNs) involving the eyelid, orbit, periorbital, and facial structures (orbital-periorbital plexiform neurofibroma [OPPN]) can result in significant visual loss in children. This article focuses on orbital cavernous hemangiomas. PN in two specific locations, orbital–periorbital plexiform neurofibroma (OPPN) and paraspinal In summary, our report highlights that individuals with NF1 and extensive cranial defects can still be asymptomatic. Plexiform neurofibromas are benign, diffuse or nodular growing tumours of the nerve sheath arising in approximately 40–60% of patients with NF1, depending on the use of WB-MRI to identify clinically undetectable On MRI, neurofibromas show homogeneous low to intermediate signal intensity on T1-weighted images. Only 1 of the 677 patients with a normal neurofibroma. It typically manifests in infants and young children. Peripheral nerve sheath tumors of the orbit and ocular adnexa are a rare group of neoplasms hallmarked by nonspecific clinical presentations, variable tumor locations, challenging therapeutic efforts, and occasional diagnostic dilemmas. A: A non-uniform density mass of left orbit with a size of 33 mm × 30 mm × 21 Objective: To assess imaging utilization practices across clinical specialists in neurofibromatosis type 1 (NF1) for the evaluation of symptomatic and asymptomatic children and adults with or without plexiform neurofibromas (PN). 02. Aim To determine the role of diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) values in differentiating benign and malignant orbital masses. Any orbital mass or disease process may be approached by first establishing whether it is preseptal (Chapters 70 and 71) or postseptal (Chapters 57–60, 62, and 64). Methods: We retrospectively reviewed the MRI findings of orbital abnormalities in 80 NF1 patients (86 orbits). Their clinical presentation is similar to the orbital schwannomas and present as a localised orbital mass with slow progressing painless or mildly painful proptosis in young to middle aged adults. . Neurofibromas often have a similar appearance to schwannomas, though plexiform neurofibromas typically show a more infiltrative growth pattern (Fig. The surgical management of orbital neurofibromatosis. It subdivides into three smaller branches. Exophthalmos and ocular symptoms should prompt a search for orbital neurofibromas or SWD. 3% of all orbital tumors 2. Exophthalmos and buphthalmos of right eyeball seen with posteriorly dislocated eye lens. 1989 Sep;40(5):475–9. Plain films were abnormal in 13 of the 17 cases and this was the investigation which most frequently suggested the diagnosis. 1 OPPN MRI examples of plexiform neurofibromas (PN) demonstrating tumor characteristics used in the proposed classification schema. METHODS: We conducted a retrospective review of sphenoid bone changes in all patients The symptoms and signs of localised orbital neurofibromas depend on their location in the orbit. The myxoid variant can be part of a lesser known condition called NAME syndrome (nevi, atrial myxoma, myxoid neurofibroma, and ephelides Study of neurofibromatosis imaging also has a significant role in prevention. Although it may be difficult to differentiate these benign masses from other orbital tumors on radiologic imaging, the CT and, in particular, the MR imaging characteristics can sometimes point to the diagnosis of a nerve sheath tumor. Orbital cavernous venous malformations or cavernous hemangiomas are the most common orbital vascular lesions in adults. Methods: An institutional review board-exempt survey was administered to medical practitioners caring for individuals with NF1 at the . Article CAS Google Scholar Bilaniuk LT, Murchison AP, Bilyk JR. The best imaging technique for diagnosis of orbital neurofibromas is controversial in the literature. Pathology. Unlike the relatively more common plexiform neurofibromas, localized neurofibromas tend to be well circumscribed and are not Neurofibromatosis type 1 (NF1; von Recklinghausen disease; OMIM 162200) is a fairly frequent (1 in 3000 live births), autosomal dominant, neurocutaneous disorder that has considerable clinical Neurofibromatosis 1 (NF-1) (von Rekhlinghausen disease) and neurofibromatosis 2 (NF-2) (bilateral acoustic neurofibromatosis) have been recently recognized to be distinct disorders through genetic NF1 is a condition of rare autosomal dominant genetic mutations of the NF1 gene at chromosome 17q11. The nV1 leaves the cavernous sinus through the superior orbital fissure and enters the orbit. The complementary roles of MRI and CT well shown in this case. [18] Treatment of orbital neurofibroma treatment is the same as for orbital schwannomas, with surgical excision utilizing a similar method as described above [18] [5] . The tumors particularly involve the central and peripheral nervous systems: neurofibromatosis type 1 1. @article{Kapur2005OrbitalSA, title={Orbital schwannoma and neurofibroma: role of imaging. CT may show characteristic expansion into bone Orbital neurofibromas typically present with the progressive symptoms of an orbital mass, including proptosis, globe displacement, impaired extraocular Sphenoid wing dysplasia is a characteristic finding in children with neurofibromatosis type 1 (NF1). 1 Clinical manifestations of this abnormality consist of multiple skin alterations such as CALMs and axillary freckling, and by tumoral growth along nerves, called “neurofibromas. Patients with orbital neurofibromas should be evaluated for the presence of systemic neurofibromatosis, and the plexiform variant is a commonly associated subtype. There is, however, a strong association with neurofibromatosis type 1 (NF1), particularly for the plexiform subtype. Imaging analysis of orbital diseases is facilitated by a compartmental approach that establishes differential diagnoses on the basis of the location of the process within the orbit. 5 Patients with benign orbital peripheral nerve sheath tumors give a long history of Neurofibromatosis (NF) with sphenoid wing dysplasia is a rare clinical entity. The compartmental approach to orbital imaging discussed previously provides a useful guide to an approach to orbital pathology. Optic nerve sheath meningioma (ONSM) is typically unilateral but can be bilateral, particularly in the setting of type II neurofibromatosis (2). B, Magnetic resonance imaging (MRI) of infiltrative OPPN and sphenoid wing dysplasia. Neuroimaging Clin N Am. Clin Radiol. 2 Dervin JE, Beaconsfield M, Wright JE, Moseley IF. MRI is the primary imaging modality for evaluating orbital masses in children, with US and CT playing complementary roles. MRI. Materials and Methods After obtaining institutional ethical board approval and informed consent from all patients, an observational study was done for a period of 24 months in the radiology Neurofibromas are benign (WHO grade 1) peripheral nerve sheath tumours that are usually solitary and sporadic. hypoplastic/absent sphenoid wing resulting in widening of the superior orbital fissure, elevation of the lesser sphenoid wing and ipsilateral orbital enlargement 3. The authors review a spectrum of masses and tumor mimics that Orbital MRI protocol with additional postcontrast 3D FLAIR and T1 through the brain. We review these tumor types and provide an updated summary on t Plexiform neurofibromas are another characteristic symptom seen in patients with NF1. Invariably it is possible to determine the compartment of origin of a lesion and provide an appropriate list of differential diagnoses. Edward}, journal={Neuroimaging clinics of North America}, year={2005}, volume={15 1}, pages={ 159-74 Neoplasms that derive from peripheral nerves include schwannoma and neurofibroma, the latter of which is associated with neurofibromatosis type 1. Approximately 4% of all orbital neoplasms are peripheral nerve tumors and primarily consist of neurofibromas and neurilemmomas or Schwannoma (Neurilemoma) Clinical Features. orbital lesions, and imaging is essential for narrowing the diagnostic considerations and determining the most appropriate management strategy. This review focuses on multiparametric imaging of orbital tumours. CT findings in orbital tumours of nerve sheath origin. 004 Corpus ID: 24615462; Orbital schwannoma and neurofibroma: role of imaging. BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Skull changes Orbital involvement by neurofibromatosis type 1 (NF 1) and type 2 (NF 2) are uncommon despite 25% to 30% occurrence in the head and neck. MR imaging is particularly valuable for evaluation of orbital neoplasms, as it provides critical anatomic information about ocular structures involved, perineural spread, and intracranial extension. 14. At imaging, orbital schwannomas are well-defined masses generally aligned with the long axis of the involved nerve. Orbital manifestations of neurofibromatosis type 1 (NF1) reflects a mix of CNS, musculoskeletal and ocular disease. Diffuse neurofibroma is an uncommon subtype of neurofibroma that has received little attention in the imaging literature. This pictorial review presents the most common and characteristic non-emergent pediatric orbital lesions, stressing their MRI and CT appearances, including CT and MR imaging are particularly important in the diagnostic investigation of patients with vascular disorders of the orbit. Neurofibroma (in orbital apex) Tumors III. A 44-year-old male presented with Buphthalmos is a descriptive term which simply means an enlarged eyeball or ocular globe due to increased intraocular pressure (glaucoma), without deformation or intrinsic mass lesion. ONSC: The gamut of imaging appearances was characteristic for a plexiform neurofibroma and an imaging guided biopsy confirmed the same. Our purpose was to review orbital changes in patients with craniofacial NF1. NF1-associated orbital manifestations result from a variable combination of three main components: the presence of optic nerve glioma, sphenoid wing dysplasia and peri-orbital plexiform neurofibromas. Usually, only one orbit is affected, commonly associated T1 MRI image showing a 24x12x16 millimeter right, superior orbital neurofibroma that appears as an isointense, well circumscribed, extraconal mass. Neurofibromas are classified within the tumors that affect peripheral nerves. Other orbital tumors Neuroblastoma-most commonly metastatic-typically involves the orbital roof and lateral wall, sphenoid wing OBJECTIVE. Compare with normal left orbital roof (marked with short arrow). debulking of orbital neurofibroma for cosmesis; debulking of left upper and lower lids 5 Years ptosis repair OS; tumour debulking, eyelid Terminology. Unlike the relatively more common plexiform neurofibromas, localized neurofibromas tend to be well circumscribed and are not The Role of High-Resolution Computed Tomography and Magnetic Resonance Imaging in the Evaluation of Isolated Orbital Neurofibromas. Although it is believed to be congenital, and thus present at birth, patients typically do not become symptomatic until later childhood or early adulthood (10-30 During a five-year period three patients with primary and 14 with secondary orbital meningiomas were examined. The overall imaging appearance is most compatible with a benign lesion of a non vascular cause. Methods: Clinical and pathological findings are presented in a patient with an orbital tumor. Purpose: To report a case of an unusual orbital tumor with histologic features of both neurofibroma and schwannoma. Vascular malformations, idiopathic orbital inflammatory and histiocytic lesions, primary optic nerve disorders, and sino-orbital diseases are discussed To evaluate the utility of screening brain/orbital magnetic resonance imaging (MRI) in a large population of children with neurofibromatosis type 1 (NF1) over a 20-year period. The superior softtissue contrast are intrinsic to MRI is complemented by the better depiction of calcification and bone changes with CT. Arrow indicates the forward protrusion of the anterior temporal lobe and displacement of the orbital contents. More recently MEK pathway inhibitors have shown great promise in minimizing the growth of plexiform neurofibromas. Areas of hypercellularity with nuclear pleomorphism and hyperchromatism may be seen surrounded by fibrosis In addition to cutaneous involvement, neurofibromas and plexiform neurofibromas may involve the spinal cord and spinal nerve roots with the aforementioned imaging features (Figs 12, 13, E3, E4). Thoseopposedarguethatclinical treatment is rarely affected and note the necessity of sedation for Two cranial CT scans and 1 coronal MRI reveal extensive bone dysplasias. In the majority of cases it indicates the presence of congenital (infantile) glaucoma. Right intra-orbital plexiform neurofibroma is also seen (marked with curved arrow). Multiple schwannomas are characteristic of neurofibromatosis Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Unlike the relatively more common plexiform neurofibromas, localized neurofibromas tend to be well circumscribed and are not typically Neurofibroma. When a lesion follows the course of a CN, the radiologist’s roles are to confirm the imaging features of schwannoma and exclude appropriate differential considerations. Results: Orbital magnetic resonance imaging in a 51-year-old female revealed a heterogeneously enhancing right orbital mass. doi: 10. Google Scholar. B, Magnetic resonance imaging (MRI) of infiltrative OPPN and sphenoid wing dysplasia. Neurofibromatoses (NF) comprise a number of clinically and genetically distinct inherited conditions that carry a high risk of tumor formation. Appearance on MRI is the same morphologically as on CT, with the following signal intensities: T1. Central nervous system manifestations of Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are relatively common among these patients and have a variety of expressions. MRI provides signal intensity and vascular flow characteristics, When they occur in patients with neurofibromatosis type 2 (NF2), schwannomas usually present by the 3 rd decade 4. NIC. The detection of SWD and other cranial defects relies on high degree of clinical suspicion and the use of appropriate radiological imaging. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. MRI provides signal intensity and vascular flow characteristics, enhancement patterns, location, and extent of orbital lesions. Imaging Manifestation of Orbital Involvement. nic. 41,42 NF1 orbital abnormalities include plexiform neurofibromas (PNFs), optic nerve pathway glioma (ONG), multiple localized neurofibroma (NF), sphenoid wing dysplasia, buphthalmos and optic nerve sheath Orbital Disorders. The localized form, which is the most common manifestation, is familiar to Radiologists, as the imaging appearances have been extensively reported and documented [1]. Cavernous malformations are found throughout the body. 6 Differentiation Between Schwannomas and Neurofibromas in the Extremities and Superficial Body. Introduction. The diagnosis was confirmed by the updated National Institute of Health (NIH) criteria. Imaging of the spinal cord should be considered in the clinical context of a NMO-SD. Neurofibromas (NF) can Among the available imaging modalities, computed tomography (CT) and magnetic resonance imaging (MRI) remain the investigation of choice for evaluating orbital pathologies. For a general discussion of the underlying condition, please refer to the article NF1. The anterior cranial fossa contents are They are characterised by imaging by an enlarged optic nerve seen either on CT or MRI. ↑ 33. Some of these children develop proptosis and vision loss secondary to the spheno-orbital encephalocele. Orbital-Periorbital Plexiform Neurofibroma. The constellation of imaging findings is pathognomonic of neurofibromatosis Neurofibromatosis (NF) with sphenoid wing dysplasia is a rare clinical entity. As these lesions age, they become more hypo-cellular, with a predominance of collagen producing the variant known as the ancient schwannoma. Often these masses are asymptomatic or show a slow growth rate, so that emergence of clinical symptoms is prolonged. MR imaging is particularly valuable for evaluation of orbital neoplasms, as it While orbital imaging often represents a final common pathway for the workup of adult orbital tumors prior to obtaining a tissue diagnosis, The term “solitary” neurofibroma is used to differentiate this entity from multiple neurofibroma in which two or more neurofibromas occur in the same orbit. Complete excision was Case 5: Neurofibroma Clinical Presentation: A 30-year-old male with a known history of neurofibromatosis type 1 presented with a slowly MRI brain and orbits show innumerable neurogenic tumors including bilateral orbital neurofibromas (b–e). Other ocular symptoms or visual disturbances were absent. Patients may be The introduction of volumetric MRI analysis of PNs has allowed investigators to closely monitor small changes Figure 3. Download: Download high-res image (72KB) Download: Download full-size image; CT is usually performed for orbital imaging, although Plexiform neurofibromas are benign, diffuse or nodular growing tumours of the nerve sheath arising in approximately 40–60% of patients with NF1, depending on the use of WB-MRI to identify clinically undetectable plexiform neurofibromas (Table 7)29,62,63 Plexiform neurofibromas involving the eyelid, orbit, and periorbital structures have been Plexiform neurofibromas, causing mechanical ptosis and proptosis, optic nerve gliomas, and sphenoid wing dysplasia are some of the more common orbital and eyelid findings in NF. Certain orbital tumors are unique to pediatric patients, such as retinoblastoma and neuroblastoma. Plexiform neurofibromas are essentially pathognomonic of neurofibromatosis type The use of CT perfusion imaging became a new approach in the diagnosis of orbital lesions, which opened a new era in the evaluation of hemodynamics of orbital tumors. , café au lait spots, subcutaneous tumors, or skeletal anomalies. Mafee and Reema Lamba and Deepak P. The plexiform subtype is essentially pathognomonic of neurofibromatosis 1 (NF1) and also is well reported. Neurofibromas are benign peripheral nerve tumors composed of Schwann Case Discussion A lobulated and serpentine extra-conal soft tissue mass lesion creeping along the infero-lateral aspect of the right orbit and extending to the right infra-temporal fossa through a widened inferior orbital fissure; most likely representing a plexiform neurofibroma of the infra-orbital nerve with left basal ganglionic small demyelinating lesion is likely unidentified bright Characteristic of plexiform neurofibroma, the magnetic resonance imaging showed the lesion to be infiltrative, ropelike, and hyperintense on T2-weighted images with a target-like appearance benign neurofibroma at MRI: large dimension of the mass, peripheral enhancement pattern, perilesion edema-like zone, and intratumor cystic changes. 1,2 General visual disturbances and/or ophthalmoplegia may be caused by such conditions as tumors, infections, inflammations, and vascular disorders, which may be Plexiform neurofibroma is an uncommon variant of neurofibroma, a benign tumor of peripheral nerves (WHO grade I), arising from a proliferation of all neural elements. PubMed. 22– 24 Zwicker et al 24 reported an advantage of MRI imaging in orbital neurofibromas, while other authors 22, 23 suggest a combination of MRI and CT. Patients may be asymptomatic or have neurologic deficits due to spinal cord compression, which is typically mild and occurs at the levels of C2 and C3 We report the case of a 16-year-old male with NF1 who demonstrated a plexiform neurofibroma and associated orbital findings of sphenoid wing dysplasia and buphthalmos. A series of 10 patients followed for up to 18 years is reported to describe features associated with NF, their clinical evolution, and their management. Clinical presentation Orbital tumors may arise from Schwann cells, cells in the sheaths that cover nerves. None of the patients requiring treatment had an orbital plexiform neurofibroma, and proptosis was seen in only 2 patients. An extraorbital neurofibroma fulfills 1 of 2 diagnostic criteria for NF-1. Am J Ophthalmol. Three types of neurofibroma are classically described: localized, diffuse, and plexiform [1, 2]. 1–3 NF1 involves multiple systems and lesions include neurofibromas, bony lesions, hyperpigmentation, uveal and retinal hamartoma, optic nerve glioma, meningioma, ependymoma, meningo-encephalocele, Wilms' tumor, and pheochromocytoma. bilateral optic gliomas in an infant or an orbital defect in a neonate may guide the clinician and radiologist to the probable neurofibromatosis and early disease detection may prevent future Schwannomas are well-circumscribed ovoid masses that most commonly present in the superior orbit. Crossref. However, the plexiform variety which is defined as Mutation of tumour suppression gene NF-1 causes neurofibromatosis type 1. The schwannoma, or neurilemoma, is a pure proliferation of Schwann cells. They fall under the wider classification of phakomatoses. We discuss the computed tomography (CT) and magnetic resonance imaging (MRI) findings of these NF1 manifestations as well as common central nervous system (CNS) manifestations of 3. Usually, only one orbit is affected, commonly associated with an ipsilateral extracranial disease. 63. A moderate negative correlation was observed for PN, whereas only a weak association was noted for DNL. The improved image quality of CT and MR imaging, along with dynamic CT angiography, MR angiography, MR venography, and multiphase dynamic contrast CT/MR imaging, has proven useful to delineate as well as differentiate various orbital vascular Orbital schwannoma management: a case report, literature review, and potential paradigm shift. Characteristic imaging features may help distinguish among lesions that have overlapping clinical presentations. This has allowed predicting biological behavior of pathologies and prognostication. Neurofibromata [Figure 10A and B] are benign peripheral nerve sheath tumors, usually solitary and sporadic. Multiple homogeneously enhancing plexiform, soft-tissue masses are seen in bilateral cavernous sinus region obscuring the course of 3rd, 4th, 5th, and 6th cranial nerves Orbital neurofibromatosis; FormalPara Key Messages CT is preferred for solely orbital disease, but MRI is used to investigate optic nerve, cavernous sinus, and intracranial pathology. 15, No. These tumors account for ~1% of all orbital tumors (Table 1) and are found in 1. 1 OPPN affects less than 10% of NF1 patients, and most of them track along the distribution of the trigeminal nerve. Pre- and post-contrast T1-weighted (T1w) and T2-weighted (T2w) images with and without fat suppression are the main structural magnetic resonance imaging (MRI) sequences used in orbital imaging. Additionally, it is also one of the most common inherited CNS disorders, autosomal RADIOGRAPHIC APPEARANCE. Herewith, we present a case of NF with sphenoid wing dysplasia which presented with pulsatile progressive proptosis. The histopathology examination revealed multiple areas of collagen around nerve bundles and multiple tightly packed serpentine nuclei, which were diagnostic of the entity ( Fig. }, author={Rashmi Kapur and M. Wan-ChenTsai, Hong-JenChiou, Yi-HongChou, Hsin-KaiWang, See The remainder of this article concerns itself with primary orbital venous varices. Loss of the neurofibromatosis type 1 (NF1) tumor suppressor protein causes uninhibited activation of the RAS oncogene, which leads to tumorigenesis in patients with NF1. If intraconal, it should be decided Neurofibromatosis (NF) is an autosomal dominant neurocutaneous syndrome with a prevalence of 1 in 3000 individuals. This inconsistency arose from the early 20th century misunderstanding that NF2 represented a 'central' variant of the more Smooth eros ion of the orbital roof is present, but there is no evidence of aggressive bone destruction . Am J Med Neurofibromas are known to manifest most frequently as localized lesions, less frequently as a diffuse form, and rarely as a plexiform variety [1, 2]. The main branch continues its course via the supra-orbital foramen to form the supra-orbital nerve. In the mandible, an elongated condylar neck and coronoid process, deep sigmoid notch, and oval lucency DOI: 10. 8), and are frequently associated with other stigmata of NF-1. METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, On CT imaging, orbital schwannomas are smooth, elongated, and have an oval to spindle shape, with a density similar to extraocular muscle. A plexiform neurofibroma (arrowheads - images B to D) is noted over the right fronto-temporal region, which enhances markedly after contrast administration. Olsen TG, Heegaard S. Multiple schwannomas are characteristic of neurofibromatosis Plain Skull Film Findings. The innominate line is a projection of the greater wing of the sphenoid, and its absence or destruction is responsible for this appearance. The appearances seen on plain films, subtraction angiography, venography, scintiscan and EMI scan are described and compared. Orbital schwannoma and neurofibroma: role of imaging. PN in two specific locations, orbital–periorbital plexiform neurofibroma (OPPN) and paraspinal PN, deserve special attention In addition to cutaneous involvement, neurofibromas and plexiform neurofibromas may involve the spinal cord and spinal nerve roots with the aforementioned imaging features (Figs 12, 13, E3, E4). 26 Jul 2022 | BACKGROUND AND PURPOSE: Sphenoid dysplasia associated with neurofibromatosis type 1 is classically thought to be primarily related to abnormal development of the sphenoid bone. They may also be diffuse or plexiform, the latter being pathognomonic of neurofibromatosis Type 1. While patients with Neurofibromatosis (NF) are more likely to have head and neck schwannomas with orbital involvement, the risk of orbital schwannomas in these patients is only slightly higher than in the general population. In this paper, the authors present a multimodality approach to the imaging work-up of these lesions and Individuals with the inherited disorder neurofibromatosis type 2 are predisposed to multiple schwannomas. Neoplasms that derive from peripheral nerves include schwannoma and neurofibroma, the latter of which is associated with neurofibromatosis type 1. Article Google Scholar CT imaging may cause confusion between neurofibromas and cavernous hemangiomas, requiring further imaging with MRI to distinguish between the masses. 9 Localized orbital neurofibromas have an 11%–28% association with systemic neurofibromatosis or a family history of neurofibromatosis. It grows both in the subcutaneous and deep Neoplasms that derive from peripheral nerves include schwannoma and neurofibroma, the latter of which is associated with neurofibromatosis type 1. A 6-year-old boy presented to us with complaints of painless progressive uni-ocular vision loss and progressive pulsatile proptosis. Orbital-periorbital plexiform neurofibromas (OPPN) affects about 10% (1–22%) of patients with NF1 and can cause devastating functional and cosmetic effects secondary to ptosis, proptosis and facial Computed tomography (CT) is often the first imaging method of choice in suspected orbital pathology due to its wide availability. 76, 119 This contrasts to extraorbital neurofibromas, which are characteristic of NF-1 and infrequently found outside of neurofibromatosis. These neurofibromas are soft and feel like “a bag of worms” upon palpation, and they present as a classic “S-shaped deformity” of the eyelid. MRI revealed severe right sphenoid wing and temporal bone dysplasia. "neurofibromatosis-type-1-with-optic-pathway-gliomas-1","caption":"Case 9: in Plexiform neurofibromatosis of the orbit: CT D Reed, W D Robertson, J Rootman and G Douglas 1 Department of Radiology, University of British Columbia, and Vancouver General Hospital, Van Seven patients with orbital plexiform neurofibromas (PNFs) were evaluated by com Its exact etiology is not clear. Magnetic resonance imaging (MRI) and computed tomography studies performed during the last 11 years confirmed the congenital dysplasia of right orbital roof with herniation of temporal lobe into the orbit that explain the While orbital masses may in some cases involve multiple compartments, a simple compartmental approach is the key for the diagnosis on imaging studies, and MRI is the modality of choice. fwehbo qqpcxsh gkwed nmlrsd aayujf hvyn tbvyec ioynm negfx zjfr