While pediatric orbital tumors are most often managed in tertiary care centers, clinicians should be aware of the signs of intraocular and orbital neoplasms. In the pediatric population, a delay in diagnosis of orbital and intraocular lesions, even if benign, can lead to vision loss and deformity. Intraocular lesions reviewed are retinoblastoma, medulloepithelioma, and retinal astrocytic hamartoma. Orbital neoplasms reviewed are rhabdomyosarcoma, neuroblastoma metastases, optic pathway glioma, plexiform neurofibroma, leukemia, lymphoprolipherative disease, orbital inflammatory syndrome, dermoid and epidermoid inclusion cysts, and Langerhans’ cell histiocytosis. Vascular lesions reviewed are infantile hemangioma and venous lymphatic malformation. In conjunction with clinical examination, high-resolution ophthalmic imaging and radiologic imaging play an important role in making a diagnosis and differentiating between benign and likely malignant processes. The radiologic imaging characteristics of these lesions will be discussed to facilitate prompt diagnosis and treatment. The current treatment modalities and management of tumors will also be reviewed.
The wide varieties of rare intraocular and orbital neoplasms differ in presentation in the pediatric population when compared to these same lesions in adults. While most pediatric ophthalmic tumors are benign, they may have a significant impact on vision and may result in significant morbidity and mortality. We categorize these diseases according to etiologies as neoplastic and vascular. Some congenital tumors may present in the first year of life, while others typically present later in childhood. Clinical examination signs that should raise concern include leukocoria (white pupil), strabismus, restriction of ocular motility, asymmetric eye position within the orbit, decreased vision, high pressure in the eye, inflammation of the eyelids or conjunctiva, pseudohypopyon (inferior whitish layer in the anterior chamber of tumor cells), vitreous hemorrhage or inflammation, and an afferent pupillary defect. However, these are often late findings. Clinical presentation combined with the characteristic imaging features of the disease can narrow differential diagnoses. Imaging modalities most often used to evaluate these lesions include orbital ultrasonography (US), computed tomography (CT), and most importantly magnetic resonance imaging (MRI). Ophthalmic pathology is also critical to come to a diagnosis. In this paper, we review the epidemiology, clinical manifestations, current treatment modalities, and the imaging features that differentiate pediatric ocular and orbital lesions.
Retinoblastoma is the most common intraocular malignancy in the pediatric population. The incidence of retinoblastoma is approximately one case per 15000–20000 live births, which amounts to 9000 new cases each year. There is no gender or racial predilection, and 90% of cases are diagnosed in patients under three years of age [
The most common initial sign of retinoblastoma is leukocoria, where the light emanating through the pupil is white light reflecting off the tumor instead of red light reflecting off the retina. Other signs of retinoblastoma may include decreased vision, strabismus, redness, pain, high pressure in the eye, cellulitic-like periocular inflammation, pseudohypopyon, and proptosis in late disease [
The fourth pattern, diffuse infiltrating retinoblastoma, accounts for 1-2% of retinoblastomas and usually arises from the anterior retina in older children. This form usually does not form a mass or contain calcium. The resultant pseudohypopyon and floating vitreal tumor cells can be easily mistaken for uveitis or endophthalmitis and has thus been termed a masquerade disease. The absence of pain, conjunctival hyperemia, synechia (anatomic adhesions), cataract, and vitreous fibrosis suggests retinoblastoma rather than inflammation. Diffuse retinoblastomas start anteriorly and may enter the anterior chamber and fill the vitreous cavity but usually do not extend to the optic nerve. Spontaneous regression of tumor results in a shrunken, nonfunctioning globe [
The diagnosis of retinoblastoma is made noninvasively by exam under anesthesia with ophthalmoscopy, orbital ultrasound, and fluorescein angiography. Lumbar puncture and bone marrow biopsies are only performed in patients at high risk for having extraocular disease. Biopsies are not performed because of the risk of extraocular spread. Typically, neoplastic cells spread through the optic pathways via the optic nerve and can breach the pia to extend into the subarachnoid space. Direct extension through the choroid and sclera can occur with subsequent orbital extension. Finally, hematogenous metastases can spread to the lungs, bones, brain, and other viscera [
Historically, retinoblastoma was grouped into categories based on the Reese-Ellsworth classification system (groups I–V). The International Intraocular Retinoblastoma Classification System (IIRC) separates retinoblastomas into groups (A–E) based on prognosis, which is related to the extent of intraocular disease at diagnosis (Supplemental Table 1 will be available online at
Radiologic imaging can be used to help confirm the diagnosis and determine staging. The vast majority of nondiffuse type retinoblastomas appears nodular with calcifications, and presence of these calcifications distinguishes retinoblastoma from other intraocular lesions. CT evaluation of retinoblastoma (Figure
17 months old diagnosed with bilateral retinoblastoma requiring systemic chemotherapy. Axial contrast-enhanced CT through the orbits (a) demonstrates bilateral intraocular masses with coarse calcifications (arrows) and mild-to-moderate enhancement, diagnostic of retinoblastoma. MR axial T2-weighted image with fat-saturation (b) demonstrates curvilinear hypointensities in both globes, best visualized on the right, consistent with retinal detachment (arrows). Axial T1-weighted fat-saturated (c) and postcontrast T1-weighted fat-saturated (d) images show the bilateral intraocular masses with abnormal signal and enhancement in the intraconal left orbit along the optic nerve (curved arrow), which may represent a combination of postlaminar spread of tumor along the optic nerve and secondary perineuritis. This is not apparent on the CT scan.
MR is the study of choice for known retinoblastoma cases with clinical symptoms concerning for extraocular spread of disease and for followup evaluations. Retinoblastoma (Figure
Axial T2-weighted image with fat saturation (a), diffusion-weighted image (b), T1-weighted image (c), and T1-weighted postcontrast image with fat saturation (d) demonstrate a unilateral mass in the right posterior globe that shows mild enhancement and no extraocular extension. This was diagnosed as retinoblastoma and the increased signal on diffusion imaging is compatible with the malignant and highly cellular nature of this disease.
Radiologic imaging is less sensitive and specific for determining the diffuse infiltrative pattern of disease, but this may show an anterior plaque without a discrete mass or calcifications. Ophthalmic imaging modalities, including ultrawide field photography, angiography, and spectral domain optic coherence tomography, aid in the diagnosis of this subtype of retinoblastoma. Enhancement is uniform with diffuse retinal thickening; however, micronodules may be visualized via US or MR with rare extension posteriorly through the choroid or into the optic nerve [
When bilateral tumors are seen, retinoblastoma should be considered until proven otherwise. Other diseases that cause leukocoria can be differentiated from retinoblastoma based on imaging characteristics and clinical presentation. Coats’ disease, persistent hyperplastic primary vitreous, and toxocara endophthalmitis lack calcifications. Retinopathy of prematurity can be bilateral and rarely calcified; however, a history of prematurity can be elicited, and the characteristic vascular patterns can be seen on exam. Lastly, retinal astrocytic hamartomas can calcify but are well circumscribed, lack hemorrhage or necrosis, and are associated with other findings related to tuberous sclerosis (TS) or neurofibromatosis 1 (NF1).
The treatment of retinoblastoma is complex and involves a multidisciplinary team, including pediatric oncologists, ophthalmologists, diagnostic and interventional radiologists, radiation oncologists, ocular pathologists, and geneticists. The available treatment options include enucleation (eye removal), chemoreduction, selective intraarterial and systemic chemotherapy, laser photocoagulation, focal cryotherapy, transpupillary thermotherapy, plaque brachytherapy, and external-beam radiation therapy (EBRT). Enucleation is the treatment of choice for advanced retinoblastoma with no potential for visual salvage. Historically, chemotherapy was reserved for extraocular or metastatic disease with adjuvant chemotherapy after enucleation. Discovery that patients who underwent EBRT are at an increased risk of developing secondary malignancies led to a paradigm shift in retinoblastoma treatment [
Multiagent chemotherapy usually includes a combination of carboplatin and vincristine with or without etoposide. Studies have shown that for retinoblastomas in Reese-Ellsworth groups I–III, systemic chemotherapy in combination with local ophthalmic therapies (cryotherapy, laser photocoagulation, thermotherapy, and plaque radiation therapy) can avoid the need for enucleation or EBRT [
More aggressive therapy is needed for Reese-Ellsworth groups IV and V, as advanced cases with diffuse vitreous seeding are extremely difficult to treat. Subconjunctival carboplatin and intravitreal carboplatin have been used in cases of diffuse vitreal seeding in Reese-Ellsworth group Vb eyes without evidence of seeding at 37 month followup [
Cryotherapy is effective for small (<3 mm apical thickness and <10 mm basal dimension) peripheral tumors, and a triple freeze-thaw technique is used with a tumor control rate of up to 90%. Multiple sessions of focal laser photocoagulation can be used alone for tumors less than four disc diameters. Thermotherapy with infrared radiation may also be used. When the aforementioned local treatments fail, brachytherapy is ideal for small, discrete, and accessible tumors. In a large study, plaques with radioactive ruthenium 106 or iodine 125 had a 79% tumor control rate at 5 years [
Infusion of selective intraarterial chemotherapy (SIAC) is currently the new trend in retinoblastoma treatment. SIAC has been used for the primary treatment of unilateral and bilateral retinoblastoma in IIRC groups C and D with reported cures after one and two cycles of chemotherapy without major adverse events [
It has recently been reported that SIAC exposes patients to a significant amount of radiation [
The future of ocular drug delivery now is focused on localized sustainable drug delivery directly in the eye. Transscleral depot reservoirs, liposomes, and nanoparticles are being investigated in preclinical models and may play a role in the future of treatment for intraocular malignancies like retinoblastoma. These treatments are being studied extensively for other retinal diseases with possible future applications in intraocular tumor treatment.
Medulloepithelioma is a rare congenital neuroepithelial tumor that arises from the nonpigmented ciliary epithelium of the ciliary body. Rarely, it can arise from the retina and optic nerve. It is slow growing and characterized as teratoid or nonteratoid and malignant or benign, based on histologic appearance. Population-based information on incidence is not available; however, most cases are found within the first decade of life and rarely late in adulthood [
Reported medulloepithelioma cases describe a rapidly expanding ciliary body mass that masqueraded as chronic uveitis, cataract, and uncontrolled secondary glaucoma [
Imaging can assist with determining extent of disease, and presence of extraocular spread of tumor with all imaging modalities typically demonstrates a solid mass with multiple characteristic cystic collections. Ultrasound biomicroscopy can be very useful in distinguishing anterior segment masses by providing high resolution images [
Axial (a) and sagittal (b) T1-weighted postcontrast images with fat saturation show an irregular, enhancing mass arising from the nonpigmented epithelium of the ciliary body. The tumor is confined to the globe.
Once the diagnosis is favored based on location, clinical appearance, imaging, staging, and size of the tumor are evaluated. Most medulloepitheliomas are cytologically malignant, but distant metastases are rare. Nodal metastases in the neck can occur with a predilection for the lymph nodes in the parotid gland. For small tumors, local excision via iridocyclectomy in conjunction with radiotherapy has been done with varying success [
Though typically arising from the ciliary body, medulloepitheliomas have on rare occasion been reported arising from the optic nerve [
Retinal astrocytic hamartomas are glial tumors of the retinal nerve fiber layer that arise from retinal astrocytes. They are cream-white, elevated, well-circumscribed lesions that may be multiple or solitary. There are two types of retinal astrocytic hamartomas: small, smooth, and flat noncalcified tumors that appear to be thickening of the nerve fiber layer or “mulberry” lesions, which are nodular large yellow-white calcified lesions. They can be found incidentally on exam, often in conjunction with tuberous sclerosis (TS) and rarely neurofibromatosis [
Usually, these lesions create no clinical symptoms, and treatment is rarely required. They can spontaneously resolve [
Argon laser photocoagulation has been reported to cause visual stabilization, but choroidal neovascularization is a reported complication. Photodynamic therapy is effective in resorption of subretinal fluid in these cases [
Rhabdomyosarcoma of the orbit represents the most common orbital malignancy in childhood, accounting for 10% of all rhabdomyosarcoma cases with mean age of 6–8 years of age [
On imaging, orbital CT and MRI are both helpful in evaluating extent of disease and are often complimentary. Orbital rhabdomyosarcoma appears isoattenuating to muscle on CT and is usually seen as a moderate to markedly enhancing extraconal, homogeneous, and well-circumscribed mass with calcifications only occurring with bony destruction (Figures
18-year-old male presenting with right sided proptosis and history of choroid plexus papilloma and seizures. Axial CT soft-tissue window (a) shows a soft-tissue mass centered in the right ethmoid sinus with bony destruction and invasion into the right orbit and left ethmoid sinus. Coronal CT image using bone windows (b) clearly demonstrates the osseous destruction and invasion of the right medial orbital wall, bilateral ethmoid sinuses, right frontal sinus, both nasal cavities, turbinates, and nasal septum. Postcontrast axial (c) and coronal (d) T1-weighted images with fat saturation better demonstrate the enhancing soft-tissue mass and its extension. The mass invades the medial orbit, displacing the right medial rectus laterally (black arrow), and causes proptosis (star). On coronal, the mass is again seen invading the adjacent sinuses and obstructing the nasal passage; however, unlike CT, abnormal enhancement is seen of the frontal dura (white arrows). The dural thickening and enhancement are compatible with direct tumor invasion. These findings were highly concerning for rhabdomyosarcoma. On postchemotherapy followup imaging (e), the tumor has significantly decreased in size with decreased mass effect on the orbit and adjacent structures. The previously seen dural enhancement has been resolved; however, some residual tumor remains in the paranasal sinus inferomedial to the orbit (white arrow).
Nuclear medicine bone scintigraphy is currently used as part of the work-up for children with rhabdomyosarcoma and is most accurate in detecting osteoblastic metastases. Some studies have shown that PET-CT may be better at detecting bone and lymph node metastases than conventional anatomic imaging (CT, US) [
The treatment of orbital rhabdomyosarcoma has changed drastically over the last 20 years from primary orbital exenteration to a more conservative approach combining systemic chemotherapy and radiation. Depending on the extent of tumor involvement, treatment may also involve surgical debulking. Patients routinely receive chemotherapy with vincristine and d-actinomycin [
Neuroblastoma is the most frequent extracranial solid tumor of childhood and arises from neural crest cells. The prevalence based on the SEER registry from 1973 to 2002 is 0.9 per 100,000 persons. The median age of diagnosis was one year, with 42% of patients presenting at less than one year of age [
The most common clinical presentation of orbital neuroblastoma metastases in patients less than two years old is unilateral or bilateral proptosis and periorbital or eyelid ecchymosis (raccoon eyes). Less common clinical findings include periorbital swelling, hemorrhage, strabismus, restricted ocular motility, ptosis, atrophy of the optic head, and ocular mobility disturbance [
Like Langerhans cell histiocytosis, orbital neuroblastoma metastases tend to occur in the posterolateral orbital wall with CT and MRI providing better diagnostic information over ultrasound. On CT (Figures
7 years old with history of treated neuroblastoma now with metastatic disease. Axial (a) and coronal (b) postcontrast CT images show ill-defined, slightly hyperattenuating soft-tissue masses along the inferior/lateral periorbital bones (black arrows and thin white arrows) and dural surfaces (thick grey arrow). MR coronal T1-weighted postcontrast image (c) also shows the diffuse, enhancing soft-tissue mass (grey arrow) extending along the dural surfaces (black arrow).
Urine catecholamines have high sensitivity and specificity for neuroblastoma. Treatment of metastatic neuroblastoma is stratified based on clinical features (age at presentation, staging) and specific tumor biological markers that include histopathological analyses, chromosomal abnormalities, and quantification of expression of the
Optic pathway gliomas can involve any portion of the visual pathway, including the hypothalamus, optic disc, nerve, chiasm, geniculate nucleus, and optic radiations. Categorized as juvenile pilocytic astrocytomas, they account for 4–6% of all brain tumors in children, and the median age of diagnosis is 5–9 years [
The vast majority of optic pathway gliomas is slow growing and can go unrecognized clinically for a long time. Patients typically present with decreased visual acuity, which may worsen with growth of the glioma within the optic pathway nerves. Other signs include optic disc edema, pallor, atrophy, relative afferent pupillary defect, decreased color vision, pupil dysfunction, visual field defects, ocular motility problems, and proptosis. If the tumor arises within the hypothalamus, endocrinopathies such as accelerated growth and precocious puberty may manifest [
The appearance of optic pathway gliomas on CT and MR is characteristic and specific for the disease process; however, MR is more sensitive for detection of smaller lesions. The gliomas typically show fusiform enlargement of the optic nerve (Figure
5 months old with eye deviation. Axial T2-weighted (a) and coronal T2-weighted fat-saturated (b) images demonstrate fusiform enlargement of the bilateral optic nerves, right greater than left (white arrows), with associated deviation of the right globe. Postcontrast axial (c) and coronal ((d), (e)) T1WI with fat saturation demonstrate diffuse enhancement of the optic nerves (double white arrow) with extension into the optic chiasm (black arrow). This is compatible with bilateral optic nerve gliomas and is virtually diagnostic of neurofibromatosis type 1.
Advanced MR techniques including magnetic resonance diffusion tensor imaging (MRDTI), diffusion-weighted imaging (DWI), and dynamic contrast enhancement (DCE) have been employed to further evaluate optic pathway gliomas. An early study in 2008 used DW and DCE imaging to calculate the diffusivity and permeability of optic pathway gliomas and found that clinically aggressive gliomas had significantly higher permeability than clinically stable gliomas and may warrant closer followup [
Some gliomas enter a stage of stable or slow growth, and some have even spontaneously improved. Tumors confined to the optic nerve at presentation rarely extend into the chiasm or develop extradural extension or metastases. Given the slow growing nature of most of these tumors, active surveillance can be a reasonable option. In patients with progressive disease, chemotherapy is the mainstay of treatment, usually with carboplatin and vincristine. Radiation therapy with fractionated gamma knife radiosurgery can be used after chemotherapy failure and retards or reverses progress in many cases. However, long term-data does not suggest that this specifically reduces mortality or vision loss [
Plexiform neurofibroma (PNF) is a hamartoma of neuroectodermal origin representing 1-2% of all orbital tumors and typically arises in the first decade of life [
Eyelid PNFs have a characteristic S shape due to thickening, fat deposition, and horizontal redundancy. Orbital involvement can cause globe proptosis, bony expansion, and sphenoid dysplasia that can lead to temporal lobe herniation and pulsatile exophthalmos [
Imaging with CT or MR can help determine extent of tumor involvement, amount of bony dysplasia, and can aid in surgical planning. PNFs appear as diffuse, irregular masses that cross multiple tissue planes with other features including thickening of the soft tissues, irregular intraconal fat, irregular nodularity of the optic nerve sheath, and thickening of the sclera/choroid [
11 years old with right pulsatile proptosis. MR axial T2-weighted image (a) and T1-weighted postcontrast image (b) showing sphenoid wing dysplasia with mild temporal lobe herniation (arrow); plexiform neurofibroma with areas of T2 hyperintensity, heterogeneous enhancement, and extension lateral to the orbit into the infratemporal fossa (curved arrow); and buphthalmos and exophthalmos (star) of the right orbit.
PNFs show considerable enlargement during childhood and adolescence and can result in severe disfigurement. Treatment is directed at the relief of specific symptoms. Generally, complete surgical excision of the plexiform neurofibroma is not possible. Surgical debulking and frontalis suspension procedures can reduce the ptosis and allow for binocular vision. However, the condition is often progressive. Chronically inflamed conjunctiva occasionally requires resection.
Leukemia is the most common malignancy of childhood in the USA, with acute lymphoblastic leukemia accounting for 80% of all cases and acute myeloid leukemia (AML) accounting for 20% of cases [
The most common manifestation is leukemic retinopathy, which presents with flame-shaped retinal hemorrhages, sometimes with white centers, in the nerve fiber layer. Additionally, perivascular infiltrations, microinfarctions, and discrete tumor infiltrations can be seen. Central scotomas and serous retinal detachments of the macula have also been reported. Anterior chamber hyphemas, pseudohypopyons, and iris masses can also be presenting signs of intraocular leukemia. Optic nerve infiltration needs to be distinguished from papilledema secondary to CNS leukemia. The less common orbital deposition of leukemic cells can present as a rapidly enlarging orbital mass, which can cause pain, eyelid swelling, ecchymosis, diplopia, and proptosis [
Granulocytic sarcomas are somewhat irregular homogenous masses with lateral orbital predilection that tend to encase rather than invade the adjacent lacrimal gland and extraocular muscles [
Treatment, usually systemic chemotherapy and bone marrow transplantation, is guided by the pediatric oncologist and customized based on specific genetic features of the malignancy. A leukemic infiltrate of the optic nerve can cause optic nerve elevation, and this is a medical emergency because of potential permanent loss of central vision when left untreated. The treatment is low-dose radiation therapy often combined with intrathecal chemotherapy as soon as possible.
Lymphoproliferative disease is rare in children, representing less than 5–10% of orbital lesions. Lymphoid hyperplasia accounts for 10–40%, and non-Hodgkin’s lymphoma accounts for 60–90% of the lesions. Lymphoproliferative disease can be categorized into reactive lymphoid hyperplasia, atypical lymphoid hyperplasia, and ocular adnexal lymphoma. Isolated orbital lymphoma is usually a low grade B-cell lymphoma, a subtype of non-Hodgkin’s lymphoma. Diffuse large B-cell lymphomas are usually systemic.
These lesions are most commonly seen in the superotemporal quadrant with a predilection for the lacrimal gland; however, they may present with diffuse extraocular muscle involvement that can mimic thyroid ophthalmopathy [
Differentiating lymphoproliferative disease from OIS is difficult on CT and MR, as both diseases can show enlargement of the lacrimal glands or extraocular muscles. MR is more sensitive in discriminating between lymphoid disease and OIS, as lymphoproliferative disease has been shown to have significantly more restricted diffusion than OIS (Figure
13 years old with Crohn disease. MR axial (a) and coronal (b) T2-weighted fat saturated, MR precontrast axial T1-weighted fat saturated (c), postcontrast axial (d) and coronal (e) T1-weighted fat saturated, and axial diffusion-weighted (f) images showing an infiltrative, diffusely enhancing soft-tissue mass involving the left superior rectus muscle (black arrows) with restricted diffusion (white arrow). This lesion responded to steroid therapy, supporting the suspected diagnosis of OIS. The fact that this lesion showed intermediate diffusion restriction (ADC value of 0.9-1 × 10−3 mm2/s) demonstrates the difficulty in discriminating between lymphoproliferative disease and OIS.
5 years old with history of combined variable immune deficiency. Axial T2-weighted image through the superior orbit (a) shows lobulated, isointense soft-tissue masses in the bilateral lacrimal glands (arrows). On diffusion-weighted images (b), the masses show restricted diffusion, corroborated by ADC maps (not shown). Precontrast coronal (c) and sagittal (d) T1WI show the well-circumscribed, mildly hypoattenuating mass centered in the right lacrimal gland that homogenously enhances on postcontrast T1-weighted image (e). Biopsy confirmed lymphoid hyperplasia bilaterally.
8 years old with orbital prosthesis status postenucleation for retinoblastoma presents with proptosis. MR axial (a) and sagittal (b) T1-weighted postcontrast fat-saturated images demonstrate homogeneously enhancing infiltrative tissue behind the prosthesis (black arrows). Increased signal along the course of the optic nerve is consistent with perineural spread of disease (curved white arrow). Axial diffusion-weighted image at the same level shows increased signal within the mass due to highly cellular tissue (decreased diffusion, corroborated by ADC maps (not shown)). Biopsy confirmed lymphoma.
OIS is often painful in nature due to acute inflammation and is treated with corticosteroids [
Cystic structures are the most common orbital lesions in the pediatric population. Orbital cysts are either congenital or acquired but are mostly benign. Dermoid cysts are the most common orbital cystic tumor of childhood and arise from ectoderm trapped in bony sutures during embryogenic migration or from failure of surface ectoderm to separate from the neural tube. Epidermoid cysts present similarly but lack the dermal elements in the cyst wall [
Most dermoids and epidermoids present in the childhood and teen years as a slow growing, painless, subcutaneous mass near the superotemporal orbit and frontozygomatic suture [
18 years old with diplopia. Axial CT with bone algorithm (a) shows a well-circumscribed lesion in the superolateral left orbit that causes adjacent bone thinning (white arrow) and sclerosis. Axial (b) and coronal (c) CT with soft-tissue algorithm show low attenuation fat within the mass (black arrows), diagnostic of a dermoid inclusion cyst.
Epidermoid cysts are well-circumscribed unilocular cysts that appear similar to cerebrospinal fluid on both MR and CT but can be clearly differentiated on MR DWI (Figure
Patient with right orbital mass. MR axial (a) and coronal (b) T2-weighted, axial T1-weighted (c), and axial diffusion-weighted image (d) images show a T2 hyperintense, T1 isointense mass in the superolateral orbit, and sphenoid wing with restricted diffusion corroborated on ADC map (not shown), consistent with an epidermoid inclusion cyst.
Once diagnosed, management is based on the location of involvement and history of progression. If the lesion progresses and results in extraocular motor disturbances or compression of cranial nerves, this is an indication for treatment. Treatment is surgical en bloc resection of the lesion and any related sinus tracts. Traditional surgical approaches include incisions over the mass; above, below, or through the brow; parallel to superior orbital rim; via lateral canthotomy and lateral orbitotomy. The upper blepharoplasty approach [
Langerhans cell histiocytosis (LCH) is a disease characterized by abnormal proliferation of Langerhans cells and was previously thought to encompasses three clinical syndromes: Letterer-Siwe disease, which involves the vital organs of infants with often fatal outcomes; Hand-Schuller-Christian disease, seen in young children with diabetes insipidus, osteolytic calvarial defects, and exophthalmos; and eosinophilic granuloma, an indolent disease limited to the bones of older children or adults [
Imaging can help define the extent of disease and osseous destruction. CT and MRI provide more information than ultrasound. On CT, LCH manifests as a soft-tissue lesion that replaces/destroys osseous structures, can be well-defined or diffusely homogeneous, and shows moderate to marked enhancement after contrast administration (Figures
4 years old with known Langerhans cell histiocytosis. Coronal (a) and sagittal (b) contrast-enhanced CT images demonstrate a well-defined, osteolytic mass in the left orbital roof with rim enhancement. MR coronal T2-weighted fat-saturated (c), T1-weighted (d), and T1-weighted postcontrast fat-saturated (e) images show heterogeneous signal with possible enhancement in the left orbital roof mass with displacement of the globe inferiorly (not shown).
Isolated asymptomatic lesions may be observed. Painful lesions with favorable access can be excised or directly injected with steroids. Patients can be medically managed with systemic corticosteroids or chemotherapy, depending on the severity of the disease and location of involvement. Lesions are also treated with low-dose radiation. These patients must be followed because they can develop juxtaneural or intracranial extension and can progress to multifocal disease [
Infantile hemangiomas are hamartomas of capillary endothelial cells. They are the most common vascular tumor of childhood in the orbit and are classified into preseptal, intraorbital (involving the postseptal orbit), and compound/mixed, involving both [
Most cases are diagnosed within the first weeks to months of life, after which the hemangioma begins a proliferative phase for up to 10 months. During this phase, the lesion may be complicated by hemorrhage, ulceration, cause amblyopia by obstructing the visual axis or inducing astigmatism, cause glaucoma by compression of the ocular outflow channels, stretch the optic nerve, and cause corneal ulceration [
Imaging is indicated to assess for the depth of the lesion and its relationship with adjacent structures for any lesions with atypical features on physical exam or presentation, or an associated underlying syndrome. US is useful as an inexpensive initial exam and typically demonstrates a well-circumscribed mass with a vessel density of greater than 5 vessels/cm2 with variable echogenicity. Spectral waveforms show a high-flow system with low resistance; however, no arteriovenous shunting should be identified.
If further characterization is needed, MRI offers more sensitive evaluation of deeper lesions and their relationship to adjacent structures while avoiding the ionizing radiation of CT. Additionally, MR angiography (MRA) can be used to assess flow characteristics within the vascular lesions. Typical hemangiomas are well-circumscribed solid masses with arterial flow voids, intermediate signal on T1WI, increased signal on T2WI, marked enhancement on post-contrast images, and high flow on time-resolved MRA (Figure
Patient with blue rubber bleb nevus presenting with right proptosis. Precontrast T1-weighted axial images with fat saturation (a) show a well-defined, lobulated, and intraconal mass (curved arrow) displacing the right optic nerve (black arrow). Postcontrast T1-weighted fat-saturated axial image (b) shows patchy, irregular, and enhancement. On T2-weighted fat-saturated image (c), the mass is hyperintense with linear low-intensity areas, likely flow voids. These findings were consistent with a hemangioma.
If complications of the capillary hemangioma arise, intralesional corticosteroid injections into the eyelid can be safely performed but should be done with caution. Injection pressures routinely exceed the systolic blood pressure during these procedures [
Venous-lymphatic malformations (VLMs) encompass a spectrum of complex congenital lesions of the orbit that are the result of maldevelopment of lymphatic and vascular structures during embryologic life. VLMs are composed of a mixture of venous and lymphatic vessels that vary in composition based on location. Deep lesions tend to be more venous in nature, while superficial lesions contain more lymphatic components. This corresponds to the normal vessel and lymphatic distribution of the orbit. They account for 4% of all expanding pediatric orbital masses and are usually evident by two years of age [
Periorbital malformations may cause major morbidity, including intralesional bleeding, intermittent swelling, blepharoptosis, fluctuating proptosis, pain, amblyopia, chemosis, astigmatism, and strabismus. Forty percent of children have diminished vision in the affected eye [
The imaging characteristics of VLMs reflect their gross appearance with the mass appearing irregular, lobulated, infiltrating with ill-defined margins (due to lack of a capsule), and involving both the pre- and postseptal as well as the intra- and extraconal portions of the orbit [
17 years old with acute worsening of left eye proptosis secondary to intralesional hemorrhage. MR axial T2-weighted fat-saturated (a) and coronal T2WI (b), axial T1-weighted fat-saturated image (c), and postcontrast T1-weighted fat-saturated image (d) showing a lobulated, trans-spatial mass with fluid-fluid levels, and trace rim enhancement (white arrows). The fluid-fluid levels are due to intralesional hemorrhage and are almost pathognomonic for a VLM. The lesion was treated with sclerotherapy using bleomycin and sodium tetradecyl sulfate (e).
Treatment of periorbital VLMs requires an interdisciplinary team that includes interventional and diagnostic radiologists, craniofacial surgeons, and ophthalmologists. Several interventions are usually required. Percutaneous sclerotherapy with 3% sodium tetradecyl sulphate (STD) [
A wide assortment of intraocular neoplasms and orbital masses involves the pediatric orbit and can present with various clinical manifestations. Given the complexity of their location and considerable morbidity that may be associated with biopsy at this site, a systematic and multidisciplinary approach is needed to help facilitate an accurate diagnosis. By understanding the clinical presentation and the characteristic imaging features of the disease, a narrow differential diagnosis can be formulated, and thus timely treatment can be initiated. The treatment of pediatric orbital and intraocular neoplasms, especially of retinoblastoma, has changed drastically over the last 10 years. During this same period, wider use of 3 T magnets with newer coils has improved signal quality of MR imaging, while new 3D pulse sequences now allow slice thicknesses of less than 1 mm. Furthermore, DWI imaging has recently emerged as an important diagnostic tool used to differentiate malignant and benign neoplasms. As imaging hardware and advanced imaging techniques become more refined, diagnostic accuracy should continue to improve. Advancements in drug delivery systems and therapies will hopefully translate into decreased morbidity and mortality in this young patient population.
The authors would like to thank Dr. Michael Goldbaum for his contribution to this paper.