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Rapid-onset bilateral periorbital edema seen in young adult
The patient's medical history was significant for sickle cell disease and complications of this condition.
The ophthalmology service was consulted to evaluate a 19-year-old male inpatient with rapid-onset bilateral periorbital edema, proptosis and headache. He was admitted to the hospital the night prior with right thigh pain and headache of 1 day duration.
The patient’s medical history was significant for sickle cell disease (hemoglobin SS) and complications of this condition, including stage 3 chronic kidney disease and multiple episodes of acute chest syndrome, pain crises and deep vein thrombosis.
The headache localized to the right temporal region, did not change with position, and progressively worsened despite treatment with acetaminophen and ibuprofen. Overnight, the patient developed significant periorbital edema bilaterally, which was accompanied by facial pain and numbness, pain with eye movements and double vision in left gaze. He did not note any change in visual acuity or color vision. He denied a recent history of trauma, and review of systems was negative for fever, nausea, chest pain, shortness of breath, abdominal pain or focal neurological deficits. He did not have edema elsewhere, and his kidney function was at his baseline. His ocular history was remarkable for myopia. His medications included sirolimus, thalidomide, hydroxyurea and epoetin for his sickle cell anemia, as well as losartan, warfarin and vitamin supplementation. His mother, father and twin brother had sickle cell trait. He was a college student and denied tobacco or illicit drug use.
Examination
The patient was afebrile and hemodynamically stable. On examination, his best corrected visual acuity was 20/20 in each eye. His pupils were equally round and reactive to light, with no afferent pupillary defect, and IOPs were within normal limits in both eyes. Mild proptosis was noted by Hertel exophthalmometry, with measurements of 23 mm in the right eye and 24 mm in the left eye. Color vision and confrontational visual fields were full.
External exam showed significant periorbital and upper eyelid edema with inferior scleral show in both eyes (Figure 1). He had an exodeviation in primary gaze. Ocular motility exam demonstrated full ductions in the right eye and limited ductions in all gaze directions in the left eye, which were most pronounced in abduction and elevation (Figure 2). Anterior segment exam was normal with white and quiet conjunctiva and no evidence of keratic precipitates or anterior chamber inflammation. Dilated fundus exam revealed healthy optic discs without edema or pallor and no evidence of sickle cell retinopathy in both eyes.
Images: Lewen M, Strominger MB
What is your diagnosis?
Periorbital edema and proptosis
The differential diagnosis for periorbital edema, proptosis and ocular motility dysfunction in a young man includes infectious, inflammatory and neoplastic etiologies as well as other structural lesions. In children, orbital cellulitis is the most likely cause of the aforementioned symptoms and is usually secondary to sinus disease, but this tends to include pronounced eyelid erythema, conjunctival injection and possible sequela of optic nerve dysfunction, which our patient did not demonstrate. Orbital or subperiosteal abscess should be considered in patients with clinical presentations consistent with orbital cellulitis but who do not adequately respond to antibiotic therapy.
Patients with sickle cell disease, particularly the hemoglobin SS variant, are susceptible to vaso-occlusive events due to the abnormal shape and impaired flexibility of the red blood cells. Occlusions can occur in the small blood vessels throughout the body, leading to tissue infarction and secondary inflammation, and rare cases of orbital bone infarction in the setting of sickle cell disease have been described in the literature. Cavernous sinus thrombosis can lead to proptosis and cranial neuropathies, although the normal IOP and absence of conjunctival injection and chemosis make this diagnosis less likely. Other inflammatory conditions including thyroid eye disease, sarcoidosis, granulomatosis with polyangiitis and idiopathic orbital inflammatory syndrome (orbital pseudotumor) should be considered as causes of orbital or periorbital edema with proptosis.
While rare, neoplastic processes can involve the orbit causing proptosis. Rhabdomyosarcoma is the most common orbital tumor in children and can cause bilateral symptoms depending on its location. However, the majority of cases of orbital rhabdomyosarcoma occur in children much younger than our current patient. Leukemia and lymphoma are common cancers in children and can involve the orbit secondarily. Metastatic lesions from primary tumors such as Ewing’s sarcoma and neuroblastoma, as well as other neoplastic lesions such as fibrous dysplasia and histiocytosis, should also be considered.
Finally, structural lesions such as a dermoid cyst or mucocele can cause proptosis that develops progressively or even rapidly if there is associated inflammation or hemorrhage.
Diagnosis and management
Blood work obtained upon admission revealed anemia, sickle cells and an elevated reticulocyte count. White blood cell count was elevated, but this was initially believed to be due to the patient’s sickle cell crisis rather than an underlying infection. The next step in the management of this patient involved diagnostic imaging, and either CT or MRI would be reasonable. CT scanning is rapid and affords optimal visualization of the bony structures but involves radiation exposure. MRI is preferred for imaging of soft tissue and because of the absence of radiation, but these scans require more time and patient cooperation than CT.
Due to an initial concern for a neurovascular event causing the patient’s headache and facial numbness, an MRI of his head was obtained. This study showed no evidence of stroke and demonstrated a subperiosteal fluid collection in the superolateral left orbit causing proptosis of the left globe and a smaller collection in the right orbit (Figure 3). CT of the orbits was subsequently ordered to better evaluate the bony structures, which showed expansion of the medullary space without bone destruction or focal abnormality (Figure 4). There was no evidence of an intraconal infectious process. Radiographically, the fluid collections were most consistent with subperiosteal hematomas secondary to orbital wall infarctions in the setting of sickle cell disease. Given that there was no clinical evidence of orbital infection or compressive optic neuropathy, surgical drainage of the orbital subperiosteal fluid collections was not recommended.
In the setting of facial pain and swelling, multiple small fluid collections were visualized in his right mandible and maxilla. The otorhinolaryngology service was consulted and drained fluid from one of these collections. The gram stain demonstrated gram-positive cocci representing Staphylococcus aureus infection or normal flora. There was no growth on culture. He subsequently developed fevers and was treated with empiric antibiotic therapy, although blood cultures were negative. His sickle cell crisis was treated with fluid resuscitation and transfusion of red blood cells. His periorbital edema and ocular motility dysfunction improved dramatically over the ensuing days and resolved almost completely at the time of his outpatient follow-up appointment 2 weeks after the initial consultation (Figure 5).
Discussion
Vaso-occlusive events are common causes of hospitalization in patients with sickle cell disease and can be acutely life-threatening if the heart, lungs or brain are involved. More frequently, recurrent painful episodes occur from occlusion of small blood vessels within the bone marrow, causing infarction and secondary inflammatory responses. These events generally occur within the long bones and vertebrae because of the high concentration of bone marrow. The bones of the orbit have small amounts of marrow space and so can be a site of infarction from vaso-occlusion in the setting of a sickle cell crisis.
This rare event has been described in case reports and series in the literature, and is often misdiagnosed as orbital cellulitis or subperiosteal abscess. Depending on the extent of the subperiosteal fluid collections, patients may demonstrate evidence of optic nerve compression that may result in permanent loss of vision. CT and MRI are helpful and often sufficient in the diagnosis of orbital bone infarction; however, confirmation of marrow infarction requires bone marrow scintigraphy.
Fluid drained from these collections is sterile and commonly hemorrhagic. Patients with sickle cell disease are at increased risk of systemic infection, and infarcted bone is vulnerable to superimposed osteomyelitis, and so excluding infection can be challenging. The normal anterior segment exam, absence of sinus disease, location of the fluid collection in the superolateral aspect of the orbit, and negative blood cultures made an infectious etiology in our patient much less likely.
Our patient’s symptoms improved with supportive care for his sickle cell anemia and pain crisis. It is important to remember that patients in sickle cell crisis will frequently manifest fevers and leukocytosis that are not due to an underlying infection. While our patient was treated empirically with antibiotics, it would be unlikely for a subperiosteal abscess to resolve over a few days without surgical drainage. Fortunately, he did not have optic nerve compression, so drainage was not necessary. Treatment with steroids has also been reported in the literature for patients with orbital bone infarction and optic nerve compression.
Review of the patient’s medical record revealed that he was hospitalized when he was 2 years old, at which time he developed left-sided periorbital edema and was treated for presumed orbital cellulitis. A surgical drain was inserted, and clear fluid was collected and cultured, which did not grow an infectious agent. His blood cultures were negative, and his symptoms resolved with supportive care.
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- For more information:
- Michael Lewen, MD, and Mitchell B. Strominger, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Kristen E. Dunbar, MD, and Kendra Klein, MD. They can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston MA 02111; website: www.neec.com.